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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 (2101 diseases)

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

Disease	Matching phenotypes	Source
Cockayne Syndrome Type 2	Lower limb spasticity, Hepatomegaly, Axial hypotonia, Ataxia, Kyphosis, Flexion contracture, Male...	ORPHA:90322
Cofs Syndrome	Short stature, Camptodactyly of finger, Short neck, Joint stiffness, Hypotonia, Hypertonia, Hypog...	ORPHA:1466
Cerebrooculofacioskeletal Syndrome 4	Short stature, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture, Knee flexion c...	OMIM:610758

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

Disease	Matching phenotypes	Source
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Ceroid storage disease	Hepatic failure	OMIM:214200
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration	OMIM:620364
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c...	OMIM:605911
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s...	OMIM:616829
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Short stature, Abnormality of the kidney...	ORPHA:369
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver...	ORPHA:570422
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati...	OMIM:618549
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Increased level of methylsuccinic acid in urine, Metabolic acidosis, Myopat...	ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyceridem...	OMIM:610717
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Axial hypotonia, Increased urine succinate level, Elevated circulating aspartate am...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 30	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616974
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Kyphosis, Inability to walk, Spastic paraplegia, ...	OMIM:611225
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Elevat...	OMIM:235555
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, 3-Methylglutacon...	ORPHA:67046
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa...	OMIM:616278
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Decreased liver function	OMIM:614870
Sandhoff Disease, Adult Form	Reduced beta-hexosaminidase activity, Tremor, Focal dystonia, Upper limb muscle weakness, Proxima...	ORPHA:309169
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Hepatic cysts	OMIM:600666
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Intrauterine growth retardation, Proteinuria	OMIM:189800
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,...	OMIM:619386
Spastic Paraplegia-Nephritis-Deafness Syndrome	Severe short stature, Proteinuria, Paraplegia, Gait disturbance, Nephropathy, Spasticity	ORPHA:2820
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Short stature, Fatty replacement of skelet...	ORPHA:171706
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Distal amyotrophy, Gait disturbance, Impaired distal tactile sensa...	OMIM:618400
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Hepatic failure, Dysphagia	ORPHA:2724
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Copper...	OMIM:616828
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Increa...	OMIM:615158
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Growth delay, Spasticity	OMIM:278780
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Metabolic aci...	OMIM:611555
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy, Dystonia, Increased serum lactate, Hypotonia, Growth delay, Scoliosis, G...	OMIM:618244
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Kyphosis, Flexion contracture, Spastic tetraplegia, Metabolic acidosis, ...	OMIM:618237
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure	ORPHA:75234
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa...	ORPHA:79083
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Mody	Abnormality of the kidney, Transient neonatal diabetes mellitus, Nephropathy, Insulin-resistant d...	ORPHA:552
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipod...	ORPHA:2348
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Hypoglycemia, Postnatal gro...	ORPHA:453533
Hemidystonia-Hemiatrophy Syndrome	Limb dystonia, Rhizomelic leg shortening, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dy...	ORPHA:306741
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Short stature, Babinski sign, Cogwheel rigidity, Growth delay, Hypertonia, Dystonia, Spastic gait	OMIM:618284
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance, ...	ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Increased serum lactate, Kyphosis, Osteoporosis, Hypotonia, Lactic acidosis, Myopat...	OMIM:618234
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Lower limb spasticity, Diabetes mellitus, Increased serum lactate, Babinski sign, Impaired vibrat...	ORPHA:320360
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:232700
Spastic Paraplegia 26, Autosomal Recessive	Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Spasti...	OMIM:609195
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Elevated alkaline phosphatase of bone origin, ...	OMIM:167320
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Proteinuria, Hyperlordosis, Tremor, Limitation of joint mobility, Nephrotic syndro...	ORPHA:1192
