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Gene: Ercc1 MGI:95412

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

excision repair cross-complementing rodent repair deficiency, complementation group 1

Synonyms:

Ercc-1

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 Ercc1 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 Ercc1 (3 diseases)
Human diseases predicted to be associated with Ercc1 (2091 diseases)

The table below shows human diseases associated to Ercc1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cockayne Syndrome Type 2	Male hypogonadism, Difficulty walking, Intrauterine growth retardation, Lower limb spasticity, Ga...	ORPHA:90322
Cofs Syndrome	Camptodactyly of finger, Hypogonadism, Hypotonia, Intrauterine growth retardation, Joint stiffnes...	ORPHA:1466
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Camptodactyly of finger, Elbow flexion contracture, Intraute...	OMIM:610758

The table below shows human diseases predicted to be associated to Ercc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maleylacetoacetate Isomerase Deficiency	Decreased liver function	OMIM:617596
Ceroid storage disease	Hepatic failure	OMIM:214200
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration	OMIM:143500
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration	OMIM:620364
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Cholestasis, Progressive Familial Intrahepatic, 4	Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma	OMIM:615878
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Hepato...	ORPHA:402823
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly,...	OMIM:618549
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Decreased liver...	ORPHA:570422
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function	OMIM:614156
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Increased level of methylsuccinic acid in urine, Hepatic steatos...	ORPHA:26792
Transient Neonatal Diabetes Mellitus	Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Umbilical ...	ORPHA:99886
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Acute hepatic failure, Abdominal distention, He...	OMIM:620151
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration	OMIM:602114
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Hypoglycemia, Generalized hypotonia, Elevated circul...	OMIM:619048
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Combined Oxidative Phosphorylation Deficiency 30	Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Decreased liver function, Elev...	OMIM:616974
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co...	OMIM:235555
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Spastic Paraplegia 18B, Autosomal Recessive	Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle...	OMIM:611225
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, 3-Methylglutaconic aciduria, Dystonia, Hepatomegaly, Spastic tetraparesis, Progress...	ORPHA:67046
Congenital Disorder Of Glycosylation, Type Ir	Gastroesophageal reflux, Decreased liver function, Chronic constipation	OMIM:614507
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Feeding difficulties in infancy, Decreased liver function	OMIM:614870
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ...	ORPHA:309169
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Decreased liver function	OMIM:600666
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep...	OMIM:613812
Preeclampsia/Eclampsia 1	Proteinuria, Intrauterine growth retardation, Elevated circulating hepatic transaminase concentra...	OMIM:189800
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Increased circulating lactate concentration, Hypoglycemia, Elevated circulating as...	OMIM:619386
Spastic Paraplegia-Nephritis-Deafness Syndrome	Severe short stature, Nephropathy, Spasticity, Paraplegia, Proteinuria, Gait disturbance	ORPHA:2820
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hepatic steatosis, Fo...	OMIM:618400
Autosomal Dominant Focal Dystonia, Dyt25 Type	Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti...	ORPHA:329466
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Hepatic failure, Dysphagia	ORPHA:2724
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Increased circulating lactate concentration, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:615158
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Central hypothyroidism, Hypoglycemia, Decreased serum te...	ORPHA:453533
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage, Growth delay	OMIM:278780
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased circulating lactate concentration, Skeletal muscle atrophy, Generalized hypotonia, Hypo...	OMIM:618244
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Kyphosis, Generalized hypotonia, Intrauterine growth...	OMIM:618237
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla...	OMIM:611555
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Giant cell hepatitis, Elevated circulating h...	OMIM:607765
Cholestasis, Intrahepatic, Of Pregnancy, 1	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ...	OMIM:147480
Pparg-Related Familial Partial Lipodystrophy	Loss of facial adipose tissue, Hepatic steatosis, Splenomegaly, Xanthomatosis, Generalized hirsut...	ORPHA:79083
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular...	ORPHA:369840
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Spastic Paraplegia 26, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Tip-toe gait, Lower limb muscle weakness, Upper...	OMIM:609195
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Growth delay, Cogwheel rigidity, Babinski sign, Hypertonia, Spastic gait, Dystonia, Short stature	OMIM:618284
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati...	OMIM:232700
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Hepatic steatosis, Splenomegaly, Xanthomatosis, Generalized hirsutism, Aplasia/Hypopl...	ORPHA:2348
Mitochondrial Complex I Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Hypotonia, Lactic acidosis, Metabolic acidosis, Myop...	OMIM:618234
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule	ORPHA:1962
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Myoclonu...	ORPHA:363400
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Type I diabetes mellitus, Limitation of joint mobility, Tremor, Proteinuria, Gait di...	ORPHA:1192
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ...	ORPHA:293964
Dystonia 30	Arm dystonia, Leg dystonia, Loss of ambulation, Oromandibular dystonia, Torticollis, Dystonia, Wr...	OMIM:619291
Combined Malonic And Methylmalonic Acidemia	Acidosis, Elevated circulating hepatic transaminase concentration, Ketoacidosis, Methylmalonic ac...	ORPHA:289504
Hemidystonia-Hemiatrophy Syndrome	Limb dystonia, Rhizomelic leg shortening, Hemiparesis, Babinski sign, Abnormal pyramidal sign, Dy...	ORPHA:306741
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension	OMIM:617068
Dystonia 22, Adult-Onset	Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst...	OMIM:620456
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Feeding difficulties, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:246900
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins...	OMIM:137950
Dystonia 33	Spasticity, Limb dystonia, Axial dystonia, Babinski sign, Dystonia, Axial hypotonia	OMIM:619687
Mody	Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosu...	ORPHA:552
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Kyphosis, Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Intrauterine growth retard...	ORPHA:48431
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Spastic paraplegia, Lower limb muscle weakness, Laryngeal dystonia, Difficulty walking, Dystonia	OMIM:619681
Non-Syndromic Genetic Deafness	Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine...	ORPHA:87884
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Increased circulating lactate concentration, Elevated circulating hepatic...	ORPHA:66634
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Ddost-Cdg	Osteopenia, Elevated circulating hepatic transaminase concentration, Generalized hypotonia, Hepat...	ORPHA:300536
Systemic Primary Carnitine Deficiency	Hepatomegaly, Vomiting, Elevated circulating hepatic transaminase concentration	ORPHA:158
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Vomiting, Decreased liver function	OMIM:602199
3-Methylglutaconic Aciduria Type 7	Spasticity, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Increased ...	ORPHA:445038
Dystonia 4, Torsion, Autosomal Dominant	Hemidystonia, Generalized dystonia, Limb dystonia, Gait ataxia, Torticollis, Torsion dystonia	OMIM:128101
Fanconi-Bickel Syndrome	Nephropathy, Elevated circulating alkaline phosphatase concentration, Metabolic acidosis, Elevate...	ORPHA:2088
Glycogen Storage Disease Ixc	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:613027
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Generalized hypotonia, Inability to walk, Hypotonia, Lumbar hyperlordosis, Lowe...	OMIM:616756
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Neonatal hypotonia, Hyperins...	ORPHA:263455
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Abnormal...	ORPHA:52430
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Spasticity, Intrauterine g...	OMIM:301006
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Increased circulating lactate concentration, Decreased liver function, Generalized dy...	ORPHA:70472
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Myoglobinuria, Cirrhosis, Hepatomegaly, Portal fibrosis, Abnormal...	ORPHA:264580
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Spasticity, Increased circulating lactate conc...	OMIM:614458
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia...	OMIM:607317
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Postnatal growth retardation, Intrauterine growth retardation, Elevate...	OMIM:610198
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Diarrhea 13	Vomiting, Secretory diarrhea, Hepatic steatosis, Elevated circulating hepatic transaminase concen...	OMIM:620357
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic vomiting, Elevated circulating hepatic transaminase concentration, Decreased liver funct...	OMIM:615160
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ...	ORPHA:52368
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased circulating lactate concentration, Oculogyric crisis, Skeletal muscle atrophy, Difficul...	ORPHA:330050
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Lactic acidosis, Myoclonus, Babinski sign, Increa...	OMIM:619065
Ornithine Transcarbamylase Deficiency	Hepatic failure	ORPHA:664
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Fetal Encasement Syndrome	Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic he...	OMIM:613630
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Skeletal muscle atrophy, Kyphosis, Myoclonus, Splenomegaly, Decreased beta-galacto...	OMIM:230650
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Decreased liver function	ORPHA:79278
Acrogeria	Skin ulcer, Fine hair, Aplasia/Hypoplasia of the skin, Lipoatrophy, Thin skin	ORPHA:2500
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Dystonia, Intrauterine growth retardation, Spastic tetraplegia, Axial hypotonia	OMIM:251280
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Increased circulating lactate concentration, Ragged-red ...	OMIM:616209
Isolated Glycerol Kinase Deficiency	Hypotonia, Adrenocortical hypoplasia, Myopathy, Metabolic acidosis, Hyperlordosis, Short stature,...	ORPHA:408
Acetyl-Coa Carboxylase-Alpha Deficiency	Increased circulating lactate concentration, Hypotonia, Reduced tissue acetyl-CoA carboxylase act...	OMIM:613933
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Osteomalacia, Postnatal growth retardation, Elevated ci...	OMIM:227810
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Difficulty walking, Abnormal exteroceptive sensation, Hand muscle atrophy, Spasticity...	OMIM:205100
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3	Spasticity, Limb ataxia, Rigidity, Loss of ambulation, Clumsiness, Lower limb spasticity, Dystoni...	OMIM:620447
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Increased circulating lactate concentration, Elevated circulating thyroid-stimul...	OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Generalized hypotonia, Hypoketotic hypoglycemia, Hepatic necrosis, Hypoton...	OMIM:231530
Roussy-Lévy Syndrome	Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Somatic sensory dysfunc...	ORPHA:3115
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spasticity, Generalized hypotonia, Adrenal insufficiency, Intrauterine growth retardation, Lactic...	OMIM:618238
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Broad-based gait, Painless fractures due to injury, Rec...	OMIM:256810
Mpi-Cdg	Hepatic fibrosis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function, Abno...	ORPHA:79319
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Postnatal growth retardation, Rhabdomyolysis, Myoglobinuria, Cirrhosis, H...	ORPHA:79240
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated circulating hepatic transaminase concentration, Portal hypertension	OMIM:615506
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy	ORPHA:254857
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Dermoodontodysplasia	Trichodysplasia, Thin skin	OMIM:125640
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Increased circulating lactate concentration, Proximal mu...	ORPHA:457050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Dystonia 25	Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia	OMIM:615073
Galactosemia I	Diarrhea, Vomiting, Decreased liver function, Elevated circulating aspartate aminotransferase con...	OMIM:230400
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Falls, Hypotonia, Gait a...	OMIM:203740
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Increased circulating lactate concentration, Neonatal hypotonia, Left ventricular non...	OMIM:252011
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Spasticity, Hepatosplenomegaly, Hepatic steatosis, Glomer...	OMIM:619487
Spasticity, Childhood-Onset, With Hyperglycinemia	Spasticity, Increased circulating lactate concentration, Babinski sign, Spastic ataxia, Gait dist...	OMIM:616859
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated gamma-glutamyltransferase level, Spasticity, Intrahepatic cholestasis, Hepatic fibrosis,...	OMIM:617093
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula...	OMIM:262400
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Neonatal hypotonia, Hypotonia, Dystonia,...	OMIM:264470
Combined Oxidative Phosphorylation Deficiency 1	Spasticity, Increased circulating lactate concentration, Cholestasis, Intrauterine growth retarda...	OMIM:609060
Mitochondrial Complex I Deficiency, Nuclear Type 17	Increased circulating lactate concentration, Skeletal muscle atrophy, Generalized dystonia, Hypot...	OMIM:618239
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Spasticity, Spastic tetraparesis, Gait disturbance, Short stature, Dystonia	OMIM:620515
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Free Sialic Acid Storage Disease	Spasticity, Hypotonia, Splenomegaly, Proteinuria, Gait disturbance, Abnormal pyramidal sign, Ocul...	ORPHA:834
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Broad-based gait, Kyphosis, Tip-toe gait, Lower limb mus...	OMIM:615290
X-Linked Ehlers-Danlos Syndrome	Hernia, Umbilical hernia, Inguinal hernia, Thin skin	ORPHA:75497
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Vomiting, Elevated circulating hepatic transaminase concentration	OMIM:616483
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Rickets...	OMIM:616026
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Rhizomelia, Increased circulating lactate concentration, Neonatal hypotonia, Intraute...	OMIM:616271
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Severe lactic acidosis, Increased circulating lactate concentration, Hypoglycemia, Postnatal grow...	OMIM:616111
Striatonigral Degeneration, Childhood-Onset	Hypotonia, Lumbar hyperlordosis, Ankle clonus, Loss of ambulation, Dystonia, Craniofacial dystoni...	OMIM:617054
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Impaired vibration sensation in the...	ORPHA:251282
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced t...	OMIM:201450
Autosomal Recessive Spastic Paraplegia Type 56	Spastic paraplegia, Tip-toe gait, Dystonia, Babinski sign, Spastic gait, Unsteady gait	ORPHA:320411
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232200
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Dystonia, Increased circulating lactate concentration, Abnormal pyramidal sign, Ataxia	OMIM:619196
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased circulating lactate concentration, Weakness of facial musculature, Increased intramyoce...	OMIM:619062
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Incoordin...	ORPHA:79239
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Sialidosis Type 2	Nephropathy, Skeletal muscle atrophy, Umbilical hernia, Generalized hypotonia, Splenomegaly, Trem...	ORPHA:87876
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Generalized hypot...	OMIM:619013
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Increased circulating lactate concentration, Incoordination, Difficulty ...	OMIM:500003
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Increased circulating lactate concentration, Elevated s...	OMIM:614582
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Dystonia, Spastic dysarthria, Scoliosis, Urin...	ORPHA:314603
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Hepatic failure, Hepatic fibrosis	OMIM:616719
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter d...	OMIM:607565
Dystonia 6, Torsion	Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors...	OMIM:602629
3-Methylglutaconic Aciduria Type 4	Decreased liver function	ORPHA:67048
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Tetraparesis, Inability to walk, Hypo...	OMIM:618276
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Lactic acidosis, Hepati...	OMIM:261680
Dystonia With Cerebellar Atrophy	Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia	OMIM:611694
Spastic Ataxia 1, Autosomal Dominant	Spastic paraplegia, Leg muscle stiffness, Spastic ataxia, Gait disturbance, Dystonia	OMIM:108600
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Renal hypoplasia, Increased circulating lactate concentration, Decreased l...	OMIM:614922
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins...	ORPHA:436182
Lipoyltransferase 1 Deficiency	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:616299
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Portal hypertension, Renal insuffi...	ORPHA:213
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Generalized hypotonia, Lactic acidosis, Hype...	ORPHA:436271
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration	OMIM:300752
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Infantile axial hypotonia, Multiple joint contractures, Tremor, Ankle clonus, Loss of...	ORPHA:521406
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Tremor, Ataxia, Short stature, Defecti...	OMIM:278760
Mitochondrial Complex I Deficiency, Nuclear Type 3	Generalized hypotonia, Metabolic acidosis, Abnormality of extrapyramidal motor function, Abnormal...	OMIM:618224
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Spastic paraplegia, Tip-toe gait, Babinski sign, Unsteady gait, Dystonia	OMIM:615030
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Primary Dystonia, Dyt17 Type	Craniofacial dystonia, Generalized dystonia, Torticollis	ORPHA:370103
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Generalized hypotonia,...	OMIM:256550
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Hypotonia, Lower limb spasticity, Gait disturbance, Proximal amyotrophy, Hyperlordo...	OMIM:617404
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Increased circulating lactate concentration, Glycosuria, Decreased liver function,...	OMIM:220110
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal lower limb amyotrophy,...	OMIM:614455
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased circulating lactate concentration, Generalized hypotonia, Lactic acidosis, Ragged-red m...	OMIM:618416
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin	ORPHA:2985
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l...	OMIM:600175
Allan-Herndon-Dudley Syndrome	Spasticity, Skeletal muscle atrophy, Neonatal hypotonia, Abnormality of thyroid physiology, Axial...	ORPHA:59
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Increased circulating lactate concentration, Elevated circulating hepatic transami...	OMIM:618958
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Increased facial adipose tis...	ORPHA:280365
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Generalized neonatal hypotonia, Methylmalonic aciduria, Hypoglycemia, Skeletal muscle atrophy, El...	OMIM:245400
Dermoodontodysplasia	Sparse body hair, Melanocytic nevus, Trichodysplasia, Sparse scalp hair, Thin skin	ORPHA:1660
Spastic Paraplegia 90A, Autosomal Dominant	Appendicular spasticity, Spastic gait, Dystonia, Scoliosis, Short stature, Axial hypotonia	OMIM:620416
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi...	OMIM:615924
Combined Oxidative Phosphorylation Deficiency 44	Increased circulating lactate concentration, Generalized hypotonia, Slurred speech	OMIM:618855
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Calf muscle hypertrophy, Hypertriglyceride...	ORPHA:280356
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Lipoatrophy, Thin skin	ORPHA:261304
Combined Oxidative Phosphorylation Deficiency 21	Increased circulating lactate concentration, Hepatic steatosis, Neonatal death, Limb hypertonia, ...	OMIM:615918
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Difficulty walking, Speech apraxia, Hepatic steatosis, Ataxia, He...	OMIM:615356
Familial Cervical Artery Dissection	Abnormality of connective tissue, Striae distensae, Thin skin	ORPHA:36382
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Gait ataxia, Rigidity, Clumsiness, Dystonia	OMIM:620448
Autosomal Recessive Spastic Paraplegia Type 26	Abnormality of the urinary system, Skeletal muscle atrophy, Pseudobulbar paralysis, Decreased ser...	ORPHA:101006
Coenzyme Q10 Deficiency, Primary, 3	Increased circulating lactate concentration, Neonatal hypotonia, Proteinuria, Decreased level of ...	OMIM:614652
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria	ORPHA:2613
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Preeclampsia	Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran...	ORPHA:275555
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, 3-Methylglutaconic aciduria, R...	ORPHA:17
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Inability to walk, Ragged-red muscle fibers, Abnorma...	OMIM:615159
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Spasticity, Recurrent hypoglycemia, Cholestasis, Hyperg...	OMIM:124000
Arthrochalasia Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Inguinal hernia, Scarring, Femoral hernia, Thin skin	ORPHA:1899
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis, Babinski sign, Lower limb spasticity, Spastic gait, Dystonia, Upper limb sp...	OMIM:619966
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Acidosis, Glycosuria, Hypogly...	OMIM:231680
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Difficulty walking, Dystonia, Sensory ataxia, Rigidity	OMIM:619661
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Atypical scarring of skin, Thin skin	OMIM:225310
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumb...	OMIM:615980
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Spasticity, Absent pubertal growth spurt, Progressive spastic paraplegia, D...	ORPHA:464282
Spastic Paraplegia 46, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Urinary incontinence, Hand tremor, Lower limb m...	OMIM:614409
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Elevated ci...	OMIM:613388
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Malabsorption, Neonatal cholestatic live...	OMIM:214900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Metabolic acidosis, Rhabdomyolysis, Myoglobinuria, Clonus, Ataxia, Acute rhabdomyolysis, Spastic ...	OMIM:616878
Parastremmatic Dwarfism	Severe short stature, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased circulating lactate concentration, Hypoglycemia, Myoclonus, Metabolic acidosis, Hyperto...	OMIM:610090
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Splenomegaly, Hepatomegaly, Hyperchole...	OMIM:612526
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Spasticity, Increased circulating lactate conc...	OMIM:619224
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Increased circulating lactate concentration, Skeletal muscle atrophy, Hypoglycemia, Intrauterine ...	OMIM:617710
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated circulating hepatic transaminase concentration, Decreased liver function	OMIM:614883
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma	ORPHA:60
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, Hypertrig...	OMIM:615703
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Acidosis, Muscular dystrophy, Aminoaciduria, Osteoporosis	OMIM:204730
Cednik Syndrome	Hypogonadism, Proteinuria, Ataxia, Short stature, Nephrotic syndrome	ORPHA:66631
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Hypoglycemia, Lower limb ...	OMIM:300559
Spinocerebellar Ataxia With Epilepsy	Increased circulating lactate concentration, Acute hepatic failure, Gait ataxia, Myoclonus, Dysme...	ORPHA:254881
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Hypotonia, Lactic acidosis, Myoclonus, Ragge...	OMIM:607426
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypotonia, Intrauterine growth retardation, Limb dystonia, Tremor, Ataxia	OMIM:620270
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Increased circulating lactate concentration, Neonatal hypotonia, Generalize...	OMIM:606407
Tenorio Syndrome	Macroglossia, Osteopenia, Hypoglycemia, Cerebral palsy, Hypotonia, Joint hypermobility, Clumsines...	OMIM:616260
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Spasticity, Elevated circulating hepatic trans...	ORPHA:2394
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Aganglio...	OMIM:600501
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr...	ORPHA:541423