Dystonia 30	Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia, Loss o...	OMIM:619291
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties	OMIM:246900
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur...	ORPHA:289504
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Ab...	ORPHA:275555
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated gamma-glutamylt...	OMIM:614480
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension	OMIM:617068
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity	OMIM:619687
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Vomiting, Decreased liver function	OMIM:602199
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Metabolic ketoacidosis, Tremor, Hyperin...	ORPHA:263455
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Lower limb spasticity, Diaphragmatic eventration, Hypoplasia of pe...	ORPHA:66634
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Spastic paraplegia, Difficulty walking, Dystonia, Laryngeal dystonia, Lower limb muscle weakness	OMIM:619681
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Vomiting	ORPHA:158
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Acute rhabdomyolysis, Camptodactyly of finger, Hypogonadotropic hypogonadism, Atax...	ORPHA:48431
Ddost-Cdg	Elevated hepatic transaminase, Osteopenia, Short stature, Nephrotic range proteinuria, Tremor, Or...	ORPHA:300536
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Increased serum lactate, Hypothyroidism, Abno...	ORPHA:445038
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hypotonia, Hepatic necrosis, Hypoglycemic seizu...	OMIM:231530
Fanconi-Bickel Syndrome	Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulati...	ORPHA:2088
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Short stature, Atax...	OMIM:616756
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, In...	ORPHA:52430
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia	OMIM:128101
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lower limb spasticity, Episodic ataxia, Ataxia...	OMIM:614458
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Episodic vomiting, Decreased liver function, Poor suck	OMIM:615160
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Lactic acidosis, Hepatic fibrosis, Fast...	ORPHA:264580
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Generalized dystonia, Ataxia, Increased se...	ORPHA:70472
Galloway-Mowat Syndrome 2, X-Linked	Short stature, Proteinuria, Minimal change glomerulonephritis, Hypotonia, Stage 5 chronic kidney ...	OMIM:301006
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Secretory diarrhea, Vomiting	OMIM:620357
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ...	ORPHA:71212
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia...	OMIM:607317
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy...	OMIM:608709
3-Methylglutaconic Aciduria, Type V	Diaphragmatic eventration, Hypospadias, Elevated circulating aspartate aminotransferase concentra...	OMIM:610198
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Ataxia, Babinski sign, Spastic diplegia, Lactic acidosis, Myoclonus, Increased int...	OMIM:619065
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Myopathy, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Oculogyric crisis, Tremor, Inability to walk, Increased serum lactate, S...	ORPHA:330050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Hepatocellular carcinoma, Microvesicular hepatic ...	OMIM:256810
Ornithine Transcarbamylase Deficiency	Hepatic failure	ORPHA:664
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Hyperlordosis, Osteoporosis, Hypotonia, Metabolic acido...	ORPHA:408
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Facial palsy, Increased serum lactate, Ragged-red muscle fibers, Proximal muscle w...	OMIM:616209
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Thin skin	ORPHA:2500
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd...	OMIM:613630
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Choreoathetosis, Lactic acidosis, Aplasia of the left hemidiaphragm, Adrenal...	OMIM:618238
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Intrauterine growth retardation, Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:251280
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Increased serum lactate, Elevated cir...	OMIM:617872
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Clonus, Opisthotonus, Spastic...	OMIM:205100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Ketotic hypoglycemia, Hepatocellular carcinoma, Limb-girdle muscle weakn...	ORPHA:79240
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Prote...	OMIM:620010
Fanconi-Bickel Syndrome	Chronic acidosis, Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Acidosis, Hepat...	OMIM:227810
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P...	OMIM:262400
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Aicardi-Goutieres Syndrome 9	Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Portal...	OMIM:619487
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Short stature, Ataxia, Increased serum lactate, Stress/infection...	OMIM:252011