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Dystrophic fingernails, Thin skin	ORPHA:158673
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Hyperlysinuria, Increased circulating lactate concentration, Incoordination, Intraute...	OMIM:616034
Juvenile Amyotrophic Lateral Sclerosis	Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthotonus, Parkinsonism, Clonus, Ata...	ORPHA:300605
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat...	OMIM:300555
Coenzyme Q10 Deficiency, Primary, 4	Increased circulating lactate concentration, Hypotonia, Lactic acidosis, Myoclonus, Tremor, Decre...	OMIM:612016
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased circulating lactate concentration, Generalized hypotonia, Tetraparesis, Stiff neck, Lac...	OMIM:618230
Adrenomyodystrophy	Abnormality of the urinary system, Megacystis, Hypotonia, Primary adrenal insufficiency, Hepatic ...	ORPHA:977
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Increased variability in muscle fiber diameter, Neonata...	OMIM:615595
Mitochondrial Pyruvate Carrier Deficiency	Increased circulating lactate concentration, Organic aciduria, Hypoglycemia, Generalized hypotoni...	OMIM:614741
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Genera...	OMIM:255120
Dystonia 17, Torsion, Autosomal Recessive	Focal dystonia, Torticollis	OMIM:612406
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Hypotonia,...	OMIM:618049
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin	OMIM:259410
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait...	ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Increased circulating lactate concentration, Hypoglycemia, Lower limb muscle weakness, ...	OMIM:617950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Spastic ...	ORPHA:137898
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Joint stiffness, Rigidity, Hyperkinetic movements, Torticollis, Dy...	ORPHA:98810
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypotonia, Lower limb spasticity, Hepatic steatosis, Lactic acidosis	OMIM:615119
Sulfite Oxidase Deficiency, Isolated	Sulfite oxidase deficiency, Generalized dystonia, Generalized hypotonia, Sulfocysteinuria, Hemipl...	OMIM:272300
Spastic Paraplegia 90B, Autosomal Recessive	Appendicular spasticity, Joint contracture, Short stature, Dystonia, Axial hypotonia	OMIM:620417
Hsd10 Disease, Neonatal Type	Abnormality of the liver, Abnormal circulating enzyme concentration or activity, Lactic acidosis,...	ORPHA:391457
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi...	OMIM:134600
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Bilateral renal atrophy, Carpal osteolysis, Inability to walk, Metacarpal osteolysis,...	OMIM:166300
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb-gir...	ORPHA:206549
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Elevat...	OMIM:617049
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Malabsorpti...	ORPHA:79301
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Hypotonia, Myopathy, Joint hypermobility, Severe muscular hypotonia, Flexion con...	OMIM:618323
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Scoliosis, Lo...	OMIM:617087
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia,...	OMIM:210200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atypical scarring of skin, Sparse eyebrow, Atrophic scars, Sparse eyelashes, Lipodystrophy, Flexi...	ORPHA:75496
Combined Oxidative Phosphorylation Deficiency 6	Tongue fasciculations, Increased circulating lactate concentration, Involuntary movements, Skelet...	OMIM:300816
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Hypoglycemia, Hypotonia, Lactic acidosis, Clonus, Pr...	OMIM:266150
Liver Failure, Infantile, Transient	Vomiting, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microve...	OMIM:613070
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Hepatomegaly, Steatorrhea	ORPHA:75233
Leber Optic Atrophy And Dystonia	Spasticity, Increased circulating lactate concentration, Skeletal muscle atrophy, Dystonia, Upper...	OMIM:500001
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Immunodeficiency 56	Hepatic failure, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryp...	OMIM:615207
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased circulating lactate concentration, Spasticity, Myoclonus, Ragged-red muscle fibers, Myo...	OMIM:545000
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Broad-based gait, Elevated circulating hepatic transaminase concentrat...	ORPHA:2959
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp	OMIM:614860
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Generalized hypotonia, Hypotonia, Myopathy, Scapu...	OMIM:616471
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin	ORPHA:743
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Generalized hypotonia, Difficulty walking, Inability to walk, Facial dip...	OMIM:611890
Combined Oxidative Phosphorylation Deficiency 45	Increased circulating lactate concentration, Tremor, Short neck, Ataxia, Axial hypotonia	OMIM:618951
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Propionyl-CoA carboxyla...	OMIM:606054
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Carnitine Deficiency, Systemic Primary	Recurrent hypoglycemia, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase co...	OMIM:212140
Prolidase Deficiency	Skin ulcer, White forelock, Splenomegaly, Low anterior hairline, Generalized hirsutism, Aplasia/H...	ORPHA:742
Malignant Hyperthermia, Susceptibility To, 4	Acidosis, Rhabdomyolysis	OMIM:600467
Gracile Syndrome	Cholestasis, Intrauterine growth retardation, Lactic acidosis, Hepatic steatosis, Cirrhosis, Rena...	ORPHA:53693
Neutral Lipid Storage Myopathy	Difficulty walking, Hepatic steatosis, Myopathy, Hepatomegaly, Very long chain fatty acid accumul...	ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Increased circulating lactate concentration, Lower limb muscle weak...	OMIM:619737
Cerebellar Ataxia, Cayman Type	Broad-based gait, Skeletal muscle atrophy, Hypotonia, Gait ataxia, Dystonia, Ataxia, Truncal atax...	OMIM:601238
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Sparse hair, Thin skin	ORPHA:1810
Developmental And Epileptic Encephalopathy 69	Congenital contracture, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Arthrogry...	OMIM:618285
Brachyolmia Type 1, Toledo Type	Lumbar hyperlordosis, Precocious costochondral ossification, Abnormal odontoid process morphology...	OMIM:271630
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Appendicular hypotonia, Facial myokymia, Ataxia, Short stature, Kyphosis, ...	OMIM:620007
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Protei...	OMIM:619858
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Generaliz...	OMIM:617575
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic failure, Elevated circulating hepatic transaminase concentration, Red-brown urine, Hypoke...	ORPHA:228305
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Medial flaring of the eyebrow, Sparse scalp hair, Thin skin	OMIM:617364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Neonatal hypotonia, Difficulty walking, Proximal amyotrophy, Shoulder girdle muscle atrophy, Musc...	OMIM:606612
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Aicardi-Goutieres Syndrome 3	Spasticity, Elevated circulating hepatic transaminase concentration, Generalized hypotonia, Hypot...	OMIM:610329
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Tremor, Rigidity, Loss of ambulation, Hepatomegaly...	OMIM:615010
3-Methylglutaconic Aciduria, Type I	Reduced tissue 3-methylglutaconyl-CoA hydratase activity, Spasticity, 3-Methylglutaconic aciduria...	OMIM:250950
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Joint s...	ORPHA:40
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Hypotonia, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 1	Babinski sign, Increased circulating lactate concentration	OMIM:249500
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Dystonia 32	Limb dystonia, Torticollis, Laryngeal dystonia	OMIM:619637
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia	OMIM:618425
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia	ORPHA:36899
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:615453
Coenzyme Q10 Deficiency, Primary, 5	Increased circulating lactate concentration, Generalized hypotonia, Intrauterine growth retardati...	OMIM:614654
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Generalized hypotonia, Hypotonia, Lactic acidosis, M...	OMIM:618226
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232220
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa...	OMIM:617519
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Hypotonia, Myoclonus, Kyphoscoliosis, Hyperkin...	ORPHA:561854
Cog2-Cdg	Decreased liver function	ORPHA:435934
Mitochondrial Complex I Deficiency, Nuclear Type 24	Hypotonia, Increased circulating lactate concentration	OMIM:618245
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A...	ORPHA:1215
Combined Oxidative Phosphorylation Deficiency 13	Increased circulating lactate concentration, Skeletal muscle atrophy, Severe muscular hypotonia, ...	OMIM:614932
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Glutaric Acidemia I	Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Gen...	OMIM:231670
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr...	OMIM:618752
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ...	ORPHA:75840
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Hypotonia, Limb dystonia, Foot dorsiflexor weakness,...	OMIM:619054
Encephalopathy Due To Prosaposin Deficiency	Hypotonia, Myoclonus, Splenomegaly, Hepatomegaly, Dystonia	ORPHA:139406
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:613561
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ...	ORPHA:263501
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Hypermanganesemia With Dystonia 1	Hepatomegaly, Cirrhosis, Decreased liver function, Elevated circulating hepatic transaminase conc...	OMIM:613280
Baker-Gordon Syndrome	Involuntary movements, Neonatal hypotonia, Inability to walk, Joint hypermobility, Hyperkinetic m...	OMIM:618218
Charcot-Marie-Tooth Disease, Type 4K	Increased circulating lactate concentration, Skeletal muscle atrophy, Difficulty walking, Kyphosc...	OMIM:616684
Babesiosis	Hepatic failure, Nausea and vomiting, Anorexia, Hepatomegaly, Jaundice	ORPHA:108
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Gait disturbance, Lower limb spasticity...	OMIM:618418
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Thrombocytopenia,...	OMIM:185070
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Attenuation of retinal...	OMIM:619260
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ...	ORPHA:567544
Hemochromatosis, Type 4	Glucose intolerance, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepatomegaly, Diabetes mellitu...	OMIM:606069
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Severe X-Linked Mitochondrial Encephalomyopathy	Tongue fasciculations, Increased circulating lactate concentration, Involuntary movements, Increa...	ORPHA:238329
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Hypotonia, Lactic acidosis, Myopathy, Delayed puberty, Scoliosis...	ORPHA:2598
Mitochondrial Myopathy With Lactic Acidosis	Increased circulating lactate concentration, Spasticity, Elevated serum anion gap, Tip-toe gait, ...	OMIM:251950
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:613327
Acyl-Coa Dehydrogenase 9 Deficiency	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	ORPHA:99901
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Abnormal vertebral morphology, Abnormality of the vertebral column, Hypotonia, Myo...	OMIM:250620
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Growth delay, Difficulty walking, Chorea...	OMIM:615673
Spastic Paraplegia 47, Autosomal Recessive	Spastic paraplegia, Spasticity, Neonatal hypotonia, Inability to walk, Babinski sign, Hypertonia,...	OMIM:614066
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Tetraparesis, Infantile muscular hypotonia, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:263410
Mitochondrial Myopathy, Infantile, Transient	Increased circulating lactate concentration, Generalized hypotonia, Lactic acidosis, Increased mu...	OMIM:500009
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait...	ORPHA:96
Combined Oxidative Phosphorylation Deficiency 18	Increased circulating lactate concentration, Skeletal muscle atrophy, Methylmalonic aciduria, Int...	OMIM:615578
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperp...	OMIM:615605
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Kyphosis, Increased serum serotonin	ORPHA:85288
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Heme Oxygenase 1 Deficiency	Increased circulating lactate dehydrogenase concentration, Cervical lymphadenopathy, Elevated cir...	OMIM:614034
Leukodystrophy, Hypomyelinating, 14	Dystonia, Spasticity, Growth delay, Generalized hypotonia	OMIM:617899
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased urinary glycerol...	ORPHA:348
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Blepharonasofacial Malformation Syndrome	Torsion dystonia, Facial palsy	OMIM:110050
Spinocerebellar Ataxia 17	Broad-based gait, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysmetria, Rigidity, Gai...	OMIM:607136
Developmental And Epileptic Encephalopathy 53	Dystonia, Hypotonia, Increased circulating lactate concentration, Spastic tetraplegia	OMIM:617389
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	ORPHA:367
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Thin skin	ORPHA:157965
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Parkinsonism, Short neck, Ataxia, Bradykinesia, Spastic tetraplegia, Choreoatheto...	OMIM:300055
Ataxia-Telangiectasia	Spasticity, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Apl...	ORPHA:100
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure	OMIM:618567
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl...	OMIM:614817
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest...	OMIM:615895
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,...	OMIM:613877
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Spastic Paraplegia 53, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Upper limb hypertonia, Joint hypermobility, Gai...	OMIM:614898
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di...	OMIM:617145
Wilson Disease	Osteomalacia, Acute hepatic failure, Limb dystonia, Hepatic steatosis, Limb muscle weakness, Cirr...	OMIM:277900
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hypogonadism, Renal insufficiency, Hepatic steatosis, Hydronephrosis, Patent du...	OMIM:615996
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypotonia, Lactic acidosis...	OMIM:306000
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Hypermanganesemia With Dystonia 2	Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait...	OMIM:617013
Atypical Hemolytic Uremic Syndrome	Proteinuria, Abnormal circulating lactate dehydrogenase concentration, Acute kidney injury, Hemat...	ORPHA:2134
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Spasticity, Type I diabetes mellitus, Increased circulating lactate concen...	OMIM:618397
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ...	ORPHA:3032
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Ky...	ORPHA:101078
Hsd10 Disease, Infantile Type	Increased circulating lactate concentration, Poor coordination, Hypoglycemia, Hypotonia, Abnormal...	ORPHA:391428
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spasticity, Progressive spastic paraplegia, Difficulty walking, Hypotonia, Facial hypotonia, Gene...	ORPHA:280763
Ataxia-Telangiectasia-Like Disorder	Generalized hypotonia, Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Joint hypermo...	ORPHA:251347
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Webbed neck, Joint contracture of the hand, Cigarette-paper scars, Camptodactyly of finger, Thin ...	OMIM:612350
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst...	ORPHA:98811
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Elevated serum anion gap, Ketoacidosis, Hypoglycemia, Gait imbalance, ...	OMIM:618120
Leigh Syndrome	Spasticity, 3-Methylglutaconic aciduria, Myopathy, Ataxia, Nephrotic syndrome, Choreoathetosis, G...	ORPHA:506
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Protein avoidance, Episodic vomiting, Hepatomegaly	OMIM:238970
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased circulating lactate concentration, Generalized hypotonia, Hypotonia, Gait imbalance, My...	OMIM:301020
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia, Reduced malonyl-CoA deca...	OMIM:248360
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauter...	ORPHA:254531
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration	ORPHA:156
Mitochondrial Complex I Deficiency, Nuclear Type 26	Increased circulating lactate concentration, Distal amyotrophy, Metabolic acidosis, Limb hyperton...	OMIM:618247
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Micronodular...	ORPHA:139507
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls, Axial hypotonia	OMIM:619647
Combined Oxidative Phosphorylation Deficiency 43	Increased circulating lactate concentration, Intrauterine growth retardation, Neonatal hypotonia	OMIM:618851
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Upper limb muscle weakness, Lower limb muscle weakness, Tetraparesis, Cogwheel rigidi...	ORPHA:225154
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase...	ORPHA:331206
Solitary Fibrous Tumor	Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Low back pain,...	ORPHA:2126
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased circulating lactate concentration, Hypotonia, Lactic acidosis, Myoclonus, Tremor, Abnor...	ORPHA:139485
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Neonatal death, Lacticacidu...	OMIM:619003
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Spasticity, Increased circulating lactate concentration, Hypoglycemia, Generalized hypotonia, Ina...	OMIM:614739
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Proximal t...	OMIM:212065
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Elevated total serum tryptase, Decreased liver function, H...	ORPHA:98850
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Coenzyme Q10 Deficiency, Primary, 7	Increased circulating lactate concentration, Neonatal hypotonia, Hypotonia, Intrauterine growth r...	OMIM:616276
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Hypotonia, Positive Romberg sign, Dysmetria, Weakness of facial musculature, Loss of ...	OMIM:618088
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Spasticity, Increased circulating lactate concentration, Ketonuria, Lower limb muscle weakness, G...	OMIM:251900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Chorea, Hypotonia, Renal insufficiency, Hemiplegia/hemiparesis, Renal tubular dysfunction, Pancre...	ORPHA:289916
Developmental And Epileptic Encephalopathy 7	Dystonia, Hypotonia, Spastic tetraparesis	OMIM:613720
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hypoglycemia, Hypotonia, Splenomegaly, Increased hepatic glyco...	OMIM:261750
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia, Dysmetria, Dystoni...	OMIM:616127
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Spasticity, Steroid-resistant nephrotic syndrome, Stage 5 chr...	OMIM:617731
Hepatic Veno-Occlusive Disease	Hepatomegaly, Abdominal pain, Jaundice, Elevated circulating hepatic transaminase concentration	ORPHA:890
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Kyphosis, Neonatal hypotonia,...	OMIM:255200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Spastic paraplegia, Neonatal hypotonia, Lactic acidosis, Metabolic acidosis, Dystonia, Ataxia, Un...	OMIM:245349
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Increased circulating lactate concentration, Generalized hypotonia, In...	ORPHA:319514
Combined Oxidative Phosphorylation Deficiency 50	Short stature, Adrenal insufficiency, Intrauterine growth retardation, Generalized dystonia	OMIM:619025
Multiple Acyl-Coa Dehydrogenase Deficiency	Metabolic acidosis, Rhabdomyolysis, Hepatomegaly, Polycystic kidney dysplasia, 3-Methylglutaric a...	ORPHA:26791
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H...	ORPHA:1652
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Scoliosis, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walking,...	OMIM:607155
Xfe Progeroid Syndrome	Severe short stature, Elevated circulating hepatic transaminase concentration, Renal insufficienc...	OMIM:610965
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Spasticity, Osteopenia, Intrauterine growth retardation, Portal hypertension, A...	OMIM:617341
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Infantile muscul...	ORPHA:453521
Dystonia 31	Arm dystonia, Generalized dystonia, Difficulty walking, Leg dystonia, Parkinsonism, Craniofacial ...	OMIM:619565
Masa Syndrome	Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Short statu...	OMIM:303350
Neurodegeneration With Brain Iron Accumulation 8	Increased circulating lactate concentration, Hypotonia, Tremor, Dysmetria, Loss of ambulation, At...	OMIM:617917
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Increased circulating lactate concentration, Inability to walk, Horseshoe kidney, Hyp...	OMIM:617664
Congenital Disorder Of Glycosylation, Type Ih	Diarrhea, Vomiting, Decreased liver function, Cholestasis, Neonatal death, Abdominal distention, ...	OMIM:608104
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Feeding difficulties in infancy, Decreased liver function	OMIM:618437
Wilson Disease	Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:905
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Osteopenia, Increased ...	ORPHA:79259
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of a...	OMIM:208920
Peroxisome Biogenesis Disorder 5B	Decreased liver function	OMIM:614867
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased circulating lactate concentration, Spasticity, Growth delay	OMIM:617613
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaric aciduria, Spasticity, Increased circulating lactate concentration, Generalized h...	OMIM:617698
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Difficulty walking, Urinary urgency, Dysmetria, Ankle clonus, Dystonia, Babin...	OMIM:612319
Friedreich Ataxia	Spasticity, Falls, Urinary bladder sphincter dysfunction, Inability to walk, Chorea, Gait imbalan...	ORPHA:95
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Decreased response to growth hormone stimulation test, Intrau...	OMIM:618347
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy...	OMIM:611126
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa...	ORPHA:2457
Coach Syndrome 1	Spasticity, Occipital encephalocele, Encephalocele, Cirrhosis, Ataxia, Hepatomegaly, Dystonia, He...	OMIM:216360
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Upper limb hypertonia, Limb dystonia, Joint hypermobility, Clonus, ...	ORPHA:319199
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal...	ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 10	Increased circulating lactate concentration, Spasticity, Hypoglycemia, Intrauterine growth retard...	OMIM:614702
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Leg muscle s...	ORPHA:391411
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyp...	OMIM:232400
Alg1-Cdg	Chronic diarrhea, Decreased liver function	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 37	Elevated gamma-glutamyltransferase level, Spasticity, Elevated circulating hepatic transaminase c...	OMIM:618329
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, T...	OMIM:271530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park...	OMIM:258450
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey...	ORPHA:79133
Aicardi-Goutieres Syndrome 4	Spasticity, Elevated circulating hepatic transaminase concentration, Intrauterine growth retardat...	OMIM:610333
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Kyphosis, Generalized dystonia, Generalized hypotonia, Inability to walk, Hypotoni...	OMIM:128100
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Scarring, Skin plaque, Subcutaneous nodule...	ORPHA:89843
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased circulating lactate concentration, Episodic ataxia, Generalized hypotonia, Chronic lact...	OMIM:312170
Sandhoff Disease	Splenomegaly, Abnormal glycosphingolipid metabolism, Ataxia, Hepatomegaly, Kyphosis	ORPHA:796
Leukodystrophy, Hypomyelinating, 18	Spasticity, Scoliosis, Dysmetria, Babinski sign, Dystonia, Progressive spasticity, Flexion contra...	OMIM:618404
Sialidosis Type 1	Aminoaciduria, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Urinary excretion ...	ORPHA:812
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Dystonia 22, Juvenile-Onset	Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower limb spasticity, Tor...	OMIM:620453
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Spasticity, Increased circulating lactate concentration, Skeletal muscle atrophy, ...	OMIM:612073
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Red-brown urine, Dicarboxylic aciduria, Generalized hypotonia, Hypoketotic hypog...	ORPHA:228308
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Impaired pain sensation, Hypotonia, Foot dorsiflexor weakness, Distal sensory impairment, Loss of...	OMIM:618124
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Dystonia, Generalized hypotonia	OMIM:616763
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Difficulty walking, Stage 3 chronic kidney disease, Int...	OMIM:617595
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,...	OMIM:248800
Pearson Syndrome	Postnatal growth retardation, Hepatic steatosis, Ataxia, Hypoparathyroidism, Hepatomegaly, Hypopl...	ORPHA:699
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations...	OMIM:615157
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Dicarboxylic aciduria, Exercise-induced myoglobinur...	OMIM:201475
Blue Diaper Syndrome	Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase c...	ORPHA:94086
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Distal amyotrophy, Tip-toe gait, Rigidity, Dystonia, Gait disturbance, Oroma...	OMIM:615643
Isolated Atp Synthase Deficiency	Spastic paraplegia, Renal hypoplasia, Hypogonadism, Hypotonia, Lactic acidosis, 3-Methylglutaconi...	ORPHA:254913
Alternating Hemiplegia Of Childhood 2	Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis	OMIM:614820
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Distal amyotrophy, Lower limb muscle weakness, Myoclonus, Dysmet...	OMIM:614487
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Tremor,...	ORPHA:289494
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Reduced bone mineral density, Kyphosis, Delayed ossification of carpal bones, Wadd...	OMIM:618392
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:98855
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Bone cyst...	ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal hypotonia, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransfer...	OMIM:608836
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Elevated circulating hepatic transaminase concentration, Ketonuria, Increa...	ORPHA:480864
Rett Syndrome	Increased circulating lactate concentration, Skeletal muscle atrophy, Abnormal muscle tone, Diffi...	ORPHA:778
Sengers Syndrome	Osteopenia, Increased circulating lactate concentration, Exercise-induced lactic acidemia, Genera...	OMIM:212350
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Fasciculations, Difficulty walking, Gene...	OMIM:610717
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp...	ORPHA:98863
19P13.12 Microdeletion Syndrome	Precocious puberty, Arthrogryposis multiplex congenita, Intrauterine growth retardation, Hypotoni...	ORPHA:254346
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Generalized hypotonia, Hypotonia, Scheuermann-like vertebral chan...	OMIM:301900
Combined Oxidative Phosphorylation Defect Type 39	Involuntary movements, Increased circulating lactate concentration, Tip-toe gait, Infantile axial...	ORPHA:565624
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Lactic acidosis, Hypotonia, Metabolic acidosis, Severe muscular ...	OMIM:615330
Periventricular Nodular Heterotopia	Hernia, Thin skin	ORPHA:98892
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho...	ORPHA:71277
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hypotonia, Hep...	OMIM:616263
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Generalized bone demineralization, Sh...	OMIM:215250
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Generalized hypotonia, Postural tremor, Hypotonia, Myocl...	ORPHA:101150
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Spinocerebellar Ataxia, Autosomal Recessive 29	Generalized dystonia, Inability to walk, Hypotonia, Lower limb spasticity, Ataxia, Axial hypotonia	OMIM:619389
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Osteopenia, Platyspondyly, Elevated circulating thyroid-stimu...	OMIM:242900
Mitochondrial Complex I Deficiency, Nuclear Type 13	Acidosis, Spasticity, Generalized dystonia, Metabolic acidosis, Hepatomegaly	OMIM:618235
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Camptodactyly, Kyphosis	OMIM:618453
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased circulating lactate concentration, Spasticity, Inability to walk, Hypotonia, Dysmetria,...	OMIM:617954
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Cdkl5-Deficiency Disorder	Impaired pain sensation, Abnormal muscle tone, Difficulty walking, Gait disturbance, Scoliosis, G...	ORPHA:505652
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 12	Increased circulating lactate concentration, Neonatal hypotonia, Spastic tetraparesis, Cholestasi...	OMIM:614924
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E...	ORPHA:158061
Genetic Recurrent Myoglobinuria	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:99845
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Myo...	ORPHA:79086
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Skeletal muscle atrophy, Generalized hypotonia, Hypo...	OMIM:618228
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Head tremor, Hypotonia, Joint hypermobility, Proteinuria, Glomerular sclerosis, Glom...	OMIM:619428
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Leukodystrophy, Hypomyelinating, 21	Tetraparesis, Hypogonadotropic hypogonadism, Ataxia, Dystonia, Athetosis, Growth delay	OMIM:619310
Focal Dermal Hypoplasia	Alopecia, Multicystic kidney dysplasia, Camptodactyly of finger, Umbilical hernia, Dermal atrophy...	ORPHA:2092
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Decreased lecithin cholesterol acyl transferase level, Renal insufficiency, Hypertri...	OMIM:245900
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, ...	OMIM:600995
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence...	OMIM:618093
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Facial myokymia, Parkinsonism, Dysdiadocho...	OMIM:604326
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Lactic acidosis, Hepatic steatosis, Pancreatitis, Elevated circulating alanine ...	OMIM:618805
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Abnormal circulating enzyme concentration or activity, Myoclonus, Dysmetria, ...	ORPHA:79263
Congenital Disorder Of Glycosylation, Type Iibb	Increased circulating lactate concentration, Spasticity, Skeletal muscle atrophy, Tetraparesis, A...	OMIM:620546
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alopecia of scalp, Aplasia cuti...	ORPHA:79402
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, Myoclonus, Hyperkinetic move...	OMIM:614254
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Mitochondrial Complex I Deficiency, Nuclear Type 33	Spasticity, Increased circulating lactate concentration, Hypoglycemia, Generalized hypotonia, Int...	OMIM:618253
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Mitochondrial Complex I Deficiency, Nuclear Type 30	Intrauterine growth retardation, Metabolic acidosis, Neonatal death	OMIM:301021
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary neopterin level, Generalized hypotonia, Hypotonia, Tremor, Rigidity, Hyperkinet...	OMIM:233910
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis...	ORPHA:435651
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Hepatic failure	ORPHA:261519
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proxima...	ORPHA:435660
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Spasticity, Inability to walk, Hypotonia, Dystonia	OMIM:617820
Citrullinemia Type I	Vomiting, Hepatic failure, Gastroesophageal reflux, Feeding difficulties	ORPHA:247525
Acute Peripheral Arterial Occlusion	Acidosis, Paresthesia, Limb muscle weakness, Paralysis, Impaired distal tactile sensation	ORPHA:90064
Intellectual Developmental Disorder, X-Linked 111	Spasticity, Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia	OMIM:301107
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Dermal atrophy, Alopecia of scalp	OMIM:617294
Developmental And Epileptic Encephalopathy 92	Spasticity, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia	OMIM:617829
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Chorea, Dystonia, Ataxia, Poor coordination, Paroxysmal dyskinesia, Axial hypotonia	OMIM:619150
Xp22.3 Microdeletion Syndrome	Decreased fertility, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Secondary ame...	ORPHA:1643
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized hypotonia, Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia	OMIM:617836
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:98853
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Decreased ser...	OMIM:615238
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Spasticity, Increased circulating lactate concentra...	OMIM:246450
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Harel-Yoon Syndrome	Spasticity, Increased circulating lactate concentration, Distal amyotrophy, Inability to walk, Hy...	OMIM:617183
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Aplasia cuti...	ORPHA:217346
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Homocystinuria, Limitation of joint mobility, Hepatic steatosis, Biconc...	OMIM:236200
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Hypotonia, Myoclonus, Facial myokymia, Limb hypert...	OMIM:606703
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Kyphoscolio...	ORPHA:459033
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Increased circulating lactate concentration, Hyperechogenic kidneys, Hypo...	OMIM:613845
Hsd10 Mitochondrial Disease	Spasticity, Hypoglycemia, Generalized hypotonia, Hypotonia, Lactic acidosis, Metabolic acidosis, ...	OMIM:300438
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Hypotonia, Urinary...	OMIM:312080
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Hypotonia, Lactic acidosis, Myoclonus, Rigidity, Loss of ambulat...	OMIM:618241
Seckel Syndrome 10	Severe short stature, Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing ho...	OMIM:617253
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol...	ORPHA:401768
Glycogen Storage Disease Xi	Increased circulating lactate concentration, Renal insufficiency, Rhabdomyolysis, Rigidity, Myogl...	OMIM:612933
Raynaud-Claes Syndrome	Generalized hypotonia, Hypotonia, Lower limb spasticity, Dystonia, Scoliosis, Progressive cerebel...	OMIM:300114
Becker Muscular Dystrophy	Elevated circulating hepatic transaminase concentration, Falls, Tip-toe gait, Skeletal muscle atr...	ORPHA:98895
Dystonia 28	Precocious puberty, Arm dystonia, Generalized dystonia, Leg dystonia, Hypothyroidism, Abnormal py...	ORPHA:589618
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso...	OMIM:615528
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Tremor-Ataxia-Central Hypomyelination Syndrome	Spasticity, Impaired vibration sensation in the lower limbs, Postural tremor, Positive Romberg si...	ORPHA:447896
2P21 Microdeletion Syndrome	Hypoglycemia, Hypogonadism, Hypotonia, Lactic acidosis, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Increased circulating lactate concentration, Neonatal hypoglycemia, F...	OMIM:240600
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n...	OMIM:610532
Combined Oxidative Phosphorylation Deficiency 2	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:610498
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Cirrhosis, Hepatomegaly, Steatorrhea	OMIM:602579
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Milia, Nail dystrophy, Aplasia cutis congenita	ORPHA:79411
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Hypotonia, Stage 5 chronic kidney disease, Hematuria, Protein...	OMIM:618349
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Generalized hypotonia, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dys...	ORPHA:71517
Lopes-Maciel-Rodan Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Un...	OMIM:617435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Broad-based gait, Increased circulating lactate concentration, Skeletal muscle atrophy, Lower lim...	OMIM:616479
Cystinosis, Nephropathic	Oral motor hypotonia, Metabolic acidosis, Myopathy, Hematuria, Episodic metabolic acidosis, Hepat...	OMIM:219800
Interstitial Lung And Liver Disease	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Vomiting, Cholestasi...	OMIM:615486
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Spasticity, Urinary incontinence, Arm dystonia, Neonatal hypotonia,...	ORPHA:88644
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Acute hepatic failure, 3-Methylglutaconic aciduria, Ataxia, Hepatomegaly, Jaundice,...	OMIM:203700
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Elev...	OMIM:222748
Cockayne Syndrome Type 1	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot joint contractur...	ORPHA:90321
Pyruvate Dehydrogenase E1-Alpha Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Inability to walk, Intra...	ORPHA:79243
Leukodystrophy, Hypomyelinating, 4	Spastic paraplegia, Increased circulating lactate concentration, Hypotonia, Babinski sign, Head t...	OMIM:612233
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Spasticity, Hypotonia, Stage 5 chronic kidney disease, Congen...	OMIM:617730
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Abnormal sacral segmentation, Generalized hypotonia, Postnatal growth retardation, Tremor, Joint ...	ORPHA:480907
Spinocerebellar Ataxia 28	Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Babi...	OMIM:610246
D-Glyceric Aciduria	Aminoaciduria, Spasticity, Neonatal hypotonia, Hypoglycemia, Hypotonia, Myoclonus, Appendicular s...	OMIM:220120
Neurodegeneration With Brain Iron Accumulation 7	Hypotonia, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Axial ...	OMIM:617916
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Spastic paraplegia, Increased circulating lactate concentration, Increased variability in muscle ...	OMIM:619026
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating lactate concentration, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:620300
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Arm dystonia, Episodic ataxia, Incoordination, Episodic generalized hypotonia, Hypotonia, Gait at...	OMIM:601338
Progressive Myoclonic Epilepsy With Dystonia	Generalized neonatal hypotonia, Hemiplegia, Myoclonus, Abnormality of extrapyramidal motor functi...	ORPHA:352596
Developmental And Epileptic Encephalopathy 16	Hypotonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Severe muscular ...	OMIM:615338
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Platyspondyly...	ORPHA:1830
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Neonatal hypotonia...	ORPHA:536516
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra...	ORPHA:500180
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Progressive flexion contrac...	ORPHA:2028
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Spasticity, Increased circulating lactate concentration, Gait ataxia, 3-Methylglutaconic aciduria...	ORPHA:496790
Combined Oxidative Phosphorylation Deficiency 4	Spasticity, Increased circulating lactate concentration, Neonatal hypotonia, Intrauterine growth ...	OMIM:610678
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Reduced circulating aldolase concentration, Decreased muscle mass, Muscle fi...	ORPHA:57
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Kyphosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Genera...	OMIM:130060
Alstrom Syndrome	Nephritis, Elevated circulating hepatic transaminase concentration, Scoliosis, Kyphosis, Insulin-...	OMIM:203800
Nail-Patella Syndrome	Thickened glomerular basement membrane, Decreased muscle mass, Contracture of the distal interpha...	ORPHA:2614
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Skelet...	OMIM:620538
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg...	OMIM:606003
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton...	OMIM:618824
Cutis Laxa, Autosomal Recessive, Type Iiia	Umbilical hernia, Sparse hair, Inguinal hernia, Thin skin	OMIM:219150
Peroxisome Biogenesis Disorder 8B	Constipation, Dysphagia, Decreased liver function	OMIM:614877
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Increased circulating lactate concentration, Spasticity, Generalized hypotonia, Hypotonia, Elevat...	OMIM:616277
Gm1 Gangliosidosis	Spasticity, Hepatosplenomegaly, Ataxia, Unsteady gait, Patent ductus arteriosus, Coarse metaphyse...	ORPHA:354
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Dystonia 15, Myoclonic	Dystonia, Myoclonus, Writer's cramp	OMIM:607488
Spinocerebellar Ataxia Type 2	Fasciculations, Generalized hypotonia, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkinsoni...	ORPHA:98756
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased circulating lactate concentration, Hypotonia, Chorea, Generalized hypotonia	OMIM:614055
Distal Renal Tubular Acidosis	Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Increased susceptibility to fractu...	ORPHA:18
Pontocerebellar Hypoplasia, Type 13	Decreased liver function, Feeding difficulties, Constipation	OMIM:618606
Severe Oculo-Renal-Cerebellar Syndrome	Spasticity, Hypotonia, Renal insufficiency, Joint hypermobility, Proteinuria, Glomerulopathy, Sho...	ORPHA:2715
Spinocerebellar Ataxia, Autosomal Recessive 31	Tremor, Lumbar kyphoscoliosis, Ataxia, Dystonia, Growth delay, Choreoathetosis, Axial hypotonia	OMIM:619422
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia, Short st...	OMIM:619052
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Increased circulating lactate concentration, Hypoglycemia, Generalized hypotonia, ...	OMIM:619055
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Hypoglycemia, Increased circulating prolactin concentration, Hypotonia, Tremor...	ORPHA:35708
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Lack of bowel sounds, M...	ORPHA:100075
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ...	OMIM:300554
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Urinary urgency	OMIM:605909
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Hypomimic face, B...	ORPHA:70594
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Beta 2-microglobulinuria, Decreas...	ORPHA:97362
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased circulating lactate concentration, Neonatal hypotonia, Lactic acidosis, Lacticaciduria,...	ORPHA:79246
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Axial hypotonia, Tremor	OMIM:619651
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Hypomimic face, Unsteady gait	OMIM:128235
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo...	OMIM:606777
Galloway-Mowat Syndrome	Nephropathy, Camptodactyly of finger, Intrauterine growth retardation, Hypotonia, Hemiplegia/hemi...	ORPHA:2065
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis, Skel...	ORPHA:99014
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis	OMIM:620367
Myoclonus, Familial, 2	Dystonia, Limb myoclonus	OMIM:618364
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Elevated circulating aspart...	OMIM:609015
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Generalized hypotonia, Abnormality of coordination, Limb dysto...	ORPHA:352649
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Huntington Disease-Like 2	Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Dystonia	ORPHA:98934
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth...	OMIM:231900
Pelizaeus-Merzbacher Disease	Spasticity, Abnormality of the urinary system, Kyphosis, Hypotonia, Joint stiffness, Gait disturb...	ORPHA:702
Spastic Ataxia 3, Autosomal Recessive	Spasticity, Gait ataxia, Dysmetria, Loss of ambulation, Spastic ataxia, Neurogenic bladder, Ataxi...	OMIM:611390
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul...	ORPHA:79321
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Paresthesia, Lact...	ORPHA:298
Juvenile Huntington Disease	Broad-based gait, Oral motor hypotonia, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Ataxi...	ORPHA:248111
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Sparse scalp hair, T...	OMIM:607823
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste...	ORPHA:79085
Beta-Ketothiolase Deficiency	Acidosis, Spasticity, Increased circulating lactate concentration, Ketonuria, Ketoacidosis, Hypog...	ORPHA:134
Glycogen Storage Disease Iv	Hepatosplenomegaly, Cirrhosis, Portal hypertension, Hepatic failure	OMIM:232500
Kaya-Barakat-Masson Syndrome	Spasticity, Generalized hypotonia, Intrauterine growth retardation, Limb dystonia, Scoliosis, Spa...	OMIM:619125
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Leigh Syndrome, Nuclear	Increased circulating lactate concentration, Spasticity, Hepatocellular necrosis, Generalized hyp...	OMIM:256000
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Generalized hypotonia, Hypotonia, Glucose intolerance, Joint contracture of the 5th finger, Trunc...	OMIM:614407
Neurodevelopmental Disorder With Dystonia And Seizures	Intrauterine growth retardation, Chorea, Hypotonia, Dystonia, Athetosis, Spastic tetraplegia	OMIM:619922
Riboflavin Deficiency	Hypoglycemia, Dicarboxylic aciduria, Hypotonia, Lactic acidosis, Metabolic acidosis	OMIM:615026
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Umbilical hernia, Generalized hypotonia, Intrauterine growth retardation, Hyperto...	OMIM:615834
Wieacker-Wolff Syndrome	Spasticity, Distal amyotrophy, Scoliosis, Kyphosis, Generalized hypotonia, Hypotonia, Apraxia, Oc...	OMIM:314580
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Accessory spleen, Increased circulating lactate concentration, Hypogly...	OMIM:619418
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp...	OMIM:616113
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Hypogonadotrop...	OMIM:607694
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atrophy, Loss of ambul...	ORPHA:324442
Pyruvate Dehydrogenase E2 Deficiency	Neonatal hypotonia, Generalized dystonia, Hypotonia, Lactic acidosis, Paroxysmal dystonia, Oculom...	OMIM:245348
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Hypotonia, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Scolio...	OMIM:619317
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Shuffling gait, Hypotonia, Gait ataxia, Intention tremor, Dysmetria, Abnormal p...	OMIM:617964
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Hyperphenylalaninemia, Bh4-Deficient, C	Hypotonia, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Gaucher Disease Type 2	Spasticity, Splenomegaly, Hepatomegaly, Dystonia, Flexion contracture	ORPHA:77260
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, K...	ORPHA:466722
Dpm1-Cdg	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Muscular d...	ORPHA:79322
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Short Syndrome	Absence of subcutaneous fat, Inguinal hernia, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:269880
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Distal amyotrophy, Lower limb muscle weakness, Myoclonus, Dysmet...	ORPHA:313772
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas...	OMIM:232240
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Increased circulating lactate concentration, 3-Methylglutaconic ...	OMIM:604273
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:615471
Atrophoderma Vermiculata	Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ...	ORPHA:79100
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Oculogyric crisis, Generalized hypotonia, Dystonia, Parkinsonism, Limb hyperton...	OMIM:617384
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement	OMIM:617006
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Intrauterine...	ORPHA:765
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Maple Syrup Urine Disease, Type Ia	Increased level of hippuric acid in urine, Hypoglycemia, Generalized hypotonia, Hypotonia, Lactic...	OMIM:248600
Winchester Syndrome	Kyphosis, Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis	OMIM:277950
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased circulating lactate deh...	OMIM:611881
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Spasticity, Elevated circulating hepatic transaminase concentration, K...	ORPHA:20
Infantile Dystonia-Parkinsonism	Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ...	ORPHA:238455
Spondylometaphyseal Dysplasia, X-Linked	Severe short stature, Platyspondyly, Sclerosis of skull base, Knee flexion contracture, Hip contr...	OMIM:313420
Pseudo-Torch Syndrome 1	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Decreased liver ...	OMIM:251290
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Generalized hypotonia, Hypogonadism, Hypotonia, Distal lower limb amyotrophy, Gait ataxia, Tremor...	OMIM:300354
Tay-Sachs Disease	Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Precocious puberty, Ina...	ORPHA:845
Hemiparkinsonism-Hemiatrophy Syndrome	Generalized hypotonia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykine...	ORPHA:306669
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Joint contracture of the hand, Congenital contracture, Cerebral palsy, Umbilical hern...	ORPHA:352490
Developmental And Epileptic Encephalopathy 27	Spasticity, Chorea, Hypotonia, Myoclonus, Dystonia, Axial hypotonia	OMIM:616139
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Left...	OMIM:617228
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased circulating lactate concentration, Difficulty walking, Infantile axial hypotonia, Intra...	ORPHA:572798
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of lumbar vertebrae, Hepatomegaly, Absent/hypoplast...	OMIM:230000
Leukodystrophy, Hypomyelinating, 6	Spasticity, Hypotonia, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia, Cho...	OMIM:612438
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Spinocerebellar Ataxia 14	Gait ataxia, Dysmetria, Facial myokymia, Focal dystonia, Impaired vibration sensation at ankles, ...	OMIM:605361
Aceruloplasminemia	Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Chorea, Akinesia, Limb ataxia...	ORPHA:48818
Mucolipidosis Iv	Generalized hypotonia, Hypotonia, Hypergastrinemia, Babinski sign, Dystonia, Ganglioside accumula...	OMIM:252650
Spondyloenchondrodysplasia	Chronic kidney disease, Platyspondyly, Spasticity, Hepatitis, Decreased response to growth hormon...	ORPHA:1855
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Ketonuria, Left ventricular noncompaction, Hypotonia, Lactic acidosis, Myoclonus, Neonata...	OMIM:619167
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki...	OMIM:618317
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:615630
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis	OMIM:118800
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Organic aciduria, Neonatal hypotonia, Renal tubular acidosis, Dystonia, Progressive spastic quadr...	ORPHA:431361
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Skeletal muscle atrophy, Fasciculations, Generalized hypotonia, Ch...	ORPHA:98755
Alternating Hemiplegia Of Childhood 1	Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia	OMIM:104290
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ...	ORPHA:98907
Macrocephaly-Intellectual Disability-Autism Syndrome	Hypotonia, Thyroid carcinoma, Penile freckling, Hepatic steatosis, Hurthle cell thyroid adenoma	ORPHA:210548
Abetalipoproteinemia	Broad-based gait, Positive Romberg sign, Hepatic steatosis, Myopathy, Cirrhosis, Ataxia, Hepatome...	ORPHA:14
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Decreased methylmalonyl-CoA mutase activity, Cy...	OMIM:277400
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Limb muscle weakness, Myopathy, Ataxia, Hypomimic face, Bradykinesia, Increased c...	ORPHA:254892
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Neonatal death, Short neck, Camptodactyly, Arthrogryposis multiplex cong...	OMIM:618393
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hype...	ORPHA:247585
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea...	ORPHA:97355