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Jaundice, Biliary cirrhosis, Choles...	OMIM:617394
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Increased serum lactate, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Metabolic ac...	OMIM:203740
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy	ORPHA:254857
Dermoodontodysplasia	Thin skin, Trichodysplasia	OMIM:125640
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Feeding difficulties, Elevated cir...	OMIM:613489
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Impaired vibration sensation i...	ORPHA:251282
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Increased serum lactate, Hypoton...	OMIM:618239
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe...	OMIM:613404
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Ataxia, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall muscula...	ORPHA:834
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Elevated lactate:pyruvate ratio, Axial hypotonia, Increa...	OMIM:609060
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Parkinsonism, Craniofacial dystonia	ORPHA:370103
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Dystonia, Short stature, Ataxia, Kyphosis, Slurred speech, Decreased bet...	OMIM:230650
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated urinary 3-hydroxyb...	ORPHA:42
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Joint laxity, Hypoglycemia, Elevated circulating aspartate aminotra...	OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Hypoglycemia, Postnatal growth retardation, Increased serum lact...	OMIM:616111
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si...	OMIM:264470
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c...	OMIM:230400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Short stature,...	OMIM:616026
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Thin skin, Hernia	ORPHA:75497
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Unsteady gait, Hypotonia, Ankle clonus, Hypertonia, Steppage gait, Dystonia...	OMIM:617054
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Tremor, Increased serum lactate, Flexion contracture, Hypotonia, Opisthotonus...	OMIM:616271
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Scapular winging, Hip contracture, Broad-based gait, Spinal...	OMIM:615290
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Vomiting, Acute hepatic failure	OMIM:616483
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Caudate ...	ORPHA:52368
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate, Weakness of facial musculature, Increased intramyocellular lipid droplet...	OMIM:619062
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Autosomal Recessive Spastic Paraplegia Type 56	Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait	ORPHA:320411
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate, Ataxia, Abnormal pyramidal sign, Dystonia	OMIM:619196
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Proteinuria, H...	OMIM:232200
Sialidosis Type 2	Hepatomegaly, Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Splenomegaly, Kyphosis, Fle...	ORPHA:87876
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Urinary urgency, Progressive cerebell...	ORPHA:314603
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	OMIM:614582
3-Methylglutaconic Aciduria Type 4	Decreased liver function	ORPHA:67048
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Short stature, Increased serum lactate, Ragged-red muscl...	ORPHA:457050
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Increased serum lactate, Chorea, Ragged-red musc...	OMIM:500003
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impaired vibration sensa...	OMIM:607565
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure	OMIM:616719
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Ataxia, Inability to walk, Hypotonia, Tongue fasciculations, Type 1 musc...	OMIM:618276
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary go...	ORPHA:436182
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Xeroderma Pigmentosum, Complementation Group F	Short stature, Ataxia, Tremor, Flexion contracture, Defective DNA repair after ultraviolet radiat...	OMIM:278760
Cystinosis	Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Nephrogenic diabetes insipi...	ORPHA:213
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Dystonia, Spastic paraplegia, Gait disturbance, Leg muscle stiffness	OMIM:108600
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Severe muscular hypotonia, Increased serum lactate, Renal hypo...	OMIM:614922
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Short stature, Hypoth...	OMIM:619013
Dystonia With Cerebellar Atrophy	Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia	OMIM:611694
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal si...	ORPHA:436271
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto...	OMIM:617284
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Short stature, Absent pubertal growth spur...	ORPHA:464282
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Infantile axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scis...	ORPHA:521406
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Abnormal pyramidal sign, Metabolic acidosis, Abnormality of extrapyramidal ...	OMIM:618224
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Axial hypotonia, Spastic tetraparesis, Increased serum lactate, Hy...	OMIM:616299
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:619658
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia	OMIM:615030
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short st...	OMIM:256550
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Calf muscle h...	ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Increased serum lactate, Hypotonia, Truncal...	OMIM:220110
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Hypotonia, Proxim...	OMIM:617404
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Hyperglycinuria, Metabolic ...	OMIM:201450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio...	OMIM:261680
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Dystonia, Ataxia, Increased serum lactate, Ragged-red muscle fibers, Rhabdomyolysis, Choreoatheto...	OMIM:618416
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, D...	OMIM:614455
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Kyphosis, I...	OMIM:615381
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short neck, Increased serum lactate, M...	OMIM:618958
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Axial hypotonia, Short stature, Dystonia, Kyphoscoliosis, Abnormality of...	ORPHA:59
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Hypotonia, Renal cortical cysts, General...	OMIM:231680
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Skeletal muscle atrophy, Axial hypotonia, Hypoglycemia, Elevated...	OMIM:245400
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 21	Axial hypotonia, Increased serum lactate, Neonatal death, Hepatic steatosis, Limb hypertonia	OMIM:615918
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Thin skin, Trichodysplasia, Sparse body hair	ORPHA:1660
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Elevate...	ORPHA:131
Combined Oxidative Phosphorylation Deficiency 44	Increased serum lactate, Slurred speech, Generalized hypotonia	OMIM:618855
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Lactic a...	ORPHA:17
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Increased serum lactate, Nephrotic syndrome, Neonatal hypotonia, Decreased level of ...	OMIM:614652
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria	ORPHA:2613
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr...	ORPHA:75496
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Increased serum lactate, Inability to walk, Ragged-red muscle fibers, At...	OMIM:615159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Tremor, Chorea, Generalized hypotonia, Hepatic steatosis, Waddling gait, Hepatomegaly, Short stat...	OMIM:615356
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle...	OMIM:124000
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Chronic diarrhea, Periportal fibrosis, E...	OMIM:619484
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Thin skin	ORPHA:1899
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Dystonia, Spas...	OMIM:619966
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Hyperlordosis, Chorea, Truncal ataxia...	ORPHA:369840
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Clonus, Premature thelarche, Gait ataxia, Lactic acidosis, Generalized hypotonia, Hypothyroidism,...	OMIM:616878
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Kyphosis, Spastic para...	OMIM:614409
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Difficulty walking, Sensory ataxia, Dystonia	OMIM:619661
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Short stature, Proteinuria, Osteomalacia, Recurrent fractures, R...	OMIM:613388
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Insulin resistance, Type II diabetes mellitus, Hypercholesterolemia, Hepati...	OMIM:615703
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Decreased liver function	OMIM:614883
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Hypotonia, Limb dystonia, Intrauterine growth retardation	OMIM:620270
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Diabetes mellitus, Lower limb muscle weakness, Hyp...	OMIM:615980
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Ataxia, Clonus, Increased serum lactate, Hypotonia, Tetraplegia, Choreoathetosis,...	OMIM:616034
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Abnormalit...	ORPHA:101006
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyceridemia, Splenomegaly, Insulin resis...	OMIM:612526
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Axial hypotonia, Ataxia, Hypoglycemia, Tremor, Increased serum lactate, ...	OMIM:617710
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis, Aminoaciduria, Muscular dystrophy, Acidosis	OMIM:204730
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Nephrotic Syndrome, Type 17	Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Axial hypotonia, Hypoglycemia, Increased serum lactate, Unsteady gait, Metabolic acidosis, Hypert...	OMIM:610090
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Axial hypotonia, Ataxia, Increased serum lacta...	OMIM:619224
Hypotonia-Cystinuria Syndrome	Axial hypotonia, Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormo...	OMIM:606407