Baralle-Macken Syndrome	Spasticity, Neonatal hypotonia, Inability to walk, Urinary incontinence, Dystonia, Kyphosis	OMIM:619255
Pigmented Nodular Adrenocortical Disease, Primary, 2	Striae distensae, Pancreatitis, Thin skin	OMIM:610475
Ataxia-Telangiectasia-Like Disorder 1	Distal amyotrophy, Dysdiadochokinesis, Chorea, Hypotonia, Gait ataxia, Dysmetria, Dystonia, Lower...	OMIM:604391
Combined Oxidative Phosphorylation Deficiency 23	Increased circulating lactate concentration, Hypotonia, Intrauterine growth retardation, Lactic a...	OMIM:616198
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Increased circulating lactate concentration, Ele...	OMIM:614105
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, W...	OMIM:617069
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Anterior wedging of T12, Deficient excision of UV-induced pyrimidin...	OMIM:227645
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Abnormal circulating lactate dehydrogenase concentration, Renal insufficienc...	ORPHA:54057
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Hirsutism, Nephrolithiasis, Oligomenorrhea, Thin skin	OMIM:219090
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg...	ORPHA:231222
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Nephritis, Biliary cirrhosis, Glycosuria, Insulin...	ORPHA:2298
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:158057
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Increased circulating lactate...	OMIM:605711
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Inability to walk, Hypotonia, Spleno...	OMIM:617303
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, P...	OMIM:129400
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Distal amyotrophy, Facial-lingual fasciculations, Fasci...	OMIM:109150
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro...	ORPHA:507
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Developmental And Epileptic Encephalopathy 1	Growth delay, Dystonia, Abnormal pyramidal sign, Hypertonia, Micropenis, Spastic tetraparesis, Er...	OMIM:308350
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Glycosuria, Hypogl...	OMIM:229600
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Glucos...	OMIM:137920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Metabolic acidosis,...	OMIM:611590
Pure Mitochondrial Myopathy	Scoliosis, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Hypotonia, Lumbar hyperlo...	ORPHA:254854
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Myoclonus, Hand tremor, Writer's cramp	OMIM:608105
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Elevated circulating hepatic transaminase ...	ORPHA:275761
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Garg-Mishra Progeroid Syndrome	Platyspondyly, Increased circulating lactate dehydrogenase concentration, Postnatal growth retard...	OMIM:620601
Nephrotic Syndrome, Type 1	Renal insufficiency, Congenital nephrotic syndrome, Hyperlipidemia, Proteinuria, Diffuse mesangia...	OMIM:256300
Flynn-Aird Syndrome	Skeletal muscle atrophy, Impaired pain sensation, Joint stiffness, Primary adrenal insufficiency,...	ORPHA:2047
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Head tremor, Torticollis, Dystonia, Intention tremor, Hypergonadotr...	OMIM:613724
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Hepatic steatosis, Cirrhosis, Bile duct proliferation, Osteopenia, Rickets, Elevated...	OMIM:613658
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Muscle fiber atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Incre...	ORPHA:228302
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Skel...	OMIM:255125
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Chondroitin sul...	OMIM:253000
Leukodystrophy, Hypomyelinating, 25	Dystonia, Hypotonia, Gait ataxia, Growth delay	OMIM:620243
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Hypotonia, Type II diabetes mellitus, Splenomega...	ORPHA:61
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Elevated urine acetoacetic acid level, Increased circulating lactate concentration, A...	OMIM:620089
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Increased circulating lactate concentration, Intrauterine growth retardat...	ORPHA:324525
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Huntington Disease-Like 3	Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram...	ORPHA:157946
Mitochondrial Complex I Deficiency, Nuclear Type 34	Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis	OMIM:618776
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Scoliosis, Kyphosis	OMIM:300434
Trichothiodystrophy	Osteopenia, Spasticity, Umbilical hernia, Generalized hypotonia, Increased bone mineral density, ...	ORPHA:33364
Glycogen Storage Disease V	Failure to elevate lactate upon ischemic exercise test, Dark urine, Exercise-induced rhabdomyolys...	OMIM:232600
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic failure, Red-brown urine, Hypoketotic hypoglycemia, Stage 5 chronic kidney disease, Hyper...	ORPHA:157
16P11.2P12.2 Microduplication Syndrome	Dystonia, Hypospadias	ORPHA:261204
Siddiqi Syndrome	Urinary incontinence, Flexion contracture, Limb dystonia, Lower limb amyotrophy	OMIM:618635
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr...	ORPHA:84090
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Generalized hypotonia, Hypotonia, Stage 5 chronic kidney dise...	OMIM:243910
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Ketonuria, Organic aciduria, Hypoglycemia, Cerebral palsy, Ketoacidosis, General...	OMIM:210210
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Dystonia, Spasticity, Choreoathetosis, Axial hypotonia	OMIM:614249
Idiopathic Copper-Associated Cirrhosis	Increased urinary copper concentration, Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:619644
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce...	ORPHA:3337
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Hypotonia, Scoliosis, Kyphosis	ORPHA:276630
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Combined Oxidative Phosphorylation Deficiency 27	Increased circulating lactate concentration, Tetraparesis, Chorea, Hypotonia, Myoclonus, Microves...	OMIM:616672
Spinocerebellar Ataxia Type 11	Difficulty walking, Gait imbalance, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:98767
Sjögren-Larsson Syndrome	Spasticity, Hypotonia, Joint stiffness, Abnormal pyramidal sign, Short stature, Scoliosis, Kyphos...	ORPHA:816
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Melas	Nephropathy, Type II diabetes mellitus, Myopathy, Hemiparesis, Ataxia, Hypoparathyroidism, Focal ...	ORPHA:550
3-Methylglutaconic Aciduria Type 9	Spasticity, Increased circulating lactate concentration, Hypotonia, 3-Methylglutaconic aciduria, ...	ORPHA:505216
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hyperchloremic acidosis, Proximal...	OMIM:604278
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Hypogonadism, Hypotonia, Joint hypermobility, Gait disturbance, Kyphosis	ORPHA:1875
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerul...	OMIM:614376
Deafness, Dystonia, And Cerebral Hypomyelination	Dystonia, Intrauterine growth retardation, Abnormal pyramidal sign, Tetraplegia	OMIM:300475
Hypomagnesemia 3, Renal	Chronic kidney disease, Elevated circulating alkaline phosphatase concentration, Hematuria, Macro...	OMIM:248250
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atro...	ORPHA:251393
Developmental And Epileptic Encephalopathy 44	Spasticity, Short stature, Dystonia, Athetosis, Axial hypotonia	OMIM:617132
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re...	OMIM:616881
Cockayne Syndrome	Spasticity, Difficulty walking, Postnatal growth retardation, Absence of pubertal development, Ac...	ORPHA:191
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr...	OMIM:615751
Gm1-Gangliosidosis, Type I	Severe short stature, Abnormality of the urinary system, Intrauterine growth retardation, Hypoton...	OMIM:230500
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Growth delay, Nephrocal...	OMIM:276700
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Inguinal hernia, Hernia, Hiatus hernia, Scarring, Femoral...	ORPHA:1901
Striatonigral Degeneration, Infantile	Dystonia, Spasticity, Choreoathetosis	OMIM:271930
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased circulating lactate concentration, Pseudobulbar paralysis, Difficulty walking, Infantil...	ORPHA:438114
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Generalized dystonia, Impaired vibration sensation in the lower limbs, Post...	ORPHA:98808
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Dystonia, Chorea, Axial hypotonia	OMIM:618760
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Ataxia	ORPHA:1171
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Hypogonadism, ...	ORPHA:85450
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Splenomegaly, Hepatomegaly, Osteoporosis, Osteolysis	ORPHA:100024
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Hypotonia, Myoclonus, Ataxia, Urinary incontinence, Dystonia	OMIM:620094
Combined Oxidative Phosphorylation Deficiency 28	Increased circulating lactate concentration, Generalized hypotonia, Ragged-red muscle fibers, Sev...	OMIM:616794
Primary Dystonia, Dyt21 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma...	ORPHA:306734
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp...	ORPHA:2635
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Cockayne Syndrome Type 2	Male hypogonadism, Difficulty walking, Intrauterine growth retardation, Lower limb spasticity, Ga...	ORPHA:90322
Combined Oxidative Phosphorylation Deficiency 33	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:617713
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Scoliosis, N...	OMIM:254090
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal...	ORPHA:2774
Hypokalemic Tubulopathy And Deafness	Acidosis, Hyperaldosteronism, Ataxia, Renal salt wasting, Increased circulating renin level	OMIM:619406
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Neonatal hypotonia, Osteomalacia, Postnatal growth retardation, Pr...	OMIM:309000
Uruguay Faciocardiomusculoskeletal Syndrome	Joint contracture of the hand, Elevated circulating hepatic transaminase concentration, Skeletal ...	OMIM:300280
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Kyphosis, Scapula...	OMIM:181405
Fabry Disease	Lipiduria, Fasciculations, Paresthesia, Renal insufficiency, Proteinuria, Decreased alpha-galacto...	OMIM:301500
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Neonatal hypotonia, Vesicoureteral reflux, Proteinuria, A...	ORPHA:261222
Shashi-Pena Syndrome	Unilateral renal agenesis, Kyphosis, Hypoglycemia, Intrauterine growth retardation, Hypotonia, Ce...	OMIM:617190
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Pancre...	ORPHA:99885
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased circulating lactate concentration, Akinesia, Hypotonia, Renal insufficiency, Hypothyroi...	OMIM:619147
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, U...	OMIM:253220
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Supernumerary nipple, Abnormal dental enamel morphology, Inguinal hernia, Aplasia/Hypo...	ORPHA:1812
Adult Syndrome	Alopecia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic nevus, Hypoplastic...	ORPHA:978
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Neonatal death	OMIM:618835
Huntington Disease-Like 3	Spasticity, Chorea, Abnormality of extrapyramidal motor function, Dystonia, Abnormal pyramidal si...	OMIM:604802
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Distal sensory impairm...	OMIM:606693
Developmental And Epileptic Encephalopathy 82	Increased circulating lactate concentration, Spastic paraparesis, Neonatal hypotonia, Inability t...	OMIM:618721
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Neonatal death	OMIM:618839
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Myopathy, Skeletal muscle atrophy, Metabolic acidosis	ORPHA:2597
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv...	ORPHA:540
Pontocerebellar Hypoplasia, Type 9	Increased circulating lactate concentration, Spasticity, Clonus, Hypertonia, Facial hypotonia, Ma...	OMIM:615809
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Increased circulating lactate concentration, Generalized hypotonia, Hy...	OMIM:617248
Partington Syndrome	Limb dystonia, Lower limb spasticity, Camptodactyly, Focal dystonia, Flexion contracture	OMIM:309510
Combined Oxidative Phosphorylation Deficiency 5	Increased circulating lactate concentration, Generalized hypotonia, Hypotonia, Lactic acidosis, M...	OMIM:611719
Guanidinoacetate Methyltransferase Deficiency	Chorea, Hypotonia, Abnormality of extrapyramidal motor function, Dystonia, Ataxia, Progressive ex...	ORPHA:382
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis, Generalized hypotonia	OMIM:618512
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Chorea, Hypotonia, Myoclonus, Rigidity, Loss of...	OMIM:617282
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Inability to walk, Distal upper limb amyotrophy, Dystonia, Opis...	OMIM:619653
Spinocerebellar Ataxia, Autosomal Recessive 8	Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc...	OMIM:610743
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Glycerol Kinase Deficiency	Increased circulating lactate concentration, Muscular dystrophy, Ketoacidosis, Hypoglycemia, Incr...	OMIM:307030
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Lower limb muscle weakness, Cholestasis, Hypoketotic hypoglycemia, Hypotonia, Rhabd...	ORPHA:746
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating lactate concentration, Generalized hypotonia, Hypopituitarism, Generalized ...	OMIM:600462
Episodic Ataxia, Type 9	Dystonia, Episodic ataxia	OMIM:618924
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram...	ORPHA:98757
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Hepatic failure, Elevated circulating hepatic ...	OMIM:619355
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Striae distensae, Secondary amenorrhea, Thin skin	OMIM:610489
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excre...	OMIM:253010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Osteoporosis, Platyspondyly, Kyphosis	ORPHA:2786
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Poor motor coordination, Glutaric aciduria, Chorea, Abnormal circulating ...	ORPHA:25
Imerslund-Grasbeck Syndrome 1	Proteinuria, Paresthesia, Microscopic hematuria, Somatic sensory dysfunction	OMIM:261100
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Hypotonia, Lactic acidosis, Gait ataxia, Dysmetria, Tremor, ...	ORPHA:1170
D-Glyceric Aciduria	Hyperglycinuria, Spasticity, Increased circulating free fatty acid level, Chorea, Abnormal circul...	ORPHA:941
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Inability to walk, Infantile muscular hypotonia,...	ORPHA:457205
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Long penis, Skeletal muscle atr...	OMIM:246200
Hawkinsinuria	Hypotonia, Metabolic acidosis, Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylac...	ORPHA:2118
Pontocerebellar Hypoplasia, Type 14	Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619301
Wild Type Attr Amyloidosis	Nephropathy, Impaired vibratory sensation, Renal insufficiency, Elevated circulating alkaline pho...	ORPHA:330001
Ehlers-Danlos Syndrome, Periodontal Type, 1	Umbilical hernia, Atrophic scars, Inguinal hernia, Hiatus hernia, Thin skin	OMIM:130080
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased circulating lactate concentration, Generalized hypotonia, Intrauterine growth retardati...	OMIM:619051
Peroxisome Biogenesis Disorder 6B	Prolonged neonatal jaundice, Decreased liver function	OMIM:614871
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Fair hair, Umbilical hernia, Cholestasis...	OMIM:266920
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased circulating lactate concentration, Generalized hypotonia, Lactic acidosis, Splenomegaly...	OMIM:619046
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased circulating lactate concentration, Tremor, Proteinuria, Prolonged neonatal jaundice, Ja...	OMIM:274150
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Hepatic failure, Fulminant hepatitis	OMIM:308240
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Generalized hypotonia, Difficulty walking, Head titubation, Abnormal pyramidal sign, Ataxia, Dyst...	ORPHA:527497
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, R...	OMIM:617070
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Limb dystonia, Joint hypermobility, Lumbar scoliosis, Short statu...	OMIM:620269
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie...	ORPHA:182050
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Elevated c...	OMIM:617156
Autosomal Recessive Cutis Laxa Type 2A	Spasticity, Inability to walk, Postnatal growth retardation, Intrauterine growth retardation, Hyp...	ORPHA:357058
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Congenital Myopathy 22A, Classic	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Neonatal...	OMIM:620351
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased circulating lactate concentration, Hypotonia, Lactic acidosis, Myoclonus...	OMIM:614946
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dermal atrophy, Erythematous papule, Sparse lateral eyebrow	ORPHA:3406
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased circulating lactate concentration, Spastic tetraparesis, Hypotonia, Lactic acidosis, Dy...	OMIM:617668
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ge...	OMIM:608594
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Thanatophoric Dysplasia	Platyspondyly, Disproportionate short-limb short stature, Kyphosis, Hypotonia, Intrauterine growt...	ORPHA:2655
Pontocerebellar Hypoplasia, Type 2C	Dystonia, Chorea	OMIM:612390
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Hypotonia, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis	OMIM:618497
Hypocomplementemic Urticarial Vasculitis	Cerebral palsy, Renal insufficiency, Splenomegaly, Hemiplegia/hemiparesis, Hematuria, Proteinuria...	ORPHA:36412
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Pontocerebellar Hypoplasia, Type 15	Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619302
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d...	ORPHA:53583
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Chorea, Hypotonia, Myoclonus, Rigidity, Hyperkinetic movements, Opistho...	ORPHA:13
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Elevated circulatin...	ORPHA:69663
Combined Oxidative Phosphorylation Defect Type 27	Upper limb postural tremor, Involuntary movements, Increased circulating lactate concentration, T...	ORPHA:477774
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Diarrhea, Vomiting, Nausea, Jaundice, Chronic hepatic...	ORPHA:469
Mepan Syndrome	Spasticity, Hemidystonia, Chorea, Hypotonia, Myoclonus, Limb dystonia, Axial dystonia, Craniofaci...	ORPHA:508093
Episodic Kinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Paroxysmal dystonia	OMIM:128200
Aicardi-Goutieres Syndrome 7	Hepatitis, Tetraparesis, Generalized hypotonia, Intrauterine growth retardation, Hypotonia, Hepat...	OMIM:615846
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dystonia...	ORPHA:324588
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased circulating lactate concentration, Hypotonia, Lactic acidosis, Myopathy, Metabolic acid...	ORPHA:91130
Recon Progeroid Syndrome	Hirsutism, Thrombocytopenia, Anemia, Absent lower eyelashes, Thin skin	OMIM:620370
Zimmermann-Laband Syndrome 3	Flexion contracture, Kyphosis, Patent ductus arteriosus, Generalized hypotonia	OMIM:618658
Hengel-Maroofian-Schols Syndrome	Spasticity, Foot joint contracture, Inability to walk, Hypotonia, Gait imbalance, Tetraplegia, Up...	OMIM:619641
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,...	ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Lact...	OMIM:614096
Pontocerebellar Hypoplasia, Type 6	Increased circulating lactate concentration, Spasticity, Generalized hypotonia, Elbow contracture...	OMIM:611523
Amish Lethal Microcephaly	Limitation of joint mobility, Organic aciduria, Hypotonia, Metabolic acidosis, Decreased skull os...	ORPHA:99742
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Lingual dystonia, Hepatomegaly, Generalized aminoaciduria, Inability to walk, Chor...	ORPHA:404454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Leukodystrophy, Hypomyelinating, 20	Babinski sign, Hypertonia, Torticollis, Dystonia, Scoliosis, Spastic tetraplegia	OMIM:619071
Autosomal Recessive Spastic Paraplegia Type 78	Progressive spastic paraplegia, Difficulty walking, Facial myokymia, Dystonia, Progressive spasti...	ORPHA:513436
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Hypotonia, Spastic hemiparesis, Dystonia, Scoliosis, Spastic tetraplegia	OMIM:619616
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Spasticity, Increased circulating lactate concentration, Lactic acidosis, Short stature, Scoliosis	OMIM:619059
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Plantar flexion contracture, Hypotonia...	OMIM:620011
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Dermal atrophy, Generalized lipodystrophy, Nail dystrophy, Th...	ORPHA:90154
Optic Atrophy 11	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Hypo...	OMIM:617302
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Nemaline bodies, Increased circulating lactate concentration, Hypoglycemia, Umbilical hernia, Elb...	OMIM:620275
Metachromatic Leukodystrophy	Generalized hypotonia, Chorea, Hypotonia, Reduced leukocyte arylsulfatase A activity, Cholecystit...	OMIM:250100
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Neonatal hypotonia,...	OMIM:610505
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis	ORPHA:31709
Hall-Riggs Syndrome	Platyspondyly, Intrauterine growth retardation, Osteoporosis, Scoliosis, Kyphosis, Irregular vert...	OMIM:234250
Adult Syndrome	Absent nipple, Fair hair, Dermal atrophy, Breast hypoplasia, Alopecia of scalp, Sparse axillary h...	OMIM:103285
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased circulating lactate deh...	OMIM:232800
Hurler-Scheie Syndrome	Umbilical hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the...	OMIM:607015
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Gait disturbanc...	ORPHA:98759
Premature Aging Syndrome, Penttinen Type	Keloids, Dermal atrophy, Flexion contracture of finger, Joint contracture, Skin nodule, Sparse ha...	OMIM:601812
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Stage 5 chronic kidney disease, Myoclonus, Podocyte foot process effac...	OMIM:619609
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Dystonia, Spastic tetraplegia	OMIM:618646
Neonatal Lupus Erythematosus	Hepatomegaly, Abnormality of the liver, Elevated circulating hepatic transaminase concentration, ...	ORPHA:398124
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Aplasia cutis congenita, Neonatal death	OMIM:612138
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Abno...	OMIM:614381
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Poor suck	OMIM:614886
Marshall-Smith Syndrome	Generalized hirsutism, Thin skin	ORPHA:561
Wieacker-Wolff Syndrome, Female-Restricted	Spasticity, Scoliosis, Generalized hypotonia, Inability to walk, Hip contracture, Weakness of fac...	OMIM:301041
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hypotonia, Renal insufficiency, Splenomegaly, Pancreatitis, Hepatomegaly, Dystonia, Choreoathetosis	ORPHA:79312
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Thin skin, Thin eyebrow, Cafe-au-lait spot, Widow's peak, Synophrys	OMIM:617804
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Spasticity, Inability to walk, Chorea, Rigidity, Abnormality of extrapyramidal motor function, Pa...	OMIM:617672
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Generalized ...	OMIM:277410
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Hypotonia, Myoclonus, Gait ataxia, Tremor, Rigidity...	OMIM:618877
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis	ORPHA:375
Machado-Joseph Disease Type 1	Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ...	ORPHA:276241
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Reduced bone mineral density, Vertebral segmentation defect, Hypertonia, Sc...	ORPHA:2617
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Increased circulating lactate concentration, Hypotonia, Metabolic ...	ORPHA:88639
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Breast aplasia, Trichorrhexis nodosa, Aplasia/Hypoplasia of...	ORPHA:238468
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Chorea, Hypotonia, Leg dystonia, Loss of ambulation, Oculomotor apraxia, At...	OMIM:620427
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased circulating lactate concentration, Decreased liver function, Intrauterine growth retard...	OMIM:617021
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Congenital lactic acidosis, Increased circulating lactate concentration, Neonatal hypotonia, Intr...	OMIM:615824
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H...	ORPHA:186
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Leukoencephalopathy, Cystic, Without Megalencephaly	Dystonia, Spasticity, Athetosis, Ataxia	OMIM:612951
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Elbow flexion contracture, Inguinal hernia, Flexion contracture, Sparse hair, Thin skin	OMIM:614438
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Joint contracture of the hand, Elbow flexion contracture, Hypotonia, Metaboli...	OMIM:214150
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Neonatal hypotonia, Recurrent fractures, Myoclonus, Proteinuria, Delayed pube...	ORPHA:251004
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Hypotonia, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubation, Tort...	OMIM:617560
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Hand tremor, Babinski sign, Apraxia, Ataxia, Dystonia	OMIM:615889
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Mucolipidosis Type Iii Alpha/Beta	Oligosacchariduria, Umbilical hernia, Difficulty walking, Postnatal growth retardation, Keratan s...	ORPHA:423461
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Type II diabetes mellitus, Biliary tract abnormality, Short neck, Sho...	ORPHA:3191
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Thick eyebrow, Inguinal hernia, Thin skin	ORPHA:230851
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Alopecia totalis, Nail dystrophy, Aplasia/Hypoplasia of the skin, Subc...	ORPHA:1366