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Ataxia, Tremor, Ragged-red ...	OMIM:607426
Cednik Syndrome	Short stature, Ataxia, Proteinuria, Nephrotic syndrome, Hypogonadism	ORPHA:66631
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Adrenomyodystrophy	Short stature, Megacystis, Hypotonia, Primary adrenal insufficiency, Reduced bone mineral density...	ORPHA:977
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia, Increased serum lactate, Hypotonia, Lactic acidosis, Organic aciduria...	OMIM:614741
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Increased serum lactate, Dysmetria, Gait ataxia, Myopathy, Progres...	ORPHA:254881
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:617049
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, A...	ORPHA:2394
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Clonus, Chorea, Upper-limb joint contracture, Opis...	ORPHA:300605
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Short...	OMIM:203800
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Thin skin, Striae distensae	OMIM:225310
Tenorio Syndrome	Osteopenia, Joint laxity, Cerebral palsy, Hypoglycemia, Hypotonia, Clumsiness, Macroglossia, Enur...	OMIM:616260
Dent Disease 2	Short stature, Elevated circulating aspartate aminotransferase concentration, Chronic kidney dise...	OMIM:300555
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd...	OMIM:618049
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Axial hypotonia, Ataxia, Tremor, Increased serum lactate, Abnorm...	OMIM:612016
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Stiff neck, Kyphoscoliosis, Increased serum lactate, Lactic acidosis, Tetraparesi...	OMIM:618230
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Joint laxity, Diabetes mellitus, Hyp...	ORPHA:541423
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop...	OMIM:600501
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Axial hypotonia, Generalized dystonia, Ataxia, Sulfite oxidase deficiency, Incr...	OMIM:272300
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Hsd10 Disease, Neonatal Type	Abnormal circulating enzyme concentration or activity, Metabolic acidosis, Lactic acidosis, Abnor...	ORPHA:391457
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine...	ORPHA:98810
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ...	ORPHA:137898
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Increased ...	OMIM:617950
Familial Cervical Artery Dissection	Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin	OMIM:259410
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Wilson Disease	Acute hepatic failure, Hepatocellular carcinoma, Tremor, Osteoarthritis, Hand tremor, Aminoacidur...	OMIM:277900
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythematous plaque, Dermal atrophy, Thin skin, Dystrophic fingernails, Milia, Dystrophic toenail	ORPHA:158673
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Inability to walk,...	OMIM:166300
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl...	ORPHA:567983
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia, Clonus, Increased serum lactate, Proximal renal tubular acidosis, Hyp...	OMIM:266150
Myasthenic Syndrome, Congenital, 25, Presynaptic	Severe muscular hypotonia, Spinal rigidity, Kyphosis, Flexion contracture, Hypotonia, Myopathy, G...	OMIM:618323
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula...	OMIM:619481
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Distal sensory impairment, Scoliosis, Difficulty walking, Lower ...	OMIM:617087
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Increased serum lactate, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity	OMIM:545000
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Increased serum lactate, Bradykinesia, Athetosis, Scoliosis, Dystonia, S...	OMIM:500001
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Intrauterine growth r...	OMIM:615010
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Increased serum lactate, Ragged-red muscle fibers...	OMIM:300816
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Lower limb spasticity, Hepatic steatosis, Hypotonia	OMIM:615119
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Dystonia, Short neck, Kyphosis, Inability to walk, Facial diplegia, Neon...	OMIM:611890
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan...	OMIM:613070
Propionic Acidemia	Hepatomegaly, Axial hypotonia, Short stature, Increased level of hippuric acid in urine, Hypoglyc...	OMIM:606054
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Gracile Syndrome	Cholestasis, Lactic acidosis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentrat...	ORPHA:53693
Bethlem Myopathy 2	Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hypotonia, Myopathy, Scolio...	OMIM:616471
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Hand tremor, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperin...	ORPHA:79299
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia, Type II diabetes mellitus	ORPHA:225
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Atypical Rett Syndrome	Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Limb myoclon...	ORPHA:3095
Immunodeficiency 56	Cholangitis, Chronic diarrhea, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Hep...	OMIM:615207
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Elevated lactate:pyruvate ratio, Hypergonadotropic hypogonadism, Tr...	OMIM:619737
Combined Oxidative Phosphorylation Deficiency 45	Axial hypotonia, Ataxia, Short neck, Tremor, Increased serum lactate	OMIM:618951
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Malignant Hyperthermia, Susceptibility To, 4	Acidosis, Rhabdomyolysis	OMIM:600467
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d...	ORPHA:65682
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Hypoglycemia, Mesangial h...	OMIM:617575
Prolidase Deficiency	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Low anterior hairline, Hirsutism, Ski...	ORPHA:742
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Thoracic scoliosis, Multiple joint contr...	ORPHA:2959
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Thin skin	ORPHA:1810
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic mov...	OMIM:618285
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth delay, Cholesta...	OMIM:619858
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Axial hypotonia, Short stature, Ataxia, Kyphosis, Appendicular hypotonia, Tongue fasciculations, ...	OMIM:620007
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Red-brown urine, Myopathy, Reduced c...	ORPHA:228305
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Thin skin	OMIM:617364
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Axial hypotonia, Ataxia, Increased serum lactate, Babinski sign, Hypotonia, Growth ...	OMIM:618226
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Dystonia, Sp...	OMIM:610329
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H...	ORPHA:101109
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate, Babinski sign	OMIM:249500
Coenzyme Q10 Deficiency, Primary, 5	Increased serum lactate, Hypotonia, Lactic acidosis, Hypertonia, Generalized hypotonia, Dystonia,...	OMIM:614654
Dystonia 32	Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:619637
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Cog2-Cdg	Decreased liver function	ORPHA:435934
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Jaundice, Cholestasis, Elevated...	ORPHA:30391
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should...	OMIM:606612
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Increased serum lactate, Gro...	OMIM:614932
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Rigidity, Glutaric aciduria, Hypotonia, Spastic diplegia, ...	OMIM:231670
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Facial palsy, Increased serum lactate, Ragged-red muscle fibers, Increased muscle l...	OMIM:500009
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Acute hepatic failure, Elevated hepatic transaminase, Ketonuria,...	OMIM:615453
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Glucose intolerance,...	OMIM:606069
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate, Hypotonia	OMIM:618245
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Hypoglycemia, Hypotonia, Opisthotonus, Acute hepatic steatosis, Generalized hypotonia,...	OMIM:210200
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Hypotonia, Myoclonus, Dystonia	ORPHA:139406
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic...	ORPHA:263501
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Increased serum lactate, Difficulty walking, Dys...	OMIM:616684
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Increased circulating lactate dehydrogenase concentration,...	OMIM:185070
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Frequent falls, Increased laxity of fingers, Short neck, Spinal rigidity, Kyphosis, ...	ORPHA:75840
Baker-Gordon Syndrome	Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov...	OMIM:618218
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Elevated circulating alkaline phosphatase ...	OMIM:214900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Increased serum lactate, Ragged-red muscle fibers, H...	OMIM:613561
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis	OMIM:613280
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Abdominal distention, Diarrhea, Cholestasis, Vomiting, Decreased li...	OMIM:608104
Foxg1 Syndrome	Short stature, Kyphoscoliosis, Inability to walk, Hypotonia, Choreoathetosis, Severe postnatal gr...	ORPHA:561854
Mitochondrial Myopathy With Lactic Acidosis	Increased serum lactate, Hypotonia, Dysmetria, Lactic acidosis, Elevated serum anion gap, Tip-toe...	OMIM:251950
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Urinary urgency, Bradykine...	OMIM:618418
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Increased serum lactate, Babinski sign, Hypotonia, Choreoathetosis, Limb dys...	OMIM:619054
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scol...	OMIM:616033
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat...	OMIM:614034
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Hypotonia, Lactic acidosis, Myopathy, Scoliosis, Delay...	ORPHA:2598
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Short stature, Increased serum serotonin	ORPHA:85288
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Proteinuria, Hyp...	OMIM:232220