Perrault Syndrome 5	Increased circulating lactate concentration, Positive Romberg sign, Hypergonadotropic hypogonadis...	OMIM:616138
Rett Syndrome	Spasticity, Skeletal muscle atrophy, Gait ataxia, Gait apraxia, Short stature, Truncal ataxia, Dy...	OMIM:312750
Leukodystrophy, Hypomyelinating, 2	Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Facial palsy, At...	OMIM:608804
Primary Dystonia, Dyt6 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Craniofacial dystonia, Li...	ORPHA:98806
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Inability to walk, Hypotonia, Myoclonus, Dystonia, Clumsiness, Para...	OMIM:617854
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Thin skin	OMIM:219080
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Bone cyst	ORPHA:2668
Dysbetalipoproteinemia	Acute pancreatitis, Tendon xanthomatosis, Xanthelasma, Gout, Hepatic steatosis, Renal steatosis, ...	ORPHA:412
Alveolar Echinococcosis	Biliary cirrhosis, Vomiting, Decreased liver function, Abnormal mesentery morphology, Portal hype...	ORPHA:284
Metatropic Dysplasia	Severe short stature, Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Dispropor...	OMIM:156530
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Spasticity, Hypotonia, Myoclonus, Metabolic acidosis...	OMIM:618225
Typical Nemaline Myopathy	Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Neon...	ORPHA:171436
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Skeletal muscle atrophy, Cholestasis, Hypotonia, Hepatic steatosis, Elevated cir...	OMIM:614300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Dystonia, Hypotonia	OMIM:620359
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly...	OMIM:157640
Fucosidosis	Anterior beaking of lumbar vertebrae, Spasticity, Kyphosis, Decreased muscle mass, Abnormality of...	ORPHA:349
Kleefstra Syndrome 2	Growth delay, Generalized hypotonia, Hypotonia, Scoliosis, Kyphosis	OMIM:617768
Leukodystrophy, Hypomyelinating, 15	Severe short stature, Spasticity, Loss of ambulation, Abnormal pyramidal sign, Ataxia, Dystonia, ...	OMIM:617951
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Breast aplasia, Dermal atrophy, Abnormal eyebrow morphology, Absent eyelashes, Flexion ...	ORPHA:90153
Wolcott-Rallison Syndrome	Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepati...	ORPHA:1667
Lysinuric Protein Intolerance	Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointerstitial nephritis, Ar...	ORPHA:470
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia...	OMIM:619738
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular ...	OMIM:227646
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Camptodactyly, Hypospadias, Thin ...	OMIM:617602
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Intrauterine growth retardation, Paroxysmal dystonia, Patent ductus arteriosus, Limb hy...	OMIM:619909
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Decreased liver function, Elevated circulating aspartate aminotransferas...	OMIM:608779
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Skin ulcer, Hypopigmented skin patches, Camptodactyly of finger, Dyst...	ORPHA:2907
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis, Short stature, Kyphosis, Hypergonadot...	ORPHA:3085
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Spasticity, Joint contracture of the hand, Intrauterine growt...	OMIM:251300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Generalized muscular a...	OMIM:269700
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Difficulty walking, Prematur...	ORPHA:93314
Mucolipidosis Iii Gamma	Increased iduronate sulfatase level, Joint stiffness, Claw hand deformity, Shoulder contracture, ...	OMIM:252605
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal choreoathetosis, Paroxysmal dystonia	OMIM:602066
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased circulating lactate concentration, Babinski sign, Bradykinesia, Lacticaciduria	OMIM:619063
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Generalized limb muscle atrophy, Intrauterine growth retardation, Hypotonia, Ty...	OMIM:618891
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy...	ORPHA:77259
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal ossification involving the femoral head and neck, Abnormal bone ossification, ...	ORPHA:2114
Diastrophic Dysplasia	Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral...	ORPHA:628
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Mi...	ORPHA:47159
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ...	OMIM:262190
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Bilateral Generalized Polymicrogyria	Spasticity, Oculogyric crisis, Growth delay, Dystonia, Short stature, Eyelid myoclonus, Paroxysma...	ORPHA:208447
Papa Syndrome	Type I diabetes mellitus, Limitation of joint mobility, Proteinuria, Myositis, Arthritis	ORPHA:69126
Majeed Syndrome	Osteomyelitis, Splenomegaly, Increased susceptibility to fractures, Proteinuria, Synovitis, Glome...	ORPHA:77297
Methylmalonic Aciduria, Cbla Type	Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Elevated serum an...	OMIM:251100
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers in DNA, Renal ag...	OMIM:227650
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy, Ataxia	OMIM:275630
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Micronodular cirrho...	ORPHA:309854
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Exercise-induced myoglobinu...	ORPHA:368
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism	ORPHA:2430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Increased circulating lactate concentration, Hypoglycemia, Difficulty walking, Myoclonus,...	OMIM:620451
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, M...	ORPHA:119
Cimdag Syndrome	Spasticity, Cholelithiasis, Hypogonadism, Chorea, Hypotonia, Microvesicular hepatic steatosis, At...	OMIM:619273
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Increased circulating lactate concentration, Generalized hypotonia, Myoclonus, Chromosomal breaka...	OMIM:619060
Nail-Patella Syndrome	Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Lumbar hyperlordosis, Absence of pectoralis ...	OMIM:161200
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Hypoparathyroidism, Hypospadias, Choreoathetosis, Involuntary movements, ...	ORPHA:209905
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin...	ORPHA:2137
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased circulating lactate concentration, Hypothyroidism, Ragged-red muscle fibers, Abnormal m...	ORPHA:663
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dystonia, Babinski sign, ...	ORPHA:289560
Urban-Rogers-Meyer Syndrome	Kyphosis, Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Short neck, Short sta...	ORPHA:3409
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Inability to walk, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary ...	ORPHA:505248
Huntington Disease	Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ...	ORPHA:399
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Metabolic acidosis, Hypercalciuria, Gro...	OMIM:602722
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Increased circulating lactate concentration, Cerebral palsy, Hypotonia, Myoclonus, Li...	OMIM:619847
Frasier Syndrome	Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,...	ORPHA:347
Acquired Purpura Fulminans	Hepatic failure	ORPHA:49566
Arthrogryposis, Distal, Type 5	Firm muscles, Decreased muscle mass, Limited wrist extension, Distal arthrogryposis, Hypertonia, ...	OMIM:108145
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Generalized hypotonia, Chorea, Hyperkinetic movements, Dystoni...	OMIM:617493
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Involuntary movements, Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypo...	OMIM:615905
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Webbed neck, Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, ...	OMIM:617506
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Filippi Syndrome	Dystonia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:272440
Glut1 Deficiency Syndrome 2	Splenomegaly, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Tyrosinemia, Type Iii	Elevated circulating hepatic transaminase concentration	OMIM:276710
Desbuquois Dysplasia 1	Severe short stature, Platyspondyly, Disproportionate short-limb short stature, Generalized hypot...	OMIM:251450
Gm2 Gangliosidosis, Ab Variant	Postnatal growth retardation, Chorea, Infantile axial hypotonia, Progressive spastic quadriplegia...	ORPHA:309246
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Tip-toe gait, Hypoglycemia, Generalized hypotonia, H...	ORPHA:3008
Cadds	Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine growth retarda...	ORPHA:369942
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Mesomelic short stature, Intrauterine growth retardation, Proteinuria, Hematuria, Sh...	ORPHA:1765
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Gait disturbance, Scoliosis, Kyphosis	ORPHA:2429
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Postnatal growth retarda...	OMIM:620366
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers in DNA, Renal ag...	OMIM:600901
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Tubulointer...	ORPHA:358
Gaucher Disease	Hematuria, Cirrhosis, Ataxia, Hepatomegaly, Abnormal bone structure, Osteopenia, Cholelithiasis, ...	ORPHA:355
Ataxia With Vitamin E Deficiency	Tendon xanthomatosis, Xanthelasma, Positive Romberg sign, Hypertriglyceridemia, Dysmetria, Impair...	OMIM:277460
Bronchial Neuroendocrine Tumor	Hepatic failure, Protracted diarrhea, Bowel urgency, Anorexia, Hepatomegaly, Poor appetite	ORPHA:97287
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Limitation of joint mobility, Kyphosis, Oculomotor apraxia, Scoliosis, Congeni...	ORPHA:3454
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakness of ...	ORPHA:352447
Glass Syndrome	Long eyelashes, Inguinal hernia, Camptodactyly, Sparse hair, Thin skin	OMIM:612313
Developmental And Epileptic Encephalopathy 17	Inability to walk, Dystonia, Chorea, Athetosis	OMIM:615473
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Babinski sign, Clonus, Prolonged neonatal jaundice, Dystonia, Progressive c...	OMIM:618868
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypospadias, Joint stiffness, Hypotonia, Scoliosis, Kyphosis	ORPHA:1548
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Infantile axial...	ORPHA:225147
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Abd...	OMIM:301068
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Osteopenia, Elevated circulating hepatic transaminase concent...	OMIM:619127
Sepsis In Premature Infants	Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac...	ORPHA:90051
Schaaf-Yang Syndrome	Arthrogryposis multiplex congenita, Neonatal hypotonia, Inability to walk, Hypogonadism, Camptoda...	OMIM:615547
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Fine hair, Premature graying of hair, Nail dystrophy, Thrombocytopen...	OMIM:612199
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased circulating lactate concentration, Hypotonia, Myoclonus, Metabolic acidosis, Hypertonia	OMIM:617290
Mucopolysaccharidosis, Type Ii	Severe short stature, Kyphosis, Umbilical hernia, Heparan sulfate excretion in urine, Hepatosplen...	OMIM:309900
Mohr-Tranebjaerg Syndrome	Spasticity, Increased susceptibility to fractures, Tremor, Intrinsic hand muscle atrophy, Dystonia	OMIM:304700
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ...	OMIM:619525
Marden-Walker Syndrome	Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Decreased muscle mass, G...	OMIM:248700
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased circulating lactate concentration, Growth delay, Skeletal muscle atrophy, Hypotonia, La...	OMIM:619272
Christianson Syndrome	Decreased muscle mass, Gait ataxia, Joint hypermobility, Truncal ataxia, Dystonia, Arthrogryposis...	ORPHA:85278
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Neurogenic bladder, Joint contracture, Short stature, Dystonia, Axial hy...	OMIM:617762
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Machado-Joseph Disease Type 3	Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ...	ORPHA:276244
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico...	OMIM:619377
Srd5A3-Cdg	Elevated circulating hepatic transaminase concentration, Decreased response to growth hormone sti...	ORPHA:324737
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Increased urinary glycerol, Hypotonia, Reduced tissue fructose-1,6-bisphosphatase a...	OMIM:229700
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased circulating lactate concentration, Tetraparesis, Lactic acidosis, Axial hypotonia, Spas...	ORPHA:255182
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Abnormal form of ...	ORPHA:1354
Ck Syndrome	Generalized hypotonia, Abnormal cortical bone morphology, Joint hypermobility, Hyperlordosis, Sco...	OMIM:300831
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased circulating lactate concentration, Myoglobinuria, Renal insufficiency, Rhabdomyolysis	ORPHA:2364
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Gait ataxia, Limb muscle weakness, 3-Methylglutaconic aciduria, Increased hepatic gl...	OMIM:619259
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Inguinal hernia, Anemia, Hypopigmentation of hair, Thin skin	ORPHA:2719
Infantile Nephropathic Cystinosis	Aminoaciduria, Acidosis, Rickets, Glycosuria, Low-molecular-weight proteinuria, Abnormality of th...	ORPHA:411629
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Hepatic failure, Increased circulating lactate concentration, Chorea, Gait ataxia, Ab...	ORPHA:255210
Atypical Werner Syndrome	Premature graying of hair, Abnormal hair morphology, Sparse body hair, Generalized lipodystrophy,...	ORPHA:79474
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Hypotonia, Abnormality of extrapyramidal motor funct...	ORPHA:280219
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Increased circulating lactate dehydrogenase concent...	ORPHA:93552
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Primary Dystonia, Dyt4 Type	Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal...	ORPHA:98805
Jaberi-Elahi Syndrome	Broad-based gait, Kyphosis, Inability to walk, Hypotonia, Joint stiffness, Gait ataxia, Appendicu...	OMIM:617988
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia	OMIM:606438
De Sanctis-Cacchione Syndrome	Severe short stature, Spasticity, Babinski sign, Scissor gait, Hypertonia, Ataxia, Defective DNA ...	OMIM:278800
Pyridoxal Phosphate-Responsive Seizures	Increased circulating lactate concentration, Hypoglycemia, Myoclonus, Metabolic acidosis, Hyperto...	ORPHA:79096
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Intrauter...	OMIM:210900
Xeroderma Pigmentosum	Aminoaciduria, Alopecia, Hypopigmented skin patches, Hypogonadism, Dermal atrophy, Melanocytic ne...	ORPHA:910
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Tendon xanthomatosis, Parkinsonism, ...	ORPHA:909
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Hyperlipidemia, Proteinuria, Glomerular sclerosis, Abn...	ORPHA:439232
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Hypotonia, Hydronephrosis, Scoliosis, Patent ductus arteriosus, Hyperextensibility of t...	OMIM:619797
15Q24 Microdeletion Syndrome	Microphallus, Myelomeningocele, Postnatal growth retardation, Decreased response to growth hormon...	ORPHA:94065
Congenital Disorder Of Glycosylation, Type Ii	Generalized hypotonia, Joint hypermobility, Hepatomegaly, Hypothyroidism, Short stature, Dystonia	OMIM:607906
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting t...	ORPHA:99027
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Aplasia/Hypoplasia of ...	ORPHA:1807
D-Bifunctional Protein Deficiency	Osteopenia, Elevated circulating hepatic transaminase concentration, Neonatal hypotonia, Decrease...	OMIM:261515
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased circulating lactate concentration, Lactic acidosis, Myopathy, Generalized hypotonia	OMIM:618236
Aplasia Cutis Congenita	Aplasia cutis congenita, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital lo...	ORPHA:1114
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Sparse eyelashes, Absent eyelashes, A...	OMIM:305100
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Episodic abdominal pain...	ORPHA:100078
Congenital Disorder Of Deglycosylation 1	Action tremor, 3-Methylglutaconic aciduria, Intrinsic hand muscle atrophy, Hepatomegaly, Pain ins...	OMIM:615273
Cushing Disease	Skin ulcer, Increased urinary cortisol level, Striae distensae, Lymphopenia, Dorsocervical fat pa...	ORPHA:96253
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Geroderma Osteodysplastica	Hernia, Thin skin	ORPHA:2078
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Isolated Complex I Deficiency	Proximal tubulopathy, Hypoglycemia, Intrauterine growth retardation, Lactic acidosis, Hypotonia, ...	ORPHA:2609
Lesch-Nyhan Syndrome	Spasticity, Nephrocalcinosis, Testicular atrophy, Hypotonia, Podagra, Abnormality of extrapyramid...	OMIM:300322
Beta-Ureidopropionase Deficiency	Increased circulating lactate concentration, Neonatal hypotonia, Reduced hepatic beta-ureidopropi...	OMIM:613161
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased circulating lactate concentration, Hypogonadism, Abnormality of the thyroid gland, Limb...	OMIM:609286
Bardet-Biedl Syndrome	Chronic kidney disease, Spasticity, Type II diabetes mellitus, Hepatic steatosis, Short neck, Ata...	ORPHA:110
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Adrenal calcification, Rena...	ORPHA:289548
Continuous Spikes And Waves During Sleep	Hyperkinetic movements, Speech apraxia, Clumsiness, Dystonia	ORPHA:725
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Disproportionate short-limb short stature, Kyphosis, Bowing of limbs due to multip...	OMIM:259440
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Kyphosis, Hypotonia, Encephalocele, Joint hypermobil...	ORPHA:93274
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Hypercalciuria, Hyperchloremic acidosis, Proximal renal tubular acidosis, ...	OMIM:179830
Xp21 Deletion Syndrome	Spasticity, Ketoacidosis, Neonatal hypotonia, Decreased muscle mass, Adrenal insufficiency, Prima...	ORPHA:261476
Cockayne Syndrome A	Limitation of joint mobility, Kyphosis, Hypogonadism, Intrauterine growth retardation, Renal insu...	OMIM:216400
Zimmermann-Laband Syndrome 2	Generalized hypotonia, Hypotonia, Short neck, Short stature, Macroglossia, Kyphosis	OMIM:616455
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Postural tremor, Gait ataxia, Myoclonus, Action ...	OMIM:254900
Lichen Planopilaris	Alopecia, Skin ulcer, Hypopigmented skin patches, Hepatitis, Dermal atrophy, Papule	ORPHA:525
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Head tremor, Gait imbalance, ...	ORPHA:64753
Developmental And Epileptic Encephalopathy 51	Increased circulating lactate concentration, Skeletal muscle atrophy, Inability to walk, Hypotoni...	OMIM:617339
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Renal salt wasting, Decreas...	ORPHA:168558
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate concentration, Increased circulating lactate dehydrogenase concentr...	OMIM:619405
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	ORPHA:329284
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Myopathy, Tremor, Rhabdomyolysis, Myoglobinuria, Ataxia	ORPHA:713
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Cataplexy, Fa...	ORPHA:496641
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Generalized dystonia, Myoclonus, Vesicoureteral reflux, Knee flexion contracture, Opi...	OMIM:618076
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Folinic Acid-Responsive Seizures	Broad-based gait, Difficulty walking, Chorea, Dystonia, Hypertonia, Ataxia, Spastic tetraparesis	ORPHA:79097
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal fibrosis, Elevated cir...	OMIM:605814
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Increased intramuscular fat...	OMIM:151660
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Spasticity, Myoclonus, Facial hypotonia, Joint hypermobility, Hydronephrosis,...	ORPHA:364028
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Generalized hypotonia, Ataxia	OMIM:603585
Niemann-Pick Disease, Type C1	Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cholesterol esterification rate,...	OMIM:257220
Autosomal Recessive Spondylocostal Dysostosis	Scoliosis, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of finger, Abno...	ORPHA:2311
Leukodystrophy, Hypomyelinating, 9	Pseudobulbar paralysis, Dysmetria, Abnormality of extrapyramidal motor function, Babinski sign, L...	OMIM:616140
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Papule, Skin ulcer	ORPHA:409
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Elevated gamma-glutamyltransferase level, Abnormality of the hepatic vasculature, No...	ORPHA:247691
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Nephrocalcinosis, Hypoglycemia, Intrauterine growth retardation, Hypotonia, Kyphoscol...	OMIM:618005
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Spasticity, Generalized hypotonia, Postnatal growth retardation, Intrauterine growth ...	OMIM:300966
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Thin skin	OMIM:112250
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Increased circulating lactate concentration, Glycosuria, Exocrine pancreatic insuffic...	OMIM:616539
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Hypotonia, Dystonia, Osteopenia, Generalized hypotonia	OMIM:617268
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerate...	OMIM:609541
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated...	ORPHA:400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Myoclonus, Rigidity, Babinski sign, Gait disturbance, Urinary incontinence, Dystonia	OMIM:600795
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Increased circulating lactate concentration, Umbilical hernia, Generalized hypotonia...	OMIM:614052
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Kyphosis, Hydroxyprolinuria, Increased bone mineral density, Ankylosis, Hypotonia, El...	OMIM:239000
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Tip-toe gait, Generalized hypotonia, Gait ataxia, Cholecystitis, Dystonia, Clumsiness...	ORPHA:309256
Legionnaires Disease	Hepatitis, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Pancreatitis, Ataxia, Jaundice	ORPHA:549
Gaucher Disease Type 3	Splenomegaly, Increased susceptibility to fractures, Hematuria, Proteinuria, Gait disturbance, De...	ORPHA:77261
Arterial Tortuosity Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contra...	OMIM:208050
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Nodular Non-Suppurative Panniculitis	Splenomegaly, Aplasia/Hypoplasia of the skin, Hepatomegaly, Subcutaneous nodule, Panniculitis	ORPHA:33577
Aicardi-Goutieres Syndrome 1	Spasticity, Elevated circulating hepatic transaminase concentration, Inability to walk, Splenomeg...	OMIM:225750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Sagittal craniosynostosis, Short stature, Tubulointerstitial nephritis	OMIM:616901
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:94093
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Ren...	ORPHA:99413
Mosaic Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Ren...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Ren...	ORPHA:99226
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Turner Syndrome	Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Ren...	ORPHA:881
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration	ORPHA:159
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Elevated circulating parathyroid horm...	ORPHA:289157
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Opisthot...	OMIM:619685
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy...	OMIM:607459
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Metabolic acidosis, Pancreatitis, Hypoglycemia	OMIM:620137
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Kyphosis, Recurrent urinary tract infections, Intrau...	OMIM:609029
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hemiparesis, Hem...	OMIM:192315
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Gait disturbance, Scoliosis, Kyphosis, Ataxia	ORPHA:85317
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Short neck, Flexion contracture, Scoli...	ORPHA:178148
Galloway-Mowat Syndrome 3	Spasticity, Intrauterine growth retardation, Stage 5 chronic kidney disease, Hypotonia, Proteinur...	OMIM:617729
Cerebral Creatine Deficiency Syndrome 1	Spasticity, Broad-based gait, Poor hand-eye coordination, Neonatal hypotonia, Speech apraxia, Hyp...	OMIM:300352
De Barsy Syndrome	Umbilical hernia, Inguinal hernia, Lipodystrophy, Sparse hair, Thin skin	ORPHA:2962
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased circulating lactate concentration, Fasciculations, Axial hypotonia, Ankle clonus, Babin...	OMIM:618598
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Hyp...	OMIM:251110
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Metabolic acidosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Stuve-Wiedemann Syndrome 1	Thin skin, Elbow flexion contracture, Milia, Knee flexion contracture, Contracture of the proxima...	OMIM:601559
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability,...	OMIM:183900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Hepatic steatosis, Hematuria, Progressive spastic quadriplegia, Iso...	OMIM:619475
Pycnodysostosis	Coronal craniosynostosis, Rhizomelia, Spondylolysis, Disproportionate short-limb short stature, D...	ORPHA:763
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Spasticity, Increased circulating lactate concentration, Skel...	OMIM:616239
Adult-Onset Cervical Dystonia, Dyt23 Type	Neck muscle hypertrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial...	ORPHA:420492
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:610131
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:333
Aromatase Deficiency	Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Type II diabetes mellitus, Hyper...	ORPHA:91
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Hypo...	OMIM:604377
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Protei...	ORPHA:276621
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Generalized hypotonia, Difficulty walking, Decreased glomerular filtratio...	ORPHA:488627