Hypoglycemia, Leucine-Induced	Spasticity, Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyra...	ORPHA:96
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormality of chromosome stability, Diab...	ORPHA:100
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Hyperlordosis, Spi...	OMIM:613327
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Joint laxity, Ataxia, Clonus, Short neck, Tremor, Sp...	OMIM:615673
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Severe muscular hypotonia, Involuntary movements, Increased serum lactat...	ORPHA:238329
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ...	OMIM:614921
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Short stature, Inability to walk, Spastic paraplegia, Flexion contracture, Babinsk...	OMIM:614066
Leukodystrophy, Hypomyelinating, 14	Growth delay, Spasticity, Generalized hypotonia, Dystonia	OMIM:617899
Blepharonasofacial Malformation Syndrome	Facial palsy, Torsion dystonia	OMIM:110050
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Wolman Disease	Nausea and vomiting, Hepatomegaly, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l...	ORPHA:367
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait a...	OMIM:607136
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke...	OMIM:619260
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Ataxia, Spastic tetraplegia, Tetraparesis, Dystonia, Infantile muscular hypotonia	ORPHA:263410
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Urinary incontinence, Ataxia, Tremor, Abnormal pyramidal sign, Dy...	OMIM:617145
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Short neck, Tremor, Flexion contracture, Choreoathetosis, Male hypogonadism, Wrist flexion contra...	OMIM:300055
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Maturity-onset diab...	ORPHA:324575
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines...	OMIM:213600
Neutral Lipid Storage Myopathy	Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc...	ORPHA:98908
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-...	OMIM:271530
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Insuli...	ORPHA:401768
Babesiosis	Nausea and vomiting, Hepatomegaly, Anorexia, Jaundice, Hepatic failure	ORPHA:108
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Thin skin	ORPHA:157965
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal muscle hy...	OMIM:613877
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas...	OMIM:615895
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn...	ORPHA:3032
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Exercise-...	OMIM:300559
Developmental And Epileptic Encephalopathy 53	Increased serum lactate, Hypotonia, Spastic tetraplegia, Dystonia	OMIM:617389
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Bardet-Biedl Syndrome 19	Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hypogonadism, Hepatic steatosis,...	OMIM:615996
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Tremor, Increased serum lactate, Hypotonia, Methylmalonic aciduria, Dysm...	OMIM:615578
Ataxia-Telangiectasia-Like Disorder	Joint laxity, Hypergonadotropic hypogonadism, Short stature, Ataxia, Chorea, Dysmetria, Gait atax...	ORPHA:251347
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Biliary tract...	ORPHA:79301
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Joint hyperflexibility, Lower...	OMIM:614898
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure	OMIM:618567
Atypical Hemolytic Uremic Syndrome	Hematuria, Abnormal lactate dehydrogenase level, Proteinuria, Acute kidney injury	ORPHA:2134
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Jaundice, Intermittent jaun...	ORPHA:3111
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Ex...	OMIM:201475
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Spastic tetraparesis, Increa...	ORPHA:391428
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc...	OMIM:617013
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism	OMIM:619647
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Facial hypotonia, Short stature, Generalized joint laxity, Babinski sign, Hypotoni...	ORPHA:280763
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Lactic acidosis, C...	ORPHA:506
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Sco...	ORPHA:101078
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting	OMIM:238970
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ...	OMIM:612350
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cholestasis, Hepati...	OMIM:618641
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure	ORPHA:156
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Increased serum lactate, Abnormal pyramidal sign, Hypotonia, Lactic acidosis, Progressive...	ORPHA:139485
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Postnatal growth retardation, Precoci...	ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Increased serum lactate, Flexion contracture, Babinski sign, Ankle clonus,...	OMIM:618397
Mitochondrial Complex I Deficiency, Nuclear Type 12	Axial hypotonia, Ataxia, Increased serum lactate, Unsteady gait, Hypotonia, Choreoathetosis, Myoc...	OMIM:301020