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Skeletal muscle atrophy, Neonatal hypotonia, Quadriceps muscle weakness, D...	ORPHA:70
Adams-Oliver Syndrome 4	Aplasia cutis congenita, Umbilical hernia	OMIM:615297
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Generalized hypotonia, Cholecystitis, Abnormal glycosphingolipid metabolism, Dystonia...	ORPHA:309263
Metachromatic Leukodystrophy, Adult Form	Spasticity, Generalized hypotonia, Difficulty walking, Chorea, Cholecystitis, Abnormal glycosphin...	ORPHA:309271
Charcot-Marie-Tooth Disease Type 1F	Hand tremor, Decreased nerve conduction velocity, Head tremor, Cervical spinal cord atrophy, Sens...	ORPHA:101085
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch...	ORPHA:206436
Oculocerebrorenal Syndrome Of Lowe	Neonatal hypotonia, Osteomalacia, Hematuria, Clonus, Proximal renal tubular acidosis, Aminoacidur...	ORPHA:534
4Q21 Microdeletion Syndrome	Hypotonia, Intrauterine growth retardation, Tremor, Short neck, Scoliosis, Growth delay, Kyphosis	ORPHA:238750
Kearns-Sayre Syndrome	Primary adrenal insufficiency, Lactic acidosis, Renal tubular acidosis, Hypoparathyroidism, Ragge...	OMIM:530000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Early ossification of c...	OMIM:208500
Mirizzi Syndrome	Cholelithiasis, Vomiting, Abdominal colic, Elevated circulating hepatic transaminase concentratio...	ORPHA:521219
Ohdo Syndrome	Generalized hypotonia, Hypotonia, Joint hypermobility, Proteinuria, Short stature	OMIM:249620
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated circulating calcitonin concentration, Elevated urinary ...	ORPHA:29072
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hypospadias, Generalized hypotonia, Hypotonia, Epiphyseal stippling, Intrahepatic ...	OMIM:214100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Abnormality of extrapyramidal motor ...	ORPHA:79233
Infantile Neuroaxonal Dystrophy	Ataxia, Spasticity, Increased circulating lactate dehydrogenase concentration, Dystonia, Abnormal...	ORPHA:35069
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Hyperglycinemia, Lactic Acidosis, And Seizures	Increased circulating lactate concentration, Generalized hypotonia, Hypotonia, Lactic acidosis, M...	OMIM:614462
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Increased circulating lactate dehydrogenase concentration, Ac...	OMIM:268200
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myopathy, Ataxia	OMIM:300653
Ruvalcaba Syndrome	Synostosis of carpal bones, Abnormal vertebral epiphysis morphology, Intrauterine growth retardat...	ORPHA:3121
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hypotonia, Increased circulating lactate concentration, Elevated circulating hepati...	OMIM:619064
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Milia, Nail dystrophy, Enamel hypoplasia, Congenital localized absence of skin	OMIM:226700
Shigellosis	Hepatic failure, Vomiting, Tenesmus, Ulcerative colitis, Cholestasis, Acute colitis, Paralytic il...	ORPHA:810
Distal Triplication 15Q	Dilatation of the renal pelvis, Kyphosis, Horseshoe kidney, Intrauterine growth retardation, Hypo...	ORPHA:314588
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Dystonia, Hypotonia, Broad-based gait	OMIM:619157
Mitochondrial Complex I Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Tongue fasciculations, Spasticity, Hepatic failure, Hypospadias,...	OMIM:252010
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr...	ORPHA:209902
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Thymoma, Biliary cirrhosis, Aplasia/Hypoplasia of ...	ORPHA:227990
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Hypoglycemia, Hypotonia, Stage 5 chronic kidney disease, Pancreatitis, Ep...	OMIM:251000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Diarrhea, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Portal hyp...	ORPHA:79124
Cockayne Syndrome B	Severe short stature, Limitation of joint mobility, Kyphosis, Postnatal growth retardation, Intra...	OMIM:133540
Wiedemann-Rautenstrauch Syndrome	Spasticity, Increased circulating prolactin concentration, Increased serum estradiol, Type II dia...	ORPHA:3455
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Generalized hypotonia, Osteomyelitis, Impaired vibration sensation in the low...	ORPHA:88628
Triosephosphate Isomerase Deficiency	Spasticity, Cholelithiasis, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Cholecysti...	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 55	Increased circulating lactate concentration, Proximal tubulopathy, Type 2 muscle fiber predominan...	OMIM:619743
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Inability to walk, Postnatal growth retardation, Infantile axial hypotonia, Congenita...	ORPHA:300570
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Lumba...	OMIM:618882
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Branchial cyst, Glomerulomegaly, Bilatera...	ORPHA:2260
Spinocerebellar Ataxia Type 8	Ataxia, Impaired vibratory sensation, Spasticity, Limb ataxia, Gait ataxia, Rigidity, Dystonia, U...	ORPHA:98760
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Simple Cryoglobulinemia	Nephritis, Spontaneous pain sensation, Paresthesia, Renal insufficiency, Mesangial hypercellulari...	ORPHA:91139
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Argininemia	Spastic paraparesis, Portal fibrosis, Micronodular cirrhosis, Reduced erythrocyte arginase activi...	OMIM:207800
Zellweger Syndrome	Hepatic failure, Malabsorption, Feeding difficulties in infancy, Hepatomegaly, Jaundice	ORPHA:912
Arthrogryposis Multiplex Congenita 5	Arthrogryposis multiplex congenita, Hand tremor, Umbilical hernia, Generalized hypotonia, Elbow f...	OMIM:618947
Bruck Syndrome	Platyspondyly, Kyphosis, Joint stiffness, Short stature, Osteoporosis, Scoliosis, Arthrogryposis ...	ORPHA:2771
Xeroderma Pigmentosum, Complementation Group A	Spasticity, Distal sensory impairment, Ataxia, Defective DNA repair after ultraviolet radiation d...	OMIM:278700
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Proximal amyotrophy, F...	OMIM:615084
Glycogen Storage Disease X	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	OMIM:261670
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Spasticity, Cerebral palsy, Chorea, Babinski sign, Hypertonia, Dystonia, Choreoathetosis, Axial h...	OMIM:618451
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Elbow flexion contracture, Atrophic scars, Hypogonadism, Inguinal hernia, Mult...	ORPHA:536471
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Difficulty walking, Hepatosplenomegaly, Abnormal pyramidal sign,...	ORPHA:51
Amyotrophic Dystonic Paraplegia	Urinary incontinence, Spastic paraplegia, Dystonia, Skeletal muscle atrophy	OMIM:105300
Developmental And Epileptic Encephalopathy 67	Dystonia, Gait disturbance, Athetosis	OMIM:618141
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Inability to walk, Dysmetria, Oculomotor apraxia, Limb hypertonia, Ataxia, Dystonia, ...	OMIM:618087
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Joint hypermobility, Short neck, Mucopolysacchariduria, Gai...	ORPHA:582
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hepatic failure, Feeding difficulties	OMIM:619758
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Mixed respiratory and metabolic acidosis, Rhabdomyolysis, Rigidity	OMIM:145600
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Generalized hypotonia, Chorea, Hypothyroidism, Dystonia	OMIM:613970
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased circulating lactate concentration, Lower limb muscle weakness, Fasciculations, Generali...	ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 48	Hypotonia, Increased circulating lactate concentration, Lactic acidosis	OMIM:619012
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Inability to walk, Chorea, Gait ataxia, Dystonia	OMIM:618917
Congenital Enterovirus Infection	Cholestasis, Hepatic failure, Hepatitis	ORPHA:292
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Sparse eyebrow, Sparse hair, Thin skin	OMIM:244450
Holoprosencephaly	Spasticity, Abnormality of the spleen, Encephalocele, Congenital diaphragmatic hernia, Short neck...	ORPHA:2162
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis	ORPHA:139402
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Increased circulating lactate concentration, Generalized hypotonia, Lactic acidosis, ...	OMIM:615838
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Intr...	ORPHA:2075
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Neonatal hypotonia, Left ventricular noncompaction, Hypotonia, Lactic acidosis, Metabolic acidosi...	OMIM:616501
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Hydroureter, Fair hair, Ureterocele, Vesicoureteral reflux, In...	OMIM:129900
Prader-Willi Syndrome	Neonatal hypotonia, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Poor fine...	OMIM:176270
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Chronic hepatic failure, Cirrhosis, Cholangiocarcinoma, Hepato...	ORPHA:465508
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Spasticity, Inability to walk, Hypotonia, Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, A...	OMIM:618443
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Umbilical hernia, Heparan sulfate excre...	OMIM:607014
Micro Syndrome	Abnormal localization of kidney, Spasticity, Intrauterine growth retardation, Hypotonia, Joint st...	ORPHA:2510
Monosomy 13Q34	Insulin resistance, Growth delay, Hepatic steatosis, Fetal pyelectasis	ORPHA:96168
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:562639
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Severe lactic acidosis, Spasticity, Increased circulating lactate concentration, Ketonuria, Hypog...	OMIM:220111
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Postencephalitic Parkinsonism	Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Akinesia, Paresthesia, Cogwhe...	ORPHA:97349
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Reduced bone mineral density, Lim...	ORPHA:94068
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Distal amyotrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia...	OMIM:606002
Al Amyloidosis	Macroglossia, Abnormality of the liver, Renal insufficiency, Elevated circulating alkaline phosph...	ORPHA:85443
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
X-Linked Creatine Transporter Deficiency	Chorea, Hypotonia, Joint hypermobility, Hypertonia, Ataxia, Short stature, Dystonia, Athetosis	ORPHA:52503
Immunodeficiency 40	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616433
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Lipoatrophy, Nephrolithiasis	ORPHA:2833
Flynn-Aird Syndrome	Dermal atrophy, Alopecia, Alopecia of scalp	OMIM:136300
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Ablepharon Macrostomia Syndrome	Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Absent eyelashes, Abnorm...	ORPHA:920
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:2143
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Lenz-Majewski Hyperostotic Dwarfism	Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Chordee, Enamel hypoplasia,...	OMIM:151050
Liang-Wang Syndrome	Macroglossia, Dystonia, Axial hypotonia, Ataxia	OMIM:618729
Mcdonough Syndrome	Short stature, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis	ORPHA:2471
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Gastros...	ORPHA:228426
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Postn...	OMIM:616294
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Skeletal muscle atrophy, Hypotonia, Gait imbalance, Hand muscle atrophy, A...	OMIM:211530
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ...	OMIM:150400
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased circulating lactate concentration, Ragged-red muscle fibers, Gait disturbance, Ataxia, ...	ORPHA:1349
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor ...	OMIM:614298
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Metabolic acidosi...	OMIM:614723
Weismann-Netter Syndrome	Severe short stature, Horizontal sacrum, Calvarial hyperostosis, Scoliosis, Kyphosis	OMIM:112350
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Atlantoaxial ins...	OMIM:607326
Cofs Syndrome	Camptodactyly of finger, Hypogonadism, Hypotonia, Intrauterine growth retardation, Joint stiffnes...	ORPHA:1466
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Short neck, Hyperlordosis, Short stature, Hypospadias, Kyphosis, Fused...	ORPHA:2522
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Arthrogryposis multiplex congenita, Facial diplegia, Neonatal death, Babinski sign, H...	OMIM:618186
Autosomal Recessive Spastic Paraplegia Type 35	Enuresis nocturna, Spastic paraplegia, Kyphosis, Generalized dystonia, Difficulty walking, Foot d...	ORPHA:171629
Dystonia 9	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis	OMIM:601042
Arterial Tortuosity Syndrome	Hiatus hernia, Femoral hernia, Inguinal hernia, Thin skin	ORPHA:3342
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Renal hypopl...	ORPHA:2461
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Tip-toe gait, Incoordination, Abnormal circulating enzyme concentrat...	ORPHA:512
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Increased intervertebral space, Limited elbow movement, Opist...	ORPHA:508533
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Spasticity, Elbow flexion contracture, Hypotonia, Vesicoureteral re...	OMIM:300868
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Multiple joint contractures, Dentinogenesis imperfecta, Thin skin	ORPHA:536467
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Dermal atrophy, Aplasia/Hypoplasia of the skin, Skin...	ORPHA:257
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced subcutaneous adipose t...	OMIM:606721
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Broad-based gait, Difficulty walking, Hypotonia, Gait ataxia, Facial hypotonia, Dystonia	OMIM:617807
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Filippi Syndrome	Severe short stature, Spasticity, Limitation of joint mobility, Intrauterine growth retardation, ...	ORPHA:3255
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Hypoglycemia, Intrauterine growth retardation, Hypotonia, Rena...	ORPHA:79282
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Mitochondrial swelling, Decreased fumarate hydratase a...	OMIM:606812
Combined Oxidative Phosphorylation Deficiency 59	Increased circulating lactate concentration, Cholelithiasis, Dicarboxylic aciduria, Hypotonia, Ke...	OMIM:620646
Trisomy 13	Kyphosis, Abnormality of the ureter, Intrauterine growth retardation, Hypotonia, Displacement of ...	ORPHA:3378
Williams Syndrome	Synostosis of joints, Spasticity, Type II diabetes mellitus, Myopathy, Radioulnar synostosis, Ata...	ORPHA:904
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Pain insensitivity, Increased circulating lactate concentration, Generalized hypotonia, Hypotonia...	OMIM:614388
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Postnatal growth retardation, Intrauterine growth retardation, Multiple bladder dive...	ORPHA:2728
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Spasticity, Increased circulating lactate concentration, Hypocholesterolemia, Hypotonia, Neonatal...	OMIM:618810
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Proteinuria, Short stature, Tarsal synostosis	ORPHA:1307
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Abnormality of the ...	ORPHA:449395
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Spasticity, Toe extensor amyotrophy, Tip-toe gait, Fractures of the long bones, Leg d...	ORPHA:157850
Combined Oxidative Phosphorylation Deficiency 38	Increased circulating lactate concentration, Lactic acidosis, Generalized hypotonia	OMIM:618378
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level, Metabolic acidosis	OMIM:223000
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont...	OMIM:177170
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Intrauterine growth retardation, Lactic acidosis, Hypoglycemia	OMIM:618838
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Neonatal death, Hepatomegaly, Dysphagia	OMIM:608013
Isovaleric Acidemia	Hyperglycinuria, Ketoacidosis, Metabolic acidosis, Elevated urinary isovalerylglycine level, Redu...	OMIM:243500
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase con...	ORPHA:416
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Spasticity, Intrauterine growth retardation, Chorea, Limb dystonia, Short stature,...	OMIM:616339
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Unsteady gait, Scoliosis, Kyphosis, Ataxia	OMIM:300861
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Generalized hypotonia, Hypotoni...	OMIM:253270
Developmental And Epileptic Encephalopathy 86	Generalized amyotrophy, Dystonia, Generalized hypotonia	OMIM:618910
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Hypotonia, Myopathy, Weakness of facial musculature, Abnormal pyramidal sign, Episodic me...	OMIM:201470
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Breast hypoplasia, Long eyelashes, Micropenis, Camptodactyly, Flex...	OMIM:224690
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Incoordination, Abnormali...	ORPHA:261318
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypotonia, Joint hypermobility, Hypothyroidism, Hypercholesterolemia, Ataxia, Short s...	ORPHA:2479
Pontocerebellar Hypoplasia Type 2	Spasticity, Upper limb hypertonia, Infantile axial hypotonia, Paroxysmal dystonia, Babinski sign,...	ORPHA:2524
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Hypotonia, Myoclonus, Metabolic acidosis, ...	OMIM:620423
Intellectual Developmental Disorder, Autosomal Dominant 68	Hypotonia, Intrauterine growth retardation, Hepatic steatosis, Joint contracture of the 5th finge...	OMIM:619934
Cardiomyopathy, Dilated, 2C	Hypotonia, Increased circulating lactate concentration	OMIM:618189
Familial Paroxysmal Ataxia	Hemiplegia, Dystonia, Torticollis, Ataxia	ORPHA:97
Ruvalcaba Syndrome	Limited elbow extension, Delayed puberty, Short stature, Scoliosis, Kyphosis	OMIM:180870
Serotonin Syndrome	Nausea, Hepatic failure, Diarrhea	ORPHA:43116
Autosomal Dominant Spastic Paraplegia Type 9B	Focal dystonia, Elbow flexion contracture, Postural tremor, Hypotonia, Upper motor neuron dysfunc...	ORPHA:447757
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Thymoma, Biliary cirrhosis, Aplasia/Hypoplasia of ...	ORPHA:227982
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased circulating lactate concentration, Spasticity, Limb hypertonia, Axial hypotonia	OMIM:619170
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage, Spasticity, Choreoathetosis, Ataxia	OMIM:278730
Lissencephaly 7 With Cerebellar Hypoplasia	Short neck, Increased circulating lactate concentration, Arthrogryposis multiplex congenita, Neon...	OMIM:616342
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Glycosuria, Metabolic acidosis	OMIM:606824
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Paroxysmal nocturnal hemoglobinuria, Generalized hypotonia, Hypotonia, L...	OMIM:612300
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Increased circulating lactate concentration, Skeletal muscle atrop...	OMIM:222700
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Cutis marmorata telangiectatica congenita, Hypersplenism, I...	OMIM:616028
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis...	ORPHA:1545
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Cushing Syndrome Due To Ectopic Acth Secretion	Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Striae distensae, Increase...	ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 7	Increased circulating lactate concentration, Facial paralysis, Skeletal muscle atrophy, Hypotonia...	OMIM:613559
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticolli...	OMIM:609128
Dyskeratosis Congenita	Hypopigmented skin patches, White hair, Premature graying of hair, Displacement of the urethral m...	ORPHA:1775
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Severe muscular hypotonia, Femur fracture, ...	OMIM:618291
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Myopathy, Abnormality of the kidney, Hypospadias, P...	ORPHA:1606
Aymé-Gripp Syndrome	Limitation of joint mobility, Postnatal growth retardation, Congenital diaphragmatic hernia, Prot...	ORPHA:1272
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hemiplegia, Joint hypermobility, Gait disturbance, Scoliosis, Kyphosis	ORPHA:2181
Spinocerebellar Ataxia Type 6	Blepharospasm, Incoordination, Gait ataxia, Dystonia, Babinski sign, Unsteady gait, Intention tre...	ORPHA:98758
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Increased circulating lactate concentration, Ketonuria, Metabolic acidosis, Hep...	OMIM:619053
Mucolipidosis Iii Alpha/Beta	Limitation of joint mobility, Increased iduronate sulfatase level, Spondylolisthesis, Hepatomegal...	OMIM:252600
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Camurati-Engelmann Disease	Skeletal muscle atrophy, Urinary retention, Limitation of joint mobility, Craniofacial osteoscler...	ORPHA:1328
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Molluscoid pseudotumors, In...	OMIM:225400
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Exocrine panc...	OMIM:557000
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Spas...	OMIM:612949
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Increased circulating lactate concentration, Cerebral palsy, Generalized dystonia, Oroticaciduria...	OMIM:620358
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Cirrhosis, Duplicated collecting system, Hepatomegaly, Hypospadias, Patent duc...	OMIM:270400
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Congenital diaphragmatic hernia, Nail dystrophy, Aplasia cutis congenita, ...	OMIM:300887
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Reduced subcutaneous adipose tissue, Aplasia...	ORPHA:1979
Fabry Disease	Nephropathy, Acroparesthesia, Renal insufficiency, Hyperlipidemia, Hematuria, Proteinuria, Glomer...	ORPHA:324
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa...	OMIM:619573
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture...	ORPHA:93360
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Generalized hyp...	OMIM:610978
Lateral Meningocele Syndrome	Kyphosis, Decreased muscle mass, Umbilical hernia, Hypotonia, Sclerosis of skull base, Biconcave ...	OMIM:130720
Pontocerebellar Hypoplasia, Type 2B	Spasticity, Chorea, Hypotonia, Axial hypotonia, Opisthotonus, Babinski sign, Clonus, Limb hyperto...	OMIM:612389
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Necrotizing myopathy, Acute hepatic failure, Exercise-induced rhabdomyolysis...	ORPHA:423
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:235255
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve...	OMIM:619040
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529799
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Speech apraxia, Congenital diaphragm...	ORPHA:261197
Gm2-Gangliosidosis, Ab Variant	Generalized hypotonia, Chorea, GM2-ganglioside accumulation, Hypotonia, Dystonia, Paralysis, Abno...	OMIM:272750
Cornelia De Lange Syndrome 1	Renal hypoplasia, Elbow flexion contracture, Intrauterine growth retardation, Reduced renal corti...	OMIM:122470
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Alexander Disease	Precocious puberty, Osteopenia, Spasticity, Scoliosis, Chorea, Hypotonia, Tremor, Short neck, Abn...	ORPHA:58
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Increased circulating lactate concentration, Skeletal muscle atrophy, Opisthotonus, Hypertonia, A...	OMIM:616896
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Spasticity, Craniofacial osteosclerosis, Increased skull...	OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple	OMIM:615761
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Hypotonia, Paroxysmal dystonia, Hemiparesis, Limb hypertonia, Dystonia	OMIM:618004
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Scoliosis, Kyphosis	ORPHA:1858
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Abnormal circulating aldosterone, Osteomyelitis, Increased circulating renin leve...	ORPHA:171876
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Osteopenia, Platyspondyly, Pr...	OMIM:619269
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Hemiplegia/hemiparesis, Hematuria, Proteinuria, Glomerulopathy, Gait disturb...	ORPHA:183
Acute Liver Failure	Pain insensitivity, Acidosis, Acute kidney injury, Elevated circulating hepatic transaminase conc...	ORPHA:90062
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Kyphosis, Bowing of...	OMIM:259420
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Incoordination, Decreased circu...	ORPHA:64
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n...	ORPHA:226307
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Dystonia, Athetosis	OMIM:300857
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Short stature, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Decreased response to...	ORPHA:3464
Ataxia-Telangiectasia	Dysdiadochokinesis, Inability to walk, Glucose intolerance, Myoclonus, Intention tremor, Tremor, ...	OMIM:208900
Restrictive Dermopathy 1	Skin erosion, Sparse eyebrow, Short nail, Stillbirth, Sparse eyelashes, Absent eyelashes, Neonata...	OMIM:275210
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Increased circulating lactate concentration, Myelopathy, Tetraparesis, Hypot...	OMIM:617186
Methylmalonyl-Coa Epimerase Deficiency	Spasticity, Ketonuria, Methylmalonic aciduria, Metabolic acidosis	OMIM:251120
Weismann-Netter Syndrome	Severe short stature, Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Ab...	ORPHA:3344
Schwartz-Jampel Syndrome	Abnormality of the ureter, Myopathy, Hip contracture, Short neck, Spinal rigidity, Blepharospasm,...	ORPHA:800
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Generalized hypotonia, Hypotonia, Delayed patellar ossification, Joint hypermo...	OMIM:603546
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio...	OMIM:609136
Long-Olsen-Distelmaier Syndrome	Elevated circulating aspartate aminotransferase concentration, Increased circulating lactate conc...	OMIM:620609
Dystonia-Deafness Syndrome 1	Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Kyphoscoliosis, Lo...	OMIM:607371
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Exocrine p...	ORPHA:2750
Parkinsonian-Pyramidal Syndrome	Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ...	ORPHA:171695
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Shor...	ORPHA:3098
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Hereditary Methemoglobinemia	Spasticity, Limb dystonia, Hypertonia, Athetosis, Spastic tetraplegia	ORPHA:621
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Arm dystonia, Difficulty walking, Speech apraxia, Abnormal circulating enzyme c...	ORPHA:79244
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Scoliosis, Kyphosis, Horseshoe kidne...	OMIM:301111
3C Syndrome	Postnatal growth retardation, Hypotonia, Hydronephrosis, Short neck, Adrenal hypoplasia, Hemivert...	ORPHA:7
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Intractable diarrhea, Cholestasis, Splenomegaly, Cirrhosis, He...	OMIM:222470
Frank-Ter Haar Syndrome	Kyphosis, Camptodactyly of finger, Umbilical hernia, Joint stiffness, Beaking of vertebral bodies...	ORPHA:137834
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Abdominal distent...	ORPHA:1655
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Dystonia, Hypotonia, Spasticity, Urinary urgency	OMIM:619286
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Neonatal hypotonia, Chorea, Hemiparesis, Hypothyroidism, Dystonia	OMIM:618829
Niemann-Pick Disease Type C	Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi...	ORPHA:646
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Thin skin, Umbilical hernia, Inguinal hernia, Bladder diverticulum, Sy...	ORPHA:536545
Mucopolysaccharidosis Type 6	Joint stiffness, Splenomegaly, Short neck, Mucopolysacchariduria, Disproportionate short-trunk sh...	ORPHA:583
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen...	OMIM:151800
Combined Oxidative Phosphorylation Deficiency 35	Dystonia, Spasticity, Generalized hypotonia	OMIM:617873
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Reduced circulating ar...	OMIM:608643
Monosomy 18P	Generalized dystonia, Hypotonia, Kyphoscoliosis, Short neck, Hypothyroidism, Short stature	ORPHA:1598
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:90324
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hypotonia, Joint hypermobility, Hydronep...	OMIM:620511
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Hydronephrosis, Short stature, Craniosynostosis, Dystonia, Growth delay, Pate...	ORPHA:457193
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased circulating lactate concentration, Generalized dystonia, Chorea, Gait ataxia, Myoclonus...	OMIM:618321
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment	OMIM:193700
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod...	ORPHA:2916
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Proteinuria, Ar...	ORPHA:829
Koolen-De Vries Syndrome	Hypotonia, Vesicoureteral reflux, Renal duplication, Joint hypermobility, Hydronephrosis, Vertebr...	ORPHA:96169
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Giant Cell Arteritis	Abdominal pain, Hepatic failure, Gastrointestinal infarctions, Anorexia	ORPHA:397
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A...	ORPHA:79330
3M Syndrome	Intrauterine growth retardation, Increased vertebral height, Joint hypermobility, Short neck, Hyp...	ORPHA:2616
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Achondroplasia	Thoracolumbar kyphosis, Rhizomelia, Disproportionate short stature, Hip joint hypermobility, Cerv...	ORPHA:15
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Growth delay, Renal agenesis, Umbilical hernia, Postnatal growth retardation, Hypoton...	OMIM:301040
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Camptodactyly of finger, Elbow flexion contracture, Intraute...	OMIM:610758
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Rhizomelic arm s...	OMIM:223800
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita of scalp, Skin erosion, Abnormality of the urethra, Ureterocele, Atrophic...	ORPHA:158684
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Sparse eyebrow, Alopecia, Long penis, Alopecia of scalp, Absence of subcutaneous fat...	OMIM:264090
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis, Diabetes mellitus	OMIM:209010
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Myoclonus, Appendicular spasticity, Neurogenic bladder, Dystonia, Scoliosis, Axial hypotonia	OMIM:617669
Gabriele-De Vries Syndrome	Tip-toe gait, Intrauterine growth retardation, Hypotonia, Ureteropelvic junction obstruction, Tre...	OMIM:617557
Methanol Poisoning	Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus, Metabolic acidosis	ORPHA:31825
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Dermal atrophy, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Ap...	ORPHA:1787
Tarp Syndrome	Hepatic failure, Neonatal death	OMIM:311900
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Slc39A8-Cdg	Osteopenia, Disproportionate short-limb short stature, Inability to walk, Elbow flexion contractu...	ORPHA:468699
Werner Syndrome	Abnormal hair whorl, Chondrocalcinosis, Skin ulcer, Premature graying of hair, Hypogonadism, Whit...	ORPHA:902
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, High anterior hairline, Enlarged kidney, Thin skin	OMIM:615873
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Osteopenia, Central hypothyroidism, Neonatal hypotonia...	ORPHA:398069
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Recurrent pancreatitis...	ORPHA:444490
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Synostosis of carpal bones, Moderate postnatal growth retardation, Joint st...	ORPHA:1005
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, L...	OMIM:615418
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperaldosteronism, Metabolic acidosis, Pseudohypoaldosteronism, Renal salt wasting, Hyperactive ...	OMIM:264350
Koolen-De Vries Syndrome	Kyphosis, Recurrent urinary tract infections, Generalized hypotonia, Intrauterine growth retardat...	OMIM:610443
Even-Plus Syndrome	Highly arched eyebrow, Renal hypoplasia, Vesicoureteral reflux, Aplasia cutis congenita, Sparse h...	OMIM:616854
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Scoliosis, Generalized hypotonia, Hypogonadism, Camptodactyly of fi...	ORPHA:261349
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Increased susceptibility to fr...	ORPHA:216866
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Short neck, Spina bifida occulta, Hypoplasia of penis, Reduced bone mineral density...	ORPHA:2983
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Hypogonadism, Tremor, Joint hypermobility, Short neck,...	ORPHA:85293
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Osteopenia, Small hypothenar eminence, Absence ...	ORPHA:2232
Congenital Disorder Of Glycosylation, Type Il	Hypocholesterolemia, Hypotonia, Splenomegaly, Short neck, Hepatomegaly, Polycystic kidney dysplas...	OMIM:608776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur...	OMIM:612925
Mitochondrial Dna Depletion Syndrome 19	Increased circulating lactate concentration, Spasticity, Tetraparesis, Generalized hypotonia, Myo...	OMIM:618972
Thanatophoric Dysplasia Type 1	Platyspondyly, Kyphosis, Lethal short-limbed short stature, Joint stiffness, Hypotonia, Abnormal ...	ORPHA:1860
Ogden Syndrome	Scoliosis, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Hypot...	OMIM:300855
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Stillbirth, Hepatomegaly	OMIM:259720
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Myoclonus, Neurogenic bladder, Vocal cord paralysis, Dystonia, Scoliosis, Axial hypot...	ORPHA:500144
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:244242
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Hypotonia, Intrauterine growth retardation, Join...	ORPHA:2050
Dystonia 26, Myoclonic	Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia	OMIM:616398
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Inability to walk, Horseshoe kidney, Hypotonia, Penile hypospadias, Joint hypermobili...	OMIM:620083
Harrod Syndrome	Hypospadias, Multicystic kidney dysplasia, Intrauterine growth retardation, Joint hypermobility, ...	ORPHA:2115
Myoclonic Epilepsy Of Lafora 1	Hepatic failure	OMIM:254780
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Elevated circulating hepatic transaminase concentration, A...	ORPHA:36426
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par...	ORPHA:456312
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, L...	ORPHA:93958
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid...	ORPHA:508
Diaphanospondylodysostosis	Webbed neck, Horseshoe kidney, Inguinal hernia, Enlarged kidney, Cystic renal dysplasia, Abnormal...	OMIM:608022
Combined Oxidative Phosphorylation Deficiency 57	Hypotonia, Myoclonus, Neonatal death, Central diabetes insipidus, Nephrogenic diabetes insipidus,...	OMIM:620167
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Generalized hypotonia, Limb hypertonia, Dystonia, Scoliosis, Laryngotracheomalacia, Axial hypotonia	OMIM:616875
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Chédiak-Higashi Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:167
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Dystonia, Paresthesia, Episodic ataxia	OMIM:108500
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:537
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria, Ragged-red muscle fibers	OMIM:550500
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Osteopenia, Elevated circulating hepatic transaminase concentration, Neonat...	OMIM:614231
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Oculomotor apraxia, Abnormal pyramidal sign, Tetraplegia, Hyperchol...	OMIM:616267
Necrotizing Enterocolitis	Acidosis, Increased circulating lactate concentration, Hyperglycemia, Abnormal glucose homeostasi...	ORPHA:391673
Cholera	Acidosis, Acute kidney injury, Hypoglycemia, Lactic acidosis, Decreased urine output, Abnormality...	ORPHA:173
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Scoliosis, Generalized hypotonia, Pheochromocytoma...	OMIM:162300
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Choreoacanthocytosis	Resting tremor, Muscle fiber atrophy, Limb dystonia, Myopathy, Loss of ambulation, Parkinsonism, ...	ORPHA:2388
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom...	ORPHA:93126
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Adams-Oliver Syndrome	Alopecia, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Aplasia/Hypoplasia of the...	ORPHA:974
Mucolipidosis Type Ii	Limitation of joint mobility, Kyphosis, Umbilical hernia, Inability to walk, Postnatal growth ret...	ORPHA:576
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Short stature, Scoliosis, Kyphosis	ORPHA:1883
Niemann-Pick Disease, Type C2	Spasticity, Cataplexy, Hypotonia, Splenomegaly, Hepatomegaly, Low cholesterol esterification rate...	OMIM:607625
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dysto...	ORPHA:306682
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Growth delay, Tremor, Axial hypotonia, Oculomotor apraxia, Ataxia,...	OMIM:612716
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:340
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Renal insuff...	OMIM:188400
Dystonia-Aphonia Syndrome	Generalized dystonia, Myoclonus, Gait disturbance, Abnormal urinary odor, Oromandibular dystonia,...	ORPHA:412217
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Hepatic failure	ORPHA:46059
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Dermal atrophy, Abnormality of the lymphatic system, Absent eyelashes...	ORPHA:69735
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:300894
Pelger-Huet Anomaly	Umbilical hernia, Foot dorsiflexor weakness, Mild short stature, Kyphosis, Lower limb hypertonia	OMIM:169400
Alzheimer Disease 3	Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxia, Gait d...	OMIM:607822
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria, Decreased pineal volume	OMIM:301108
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Proteinuria, Non-acidotic proximal tubulopathy...	OMIM:222448
Partington Syndrome	Gait disturbance, Limb dystonia, Lower limb spasticity	ORPHA:94083
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Neonatal hypotonia, Hypogonadism, Hypotonia, Gait disturbance, Micropenis, Short stature, Flexion...	ORPHA:500055
Japanese Encephalitis	Pill-rolling tremor, Skeletal muscle atrophy, Elbow flexion contracture, Stiff neck, Cogwheel rig...	ORPHA:79139
Hypermobile Ehlers-Danlos Syndrome	Menometrorrhagia, Atypical scarring of skin, Umbilical hernia, Striae distensae, Cystocele, Decre...	ORPHA:285
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Gait disturbance, Osteoporosis, Vertebral compression fracture, Kyphosis	ORPHA:85193
Posttransplant Acute Limbic Encephalitis	Dystonia, Myoclonus, Ataxia	ORPHA:163921
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Lower limb muscle weakness, Inability to walk, Hemiplegia, Congenital hypothyroid...	OMIM:616973
Poland Syndrome	Hypospadias, Renal hypoplasia, Ureterocele, Abnormality of the liver, Vesicoureteral reflux, Ence...	ORPHA:2911
Chromosome 3Q13.31 Deletion Syndrome	Micropenis, Hypotonia, Kyphosis	OMIM:615433
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Metabolic acidosis	OMIM:619445
Familial Hypoaldosteronism	Adrenal insufficiency, Metabolic acidosis, Decreased urinary potassium, Decreased circulating ald...	ORPHA:427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612926
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hypoto...	ORPHA:192
Scorpion Envenomation	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Glycosuria, Keton...	ORPHA:466677
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly ...	ORPHA:2215
Ablepharon-Macrostomia Syndrome	Absent eyelashes, Ventral hernia, Hypoplastic nipples, Absent eyebrow, Micropenis, Omphalocele, C...	OMIM:200110
Developmental And Epileptic Encephalopathy 84	Spasticity, Generalized hypotonia, Chorea, Opisthotonus, Babinski sign, Dystonia, Axial hypotonia	OMIM:618792
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Acute hepatic failure, Splenomegaly, Proteinuria, Low back pain, P...	ORPHA:342
Martin-Probst Syndrome	Umbilical hernia, Renal insufficiency, Proteinuria, Chordee, Hypothyroidism, Micropenis, Short st...	OMIM:300519
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Ost...	ORPHA:90291
Fountain Syndrome	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral b...	ORPHA:3219
Idiopathic Camptocormia	Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Parkinsonism, Fatty ...	ORPHA:1320
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Hyperechogenic kidneys, Proteinuria, Moderate proteinuria, Hemoly...	OMIM:301110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612924
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Generalized hypotonia, Inability to walk, Elbow flexion contracture, Hip contracture, Short statu...	OMIM:618493
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Ankle flexion contracture, Kyphosis, Intrauterine growth retardation, ...	ORPHA:464311
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dilatation of the renal pelvis, Kyphosis, Dysmetria, Knee flexion contracture, Head titubation, A...	OMIM:619708
Dysostosis, Stanescu Type	Kyphosis, Massively thickened long bone cortices, Short neck, Hyperlordosis, Short stature, Macro...	ORPHA:1798
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Camptodactyly of finger, Hypotonia, Bicoronal synostosis, Vesicoureter...	OMIM:619951
Alkaptonuria	Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D...	OMIM:203500
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Intellectual Developmental Disorder, Autosomal Dominant 43	Hypotonia, Dystonia, Umbilical hernia, Ataxia	OMIM:616977
Choreoacanthocytosis	Skeletal muscle atrophy, Limb muscle weakness, Parkinsonism, Self-mutilation of tongue and lips d...	OMIM:200150
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Tremor, Rigidity, Abnormality of extr...	OMIM:234200
Aspartylglucosaminuria	Platyspondyly, Spasticity, Spondylolysis, Generalized hypotonia, Pathologic fracture, Hypotonia, ...	OMIM:208400
Hajdu-Cheney Syndrome	Osteopenia, Coarse metaphyseal trabecularization, Kyphosis, Umbilical hernia, Osteolysis, Hypopla...	ORPHA:955
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the urinary system, Abnormality of the vertebral co...	ORPHA:280
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Hypotonia, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Patent ductus...	ORPHA:86818
Rasmussen Subacute Encephalitis	Inability to walk, Involuntary movements, Hemidystonia, Hemiparesis	ORPHA:1929
Developmental And Epileptic Encephalopathy 89	Spasticity, Tetraparesis, Neonatal death, Hyperkinetic movements, Hypertonia, Dystonia, Scoliosis...	OMIM:619124
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Dystrophic toenail, Skin ulcer, Dystrophic fingernails	ORPHA:1657
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Joint hypermobility, Hypogonadotropic hypogonadism, Delayed pub...	OMIM:619718
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Kyphosis, Hypotonia, Tremor, Scapular winging, Scoliosis, Patent ductus arter...	OMIM:617061
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Generalized hypotonia, Hypotonia, Lactic acidosis, Splenomegaly,...	OMIM:616084
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Spastic tetraplegia, Hypotonia, Neonatal death, Hypertonia, Short stat...	OMIM:620024
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat...	OMIM:127550
Rett Syndrome, Congenital Variant	Spasticity, Neonatal hypotonia, Generalized hypotonia, Chorea, Apraxia, Dystonia, Athetosis, Scol...	OMIM:613454
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intrauterine growth retardation, Hepatic steatosis, Hypoplasia of the ovary, Mi...	OMIM:619321
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykine...	OMIM:168600
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168605
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Increased circulating lactate concentration, Increased variability ...	ORPHA:70595
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Hypotonia, Loss of ambulation, Proteinuria, Unsteady gait, Scoliosis, Reduced...	OMIM:616682
Agel Amyloidosis	Stage 5 chronic kidney disease, Proteinuria, Abnormal spleen morphology, Ataxia, Facial palsy	ORPHA:85448
Multiple Pterygium Syndrome, Escobar Variant	Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Umbilical hernia, Dysp...	OMIM:265000
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism, Parkinsonism with fav...	ORPHA:411602
Pontocerebellar Hypoplasia, Type 2A	Congenital contracture, Chorea, Opisthotonus, Dystonia, Extrapyramidal dyskinesia	OMIM:277470
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Butterfly vertebrae, Congenital diaphragmatic hernia, Renal hypo...	ORPHA:958
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Spasticity, Dilatation of the renal pelvis, Cholestasis...	OMIM:619534
Ethylene Glycol Poisoning	Elevated serum anion gap, Lactic acidosis, Myoclonus, Renal insufficiency, Renal tubular dysfunct...	ORPHA:31826
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Pathologic fracture, Hyperoxaluria, Renal insufficiency, Metabolic acidosis, He...	OMIM:259900
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Chromosome 18P Deletion Syndrome	Hypotonia, Short neck, Micropenis, Hypomimic face, Short stature, Dystonia	OMIM:146390
Zttk Syndrome	Unilateral renal agenesis, Spasticity, Kyphosis, Neonatal hypotonia, Horseshoe kidney, Intrauteri...	OMIM:617140
Bacterial Toxic-Shock Syndrome	Increased circulating lactate concentration, Hepatitis, Recurrent urinary tract infections, Osteo...	ORPHA:36234
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Hypotonia, Facial palsy, Scoliosis, ...	OMIM:617143
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short stature, Hypoplasia of penis, Kyphosis, Short neck	ORPHA:3082
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice, Hemoglobinuria	OMIM:194380
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Increased circulating lactate dehydrogenase concentr...	ORPHA:447
Paganini-Miozzo Syndrome	Urinary incontinence, Increased circulating lactate concentration, Elevated lactate:pyruvate ratio	OMIM:301025
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Hypotonia, Abnormality of extrapyramidal motor function, Rigidi...	ORPHA:521426
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Weaver Syndrome	Spasticity, Joint contracture of the hand, Kyphosis, Umbilical hernia, Generalized hypotonia, Hyp...	OMIM:277590
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Metabolic acidosis, Decreased circulating renin level, H...	OMIM:613677
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Hypotonia, Macroglossia, Scoliosis, Kyphosis	ORPHA:261144
Oculocerebrocutaneous Syndrome	Preauricular skin tag, Alopecia, Hypopigmented skin patches, Skin tags, Congenital diaphragmatic ...	ORPHA:1647
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Spasticity, Short neck, Ataxia, Spastic tetraplegia, Precocious puberty, Tip-toe gait, Cerebral p...	OMIM:619950
Osteogenesis Imperfecta	Tetraparesis, Enlarged vertebral pedicles, Decreased skull ossification, Loss of ambulation, Atax...	ORPHA:666
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ...	ORPHA:77293
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Proteinuria, Pancreat...	OMIM:619471
Mosaic Trisomy 9	Webbed neck, Camptodactyly of finger, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asp...	ORPHA:99776
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Chorea, Lumbar hyperlordosis, Joint hypermobility, Hyperkinetic movements, Progres...	ORPHA:522077
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypotonia, Scoliosis, Kyphosis	OMIM:300676
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Hepatic failure, Micronodular cirrhosis	OMIM:301072
Cocaine Intoxication	Involuntary movements, Acute kidney injury, Increased circulating lactate dehydrogenase concentra...	ORPHA:90068
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Kyphosis, Intrauterine growth retardation, Multiple joint contractures...	ORPHA:464306
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Kyphosis, Decreased muscle mass, Inability to walk, Recurrent fractures, M...	ORPHA:3063
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased circulating lactate concentration, Stage 5 chronic kidney disease, Lactic acidosis, Lac...	OMIM:618250
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ...	ORPHA:199351
Microphthalmia, Lenz Type	Hydroureter, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis, Hyperlordosis, Sh...	ORPHA:568
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dermal atrophy, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss o...	OMIM:608612
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Mosaic Trisomy 20	Spinal canal stenosis, Horseshoe kidney, Hypotonia, Intrauterine growth retardation, Vertebral se...	ORPHA:1724
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Thoracolum...	OMIM:619503
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Osteopetrosis With Renal Tubular Acidosis	Tetraparesis, Abnormal circulating enzyme concentration or activity, Distal renal tubular acidosi...	ORPHA:2785
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, Hypertonia...	OMIM:610217
Osteogenesis Imperfecta, Type Iv	Kyphosis, Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Bicon...	OMIM:166220
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Marbach-Schaaf Neurodevelopmental Syndrome	Enuresis nocturna, Hemidystonia, Neonatal hypotonia, Speech apraxia, Tremor, Torticollis	OMIM:619680
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Warburg-Cinotti Syndrome	Ankle flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Flexion contract...	OMIM:618175
Legius Syndrome	Male urethral meatus stenosis, Xanthelasma, Hypotonia, Nephroblastoma, Nephrolithiasis, Short sta...	ORPHA:137605
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Disproportionate short-limb short stature, Kyphosis, Decreased skull o...	OMIM:610915
Addison Disease	Thymoma, Type I diabetes mellitus, Hypoglycemia, Androgen insufficiency, Adrenal calcification, I...	ORPHA:85138
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine level	OMIM:171420
Loeys-Dietz Syndrome	Striae distensae, Atypical scarring of skin, Camptodactyly of finger, Thin skin	ORPHA:60030
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Neonatal hypotonia, Synostosis of the proximal phalanx of the thumb with the 1st metaca...	OMIM:300967
Exercise-Induced Malignant Hyperthermia	Nausea, Hepatic failure, Vomiting, Decreased liver function	ORPHA:466650
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal hypotonia, Impaired pain sensation, Intrauterine growth retardation, Micropenis, Hepatom...	OMIM:619005
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Umbilical hernia, Hypotonia, Impaired temperature sensation, Joint hypermobility, Kyp...	ORPHA:536532
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis, Hypertonia	ORPHA:79155
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Platyspondyly, Rhizomelia, Disproportionate short stature, Lumbar hyperlord...	OMIM:616482
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased circulating lactate concentration, Akinesia, Lower limb spasticity, Abnormal pyramidal ...	OMIM:618249
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Leg muscle stiffness, Tremor...	OMIM:615530
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Stickler Syndrome, Type I	Platyspondyly, Joint stiffness, Spondylolisthesis, Joint hypermobility, Morbus Scheuermann, Beaki...	OMIM:108300
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Der...	ORPHA:3322
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Cholelithiasis, Male urethral meatus stenosis, Difficulty walking, Inability to walk,...	ORPHA:464738
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating growth horm...	ORPHA:79318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Increased circulating prolactin concentration, Abnormality of the anterior pitu...	ORPHA:438213
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Pseudohypoaldosteronism, Hyperchloremic acidosis	OMIM:145260
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Congenital hypothyroidism, Hypotonia, Rigidity, Abnormality of ...	OMIM:617527
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Kyphosis, Axial hypotonia	OMIM:603387
Leber Optic Atrophy	Dystonia, Postural tremor, Myopathy, Ataxia	OMIM:535000
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Rhizomelia, Disproportionate short-limb short stature, Kyp...	OMIM:618019
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia	ORPHA:683
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Skin erosion, Alopecia totalis, Neonatal death, Aplasia cutis congenita	OMIM:609638
Koolen-De Vries Syndrome Due To A Point Mutation	Neonatal hypotonia, Speech apraxia, Postnatal growth retardation, Hand muscle atrophy, Hypospadia...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Neonatal hypotonia, Speech apraxia, Postnatal growth retardation, Hand muscle atrophy, Hypospadia...	ORPHA:363958
Clark-Baraitser syndrome	Scoliosis, Kyphosis, Joint hypermobility	OMIM:300602
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Abnormal penis morphology, Scoliosis, Limitation of joint mobility, Cranial...	ORPHA:2658
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy	ORPHA:64755
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Protu...	OMIM:218330
Vici Syndrome	Acidosis, Postnatal growth retardation, Hypotonia, Penile hypospadias, Myopathy, Left ventricular...	OMIM:242840
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Hypotonia, Increased susceptibility to ...	OMIM:259770
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Severe muscular hypotonia, Exaggerated startle response, Facial hypoton...	ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 15	Increased circulating lactate concentration, Incoordination, Hypotonia, Tremor, Abnormal pyramida...	OMIM:614947
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Hypotonia, Jo...	ORPHA:2789
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury	OMIM:618886
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the...	ORPHA:171929
Sarcoidosis	Abnormal lymph node morphology, Hepatomegaly, Skin plaque, Subcutaneous nodule, Tubulointerstitia...	ORPHA:797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Renal salt wasting, Neonatal hypoglycemia, Abnormal circulating dehydroepia...	ORPHA:90794
Brachyolmia Type 3	Platyspondyly, Childhood-onset short-trunk short stature, Short neck, Scoliosis, Kyphosis	OMIM:113500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Generalized hypotonia, Joint hypermobility, Bladder diverticulum, Hyperlordosis, Scoliosis, Kypho...	OMIM:617821
Coenzyme Q10 Deficiency, Primary, 2	Increased circulating lactate concentration, Elevated lactate:pyruvate ratio	OMIM:614651
Kufor-Rakeb Syndrome	Blepharospasm, Urinary incontinence, Oculogyric crisis, Leg muscle stiffness, Difficulty walking,...	ORPHA:306674
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Nevus, Camptodactyly of finger, Umbilical hernia, Hypogonadism, Inguinal hernia, Low...	ORPHA:2990
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Hypogonadism, Hip contracture, Myopathy, Posteri...	ORPHA:3042
Developmental And Epileptic Encephalopathy 38	Dystonia, Limb hypertonia, Axial hypotonia, Ataxia	OMIM:617020
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Metabolic acidosis, Diabetic ketoacidosis	ORPHA:70578
Orofaciodigital Syndrome I	Hepatic fibrosis, Myelomeningocele, Hepatic cysts, Proteinuria, Short stature, Pancreatic cysts, ...	OMIM:311200
Smith-Lemli-Opitz Syndrome	Hypospadias, Rhizomelia, Multicystic kidney dysplasia, Abnormal localization of kidney, Kyphosis,...	ORPHA:818
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Generalized dystonia, Los...	ORPHA:329308
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Hydroureter, Disproportionate short-limb short stature, Bilateral rena...	OMIM:619194
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Hypotonia, Dystonia, Poor gross motor coordination	ORPHA:439218
Curry-Jones Syndrome	Generalized hirsutism, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1553
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperaldosteronism, Metabolic acidosis, Pseudohypoaldosteronism, Hyperactive renin-angiotensin sy...	OMIM:177735
Campomelic Dysplasia	Kyphosis, Tracheomalacia, Hydronephrosis, Short neck, Poorly ossified cervical vertebrae, Short s...	ORPHA:140
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria	ORPHA:1018
Alternating Hemiplegia Of Childhood	Episodic hemiplegia, Tetraparesis, Chorea, Hypotonia, Tremor, Rigidity, Abnormal pyramidal sign, ...	ORPHA:2131
Vascular Ehlers-Danlos Syndrome	Alopecia, Cigarette-paper scars, Umbilical hernia, Melanocytic nevus, Cystocele, Inguinal hernia,...	ORPHA:286
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypotonia...	ORPHA:506358
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Diarrhea, Increased circulating lactate dehydrogenase concentration, Melena, Nau...	ORPHA:99827
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria, Metabolic acidosis	OMIM:620152
Mgat2-Cdg	Osteopenia, Kyphosis, Generalized hypotonia, Hypotonia, Abnormality of the endocrine system, Redu...	ORPHA:79329
Intellectual Developmental Disorder, Autosomal Dominant 73	Premature adrenarche, Spasticity, Hydroureter, Tip-toe gait, Hypotonia, Lumbar hyperlordosis, Lim...	OMIM:620450
Combined Oxidative Phosphorylation Deficiency 29	Increased circulating lactate concentration, Dystonia, Spasticity, Generalized hypotonia	OMIM:616811
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Decreased response to growth hormone stimulation test, Contracture of the proximal inte...	OMIM:618223
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Prolonged neonatal jaundice, Jaundice, Hemoglobinuria, Splenomegaly	OMIM:300908
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Myoclonus, Microvesicular hepatic steatosis, Tetrapl...	OMIM:618278
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Hydranencephaly, Hepatic sinusoidal dilatation, Tracheomalacia, Inability to walk, Hy...	OMIM:620371
Mercury Poisoning	Dystonia, Acute kidney injury, Tremor	ORPHA:330021
Poikiloderma With Neutropenia	Sparse eyebrow, Sparse lateral eyebrow, Dermal atrophy, Leukopenia, Nail dystrophy, Splenomegaly,...	OMIM:604173
Cohen Syndrome	Hypotonia, Intrauterine growth retardation, Joint hypermobility, Delayed puberty, Short stature, ...	ORPHA:193
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Spasticity, Neonatal hypotonia, Inability to walk, Limb dystonia, Limb hypertonia, Infantile musc...	ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, Generalized hypotonia, Joint hypermobility, Contracture of the proximal interphalan...	OMIM:618050
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Spasticity, Hypotonia, Hydronephrosis, Scoliosis, Kyphosis	OMIM:616449
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Platyspondyly, Rickets, Hepatitis, Kyphosis, Recurrent urinary ...	ORPHA:198
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Septic arthritis, Anuria, Hemiparesis, Decreased urine output, Pan...	ORPHA:544482
Atelis Syndrome 2	Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysme...	OMIM:620185
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Hypoplastic pilosebaceous units, Sparse eyelashes, Hypoplastic...	OMIM:601345
Granulomatosis With Polyangiitis	Ureteral stenosis, Hemiplegia, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydro...	ORPHA:900
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypotonia, Intrauterine growth retardation, Scapular winging, Craniosynostosis, Kyphosis, Hyperex...	OMIM:616914
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyphosis, Umbilical hernia, Hypoton...	OMIM:602535
Relapsing Polychondritis	Limitation of joint mobility, Hepatitis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopa...	ORPHA:728
Blepharonasofacial Malformation Syndrome	Torsion dystonia, Joint hypermobility	ORPHA:1252
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Spondyloperipheral Dysplasia	Platyspondyly, Rhizomelic arm shortening, Limited elbow extension, Rhizomelic leg shortening, Sho...	OMIM:271700
Progressive Non-Infectious Anterior Vertebral Fusion	Kyphosis, Abnormality of the vertebral column, Abdominal situs inversus, Joint stiffness, Hemiver...	ORPHA:2062
Cowden Syndrome 5	Thyroid adenoma, Kyphosis, Goiter, Hypothyroidism, Hyperthyroidism, Scoliosis, Intention tremor, ...	OMIM:615108
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Limitation of joint mobility, Difficulty walking, Hypotonia, Lumbar hyperlordosis, Gait ataxia, F...	ORPHA:457359
Arboleda-Tham Syndrome	Neonatal hypotonia, Recurrent urinary tract infections, Generalized hypotonia, Intrauterine growt...	OMIM:616268
Cowden Syndrome	Abnormal penis morphology, Ataxia, Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid ...	ORPHA:201
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Metabolic acidosis, Increased circulating renin level	OMIM:620126
Young-Onset Parkinson Disease	Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia	ORPHA:2828
Noonan Syndrome 14	Hypotonia, Limited elbow extension, Short neck, Scapular winging, Short stature, Kyphosis	OMIM:619745
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Vesicoureteral reflux, Short neck, Camptodactyly, Micropenis, Short stature, Scoliosis,...	OMIM:616894
Early Infantile Epileptic Encephalopathy	Precocious puberty, Spasticity, Ureterocele, Renal dysplasia, Episodic ataxia, Umbilical hernia, ...	ORPHA:1934
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Metabolic acidosis, Increased circulating renin level	OMIM:620125
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Back pain, Abnormal urinary color	ORPHA:90035
Holt-Oram Syndrome	Joint stiffness, Radioulnar synostosis, Patent ductus arteriosus, Scoliosis, Kyphosis	ORPHA:392
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Broad-based gait, Dilatation of the renal pelvis, Kyphosis, Recurrent ...	ORPHA:268261
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio...	OMIM:248370
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Dystonia, Spastic tetraparesis	ORPHA:404451
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Falls, Difficulty walking, Hypotonia, Ankle clonus, ...	OMIM:618222
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Growth delay, Hypotonia, Bilateral camptodactyly, Short stature, Scoliosis, Kyphosis	OMIM:619557
Immunoglobulin A Vasculitis	Renal insufficiency, Hemiplegia/hemiparesis, Hematuria, Proteinuria, Glomerulopathy, Arthritis	ORPHA:761
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Kyphosis, Joint stiffness, Hemiplegia/he...	ORPHA:394
Cowden Syndrome 6	Thyroid adenoma, Kyphosis, Goiter, Hypothyroidism, Hyperthyroidism, Scoliosis, Intention tremor, ...	OMIM:615109
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short stature, Scoliosis, Kyphosis	ORPHA:261190
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Precocious puberty, Abnormal form of the vertebral bodies, Decreas...	OMIM:194190
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Diarrhea 10, Protein-Losing Enteropathy Type	Elevated circulating thyroid-stimulating hormone concentration, Metabolic acidosis, Hypothyroidis...	OMIM:618183
Lymphatic Filariasis	Urethral obstruction, Hematuria, Proteinuria, Knee osteoarthritis, Glomerulonephritis, Abnormalit...	ORPHA:2035
Hermansky-Pudlak Syndrome 10	Generalized hypotonia, Splenomegaly, Hepatomegaly, Dystonia, Axial hypotonia	OMIM:617050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Rhizomelia, Camptodactyly of finger, Lumbar hyperlordosis, Decreased hip abduction, Intervertebra...	OMIM:143095
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Eec Syndrome	Sparse eyebrow, Coarse hair, Nevus, Fine hair, Abnormal dental enamel morphology, Thick eyebrow, ...	ORPHA:1896
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Tremor, Urinary incontinence, Scoliosis, Kyphosis	ORPHA:476126
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Kyphosis, Increased circulating prolactin concentration, Hypopituitarism, Elev...	OMIM:300942
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremic me...	OMIM:614492
Imerslund-Gräsbeck Syndrome	Proteinuria, Hypotonia	ORPHA:35858
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Postinfectious Vasculitis	Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis, Arthritis, ...	ORPHA:48435
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency	ORPHA:556
Semilobar Holoprosencephaly	Spasticity, Scoliosis, Central hypothyroidism, Inability to walk, Abnormal central motor function...	ORPHA:220386
Alobar Holoprosencephaly	Spasticity, Scoliosis, Central hypothyroidism, Inability to walk, Abnormal central motor function...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Scoliosis, Central hypothyroidism, Inability to walk, Abnormal central motor function...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Scoliosis, Central hypothyroidism, Inability to walk, Abnormal central motor function...	ORPHA:93924
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
2Q31.1 Microdeletion Syndrome	Kyphosis, Camptodactyly of finger, Hypotonia, Vertebral segmentation defect, Short neck, Short st...	ORPHA:251014
Desmosterolosis	Aplasia/Hypoplasia of the skin, Dermal atrophy, Splenomegaly	ORPHA:35107
Acquired Methemoglobinemia	Acidosis	ORPHA:464453
Pierson Syndrome	Skeletal muscle atrophy, Hyperechogenic kidneys, Hypotonia, Stage 5 chronic kidney disease, Prote...	OMIM:609049
Sotos Syndrome	Abnormal vertebral morphology, Hip contracture, Abnormality of the kidney, Neonatal hypoglycemia,...	ORPHA:821
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hypotonia, Renal insuff...	OMIM:614748
Wagro Syndrome	Proteinuria, Nephroblastoma	OMIM:612469
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Hypotonia, Scoliosis, Kyphosis	ORPHA:404440
Sudden Cardiac Failure, Infantile	Hypotonia, Metabolic acidosis	OMIM:617222
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Reduced circulating pyrimidine 5-prime-nucleotidase activity	OMIM:266120
Frank-Ter Haar Syndrome	Osteopenia, Cortical irregularity, Hypotonia, Anterior concavity of thoracic vertebrae, Kyphoscol...	OMIM:249420
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Peritonit...	ORPHA:90038
Pheochromocytoma	Proteinuria, Pheochromocytoma, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Cowden Syndrome 1	Thyroid adenoma, Kyphosis, Goiter, Hypothyroidism, Hyperthyroidism, Scoliosis, Intention tremor, ...	OMIM:158350
Mitochondrial Phosphate Carrier Deficiency	Hypotonia, Lactic acidosis, Metabolic acidosis	OMIM:610773
Cerebrocostomandibular Syndrome	Hydranencephaly, Multicystic kidney dysplasia, Tracheomalacia, Myelomeningocele, Intrauterine gro...	ORPHA:1393
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Hawkinsinuria	Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Metabolic acidosis	OMIM:140350
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Kyphosis, Umbilical hernia, Postnatal growth retardation, Intraute...	OMIM:135900
Lafora Disease	Hepatic failure, Nasogastric tube feeding	ORPHA:501
Barber-Say Syndrome	Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Aplasia/Hypoplasia of the skin...	ORPHA:1231
Rothmund-Thomson Syndrome	Sparse eyebrow, Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Sparse eyel...	ORPHA:2909
Congenital Short Bowel Syndrome	Steatorrhea, Metabolic acidosis	OMIM:615237
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Dystonia, Spasticity	OMIM:607236
Dysosteosclerosis	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin	ORPHA:1782
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Increased circulating lactate concentration, Limb hypertonia, Axial hypotonia	OMIM:620306
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hypotonia, Renal tubular acidosis, Metabolic acidosis, Joint hypermobility, Short stature	OMIM:619575
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating aspartate aminotransfer...	ORPHA:99829
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis, Hyperextensibility of the finger joints	OMIM:609008
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Abnormality of the thyroid gland, Short stature, Scoliosis, Kyphosis	ORPHA:1969
Acute Radiation Syndrome	Skin ulcer, Dermal atrophy, Lymphopenia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence, Involuntary movements, Paroxysmal dystonia	ORPHA:98784
Kawasaki Disease	Sterile pyuria, Hepatitis, Cholecystitis, Proteinuria, Arthritis, Jaundice	ORPHA:2331
Renal Nutcracker Syndrome	Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Elevated circulating parathyroid hormone level, Kyphosis, Abnorma...	ORPHA:97685
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Primrose Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Hypotonia, Glucose intolerance, Reduced bone mineral ...	OMIM:259050
Acromegaly	Long penis, Kyphosis, Cerebral palsy, Pituitary prolactin cell adenoma, Pituitary growth hormone ...	ORPHA:963
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Tremor, Parkinsonism, Hy...	ORPHA:1578
Occipital Horn Syndrome	Platyspondyly, Ureteral obstruction, Limited elbow extension, Joint hypermobility, Hydronephrosis...	OMIM:304150
Neurofibromatosis Type 1	Precocious puberty, Osteopenia, Kyphosis, Pheochromocytoma, Paresthesia, Joint stiffness, Abnorma...	ORPHA:636
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis,...	ORPHA:774
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased circulating lactate concentration, Skeletal muscle atrophy, Generalized hypotonia, Meta...	OMIM:618252
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology	ORPHA:2290
Monosomy 9Q22.3	Abnormality of the vertebral column, Umbilical hernia, Hypotonia, Nephroblastoma, Joint hypermobi...	ORPHA:77301
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Atrophic scars, Milia, Nail dystrophy, Scarring, Aplasia cutis congenita, Aplasia cutis...	ORPHA:79396
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re...	ORPHA:91500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skin erosion, Nevus, Milia, Aplasia cutis congenita, Anemia, Flexion c...	ORPHA:89842
Cono-Spondylar Dysplasia	Hypotonia, Short neck, Poor coordination, Scoliosis, Kyphosis	ORPHA:420794
Colchicine Poisoning	Oliguria, Lactic acidosis, Renal insufficiency, Metabolic acidosis, Abnormality of acid-base home...	ORPHA:31824
Combined Oxidative Phosphorylation Defect Type 29	Increased circulating lactate concentration, Poor coordination, Myoclonic spasms, Abnormal muscle...	ORPHA:478029
Somatomammotropinoma	Pituitary adenoma, Kyphosis, Cerebral palsy, Increased circulating prolactin concentration, Pitui...	ORPHA:314769
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials	ORPHA:401973
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Disproportionate short-limb short stature, Synostosis of carpal bon...	ORPHA:1507
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa...	OMIM:601104
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Camptodactyly of finger, Abnormal dental enamel morphology, Milia, Neo...	ORPHA:2908
Cardiogenic Shock	Hepatomegaly, Increased circulating lactate concentration, Oliguria, Metabolic acidosis	ORPHA:97292
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance	OMIM:617903
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Cutis Marmorata Telangiectatica Congenita	Skin erosion, Multicystic kidney dysplasia, Displacement of the urethral meatus, Aplasia/Hypoplas...	ORPHA:1556
Mend Syndrome	Sacral dimple, Hypotonia, Crossed fused renal ectopia, Hypertonia, Short stature, Kyphosis, Axial...	OMIM:300960
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Alopecia, Premature graying of hair, Horseshoe kidney, Dermal atroph...	OMIM:305000
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Hypogonadism, Dermal atrop...	OMIM:268400
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Hyperchloremic metabolic acidosis, Metabolic acidosis	OMIM:614496
Lipoid Proteinosis	Dystonia	ORPHA:530
Systemic Lupus Erythematosus	Chorea, Hematuria, Proteinuria, Lupus nephritis, Arthritis, Pyuria	ORPHA:536
Stickler Syndrome	Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno...	ORPHA:828
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Rectourethral fistula, Sagittal craniosyno...	OMIM:603116
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Nail dystrophy, Hematuria, Urethral stricture, Hydrone...	ORPHA:79403
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Skin erosion, Multicystic kidney dysplasia, Ureterocele, Hydroureter, Urinary retention...	ORPHA:79404
Supranuclear Palsy, Progressive, 2	Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dystonia, Rigidity, Parkinso...	OMIM:609454
Meckel Syndrome	Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C...	ORPHA:564
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Aplasia/Hypoplasia of the skin, Hypospadias...	ORPHA:3339
Feingold Syndrome 1	Accessory spleen, Asplenia, Annular pancreas, Polysplenia	OMIM:164280
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Increased susceptibility to fractures, Spondyloli...	OMIM:119600
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hypotonia, Gait ataxia, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis	OMIM:617011
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Hypotonia, Kyphosis	OMIM:619244
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Abnormal dental enamel morphology, Dermal atrophy, Alopecia totalis, Sparse or a...	ORPHA:221008
Subacute Cutaneous Lupus Erythematosus	Dermal atrophy, Annular cutaneous lesion	ORPHA:163525
Heterotaxy, Visceral, 1, X-Linked	Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia	OMIM:306955
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Asplenia, Bile duct pro...	OMIM:249000
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Hypotonia, Spondylolisthesis, Limited elbow movement, Joint ...	ORPHA:558
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypopigmented skin patches, Abnormal dental enamel morphology, Dermal ...	ORPHA:2556
Wrinkly Skin Syndrome	Osteopenia, Hypoplasia of the musculature, Umbilical hernia, Hypotonia, Intrauterine growth retar...	OMIM:278250
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Increased sus...	ORPHA:2769
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Abdominal situs inversus, Sparse body hair, Dermal atrophy, Sparse eyel...	ORPHA:2108
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Sparse pubic hair, Renal hypoplasia, Fine hair, Breast aplasia, Pyelon...	OMIM:181270
Shprintzen Omphalocele Syndrome	Generalized hypotonia, Hypotonia, Lumbar hyperlordosis, Short stature, Scoliosis, Kyphosis	OMIM:182210
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Neoplasm of the thymus, Chorea, Myoclonus, Rigidity, Op...	ORPHA:217253
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Orofaciodigital Syndrome Iii	Myoclonus, Kyphosis	OMIM:258850
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Renal artery stenosis, Hyperlipidemia, Hepatic ...	ORPHA:391665
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Abnormality of alkaline phosphatase level, Lum...	OMIM:300106
Dermatomyositis	Cellulitis, Alopecia, Chondrocalcinosis, Elevated circulating hepatic transaminase concentration,...	ORPHA:221
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Abnormal vertebral morphology, Platyspondyly, Hydroureter, Abnormality of t...	ORPHA:2273
Branchiooculofacial Syndrome	Renal agenesis, Fusion of middle ear ossicles, Elbow flexion contracture, Postnatal growth retard...	OMIM:113620
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Kyphosis, Sacroiliac arthritis, Oligoarthritis, Enthesitis, Back pain	OMIM:106300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Foot joint contracture, Urinary bladder sphincter dysfunction, Atrophic s...	ORPHA:79408
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Difficulty walking, Hypotonia, Urinary incontinence, Scoliosis, Kyphosis	OMIM:619482
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Broad-based gait, Umbilical hernia, Hypotonia, Joint hypermobility, Hydroneph...	OMIM:620330
Proteus Syndrome	Long penis, Thymus hyperplasia, Kyphosis, Decreased muscle mass, Cranial hyperostosis, Neoplasm o...	ORPHA:744
Kindler Syndrome	Diffuse skin atrophy, Dermal atrophy, Phimosis, Spotty hypopigmentation, Urethral stenosis	OMIM:173650
Barber-Say Syndrome	Sparse eyebrow, Absent nipple, Hypertrichosis, Dermal atrophy, Low anterior hairline, Sparse eyel...	OMIM:209885
Oculoectodermal Syndrome	Preauricular skin tag, Supernumerary nipple, Epidermal nevus, Aplasia cutis congenita, Bladder ex...	OMIM:600268
Pseudoaminopterin Syndrome	Asplenia	ORPHA:221120
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Chordee, Micropenis, Hypospadias, Asymmetric, linear skin defects	OMIM:309801
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Elevated circulating hepati...	ORPHA:95455
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Kyphosis	OMIM:609944
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Tarsal synostosis, Hypospadias, Kyphosis	ORPHA:85199
Focal Dermal Hypoplasia	Focal dermal aplasia/hypoplasia, Umbilical hernia, Supernumerary nipple, Dermal atrophy, Horsesho...	OMIM:305600
Restrictive Dermopathy	Webbed neck, Skin erosion, Sparse eyebrow, Short nail, Hypospadias, Camptodactyly of finger, Derm...	ORPHA:1662
Viss Syndrome	Kyphosis, Umbilical hernia, Hypotonia, Butterfly vertebrae, Right ventricular hypertrophy, Contra...	OMIM:619472
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Ramon Syndrome	Short stature, Scoliosis, Juvenile rheumatoid arthritis, Kyphosis	OMIM:266270
Coffin-Lowry Syndrome	Hypotonia, Lumbar kyphosis, Short stature, Scoliosis, Kyphosis, Hyperextensibility of the finger ...	OMIM:303600
Tetraamelia Syndrome 1	Asplenia	OMIM:273395
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Facial paralysis, Tetraparesis, Hemiplegia, Limb dystonia, Hemiparesis, Babinski sign...	OMIM:175780
Yunis-Varon Syndrome	Growth delay, Kyphosis, Intrauterine growth retardation, Hypotonia, Anterior concavity of thoraci...	OMIM:216340
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level	ORPHA:261552

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 Ercc1

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 Ercc1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Fanconi anemia DNA crosslink repair factors protect against LINE-1 retrotransposition during mouse development.	Nature structural & molecular biology (August 2023)	Ercc1^{tm1a(KOMP)Wtsi}	37580626
XPF-ERCC1 protects liver, kidney and blood homeostasis outside the canonical excision repair pathways.	PLoS genetics (April 2020)	Ercc1^{tm1a(KOMP)Wtsi}	PMC7144963
DNA cross-link repair safeguards genomic stability during premeiotic germ cell development.	Nature genetics (July 2019)	Ercc1^{tm1a(KOMP)Wtsi} Ercc1^{tm1a(KOMP)Wtsi} Ercc1^{tm1d(KOMP)Wtsi}	31367016

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ercc1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ercc1^{tm48301(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ercc1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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