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia, Ankle flexion contracture, Ketoacidosis, Rhabdomyolysis, Lactic acid...	OMIM:618120
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Choreoathetosis, Metabo...	OMIM:618247
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Hypoglycemia, Neoplasm of the liver, Recurrent hyp...	ORPHA:2126
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Increased serum lactate, Inability to walk, Hypotonia, Lactic acidosis, 3-Methylglu...	OMIM:614739
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Cogwheel rigidity, Choreoathetos...	ORPHA:225154
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Glutaric aciduria, Lactic acidosis, 3-Methylglutaric aciduria, Hepatomeg...	ORPHA:26791
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Osteomalacia, Recurrent fractures, Delayed...	OMIM:300009
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Increased serum lactate, Limb-girdle muscle weakness, Myo...	OMIM:251900
Combined Oxidative Phosphorylation Deficiency 43	Neonatal hypotonia, Intrauterine growth retardation, Increased serum lactate	OMIM:618851
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po...	OMIM:245349
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Lo...	OMIM:618088
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Truncal a...	OMIM:616127
Combined Oxidative Phosphorylation Deficiency 50	Intrauterine growth retardation, Generalized dystonia, Short stature, Adrenal insufficiency	OMIM:619025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Hypotonia, Growth delay, Chore...	ORPHA:289916
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Abdominal pain	ORPHA:890
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Proteinuria, Hypergonadotropic hypogonad...	OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Portal...	OMIM:602347
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Metaboli...	OMIM:619003
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Developmental And Epileptic Encephalopathy 7	Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Unsteady gait, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Babinski sign,...	ORPHA:453521
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle...	OMIM:255200
Peroxisome Biogenesis Disorder 5B	Decreased liver function	OMIM:614867
Galloway-Mowat Syndrome 5	Proteinuria, Ataxia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Spastici...	OMIM:617731
Coenzyme Q10 Deficiency, Primary, 7	Increased serum lactate, Patent ductus arteriosus, Hypotonia, Scoliosis, Neonatal hypotonia, Intr...	OMIM:616276
Masa Syndrome	Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Sh...	OMIM:303350
Galloway-Mowat Syndrome 6	Short stature, Proteinuria, Decreased response to growth hormone stimulation test, Growth delay, ...	OMIM:618347
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Spastic paraplegia, Ba...	OMIM:612319
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Increased serum lactate, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation	OMIM:617917
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Axial hypotonia, Ankle flexion contracture, Increased serum lactate, Choreoathet...	ORPHA:319514
Developmental And Epileptic Encephalopathy 75	Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Ataxia, Portal hypertension, Growth delay, Hepatic fibrosis, Dystonia, Intrauterine g...	OMIM:617341
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Spasticity, Increased serum lactate	OMIM:617613
Dent Disease	Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri...	ORPHA:1652
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Tremor, Inability to walk, Increased serum lactate, Hypotonia, Horseshoe kidney, ...	OMIM:617664
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, Clonus, Short neck, Increased serum lactate, Hypotonia, Choreoathetosis, 3-...	OMIM:617698
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Splenomegaly, Jaun...	ORPHA:905
Friedreich Ataxia	Hand muscle atrophy, Diabetes mellitus, Inability to walk, Chorea, Babinski sign, Impaired propri...	ORPHA:95
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Hyperlipidemia, Red-brown urine, Renal ...	ORPHA:228308
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Axial hypotonia, Facial hypotonia, Camptocormia, Renal insufficie...	OMIM:617595
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Truncal ataxia, ...	OMIM:208920
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Hyp...	OMIM:128100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Lactic acidosis, Hypothyroidism, Hepatic ste...	ORPHA:79259
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Poor coord...	OMIM:610965
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Increased serum lactate, Hypotonia,...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Increased serum lactate, Hypotonia, Lactic acidosis, Metabolic acidosis, Dystonia, ...	OMIM:614702
Alg1-Cdg	Chronic diarrhea, Decreased liver function	ORPHA:79327
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Increased serum lactate, Hypotonia, Chronic lactic acidosis, Choreoathetosis, Lactic acid...	OMIM:312170
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Joint hyperflexibility, ...	ORPHA:319199
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Coach Syndrome 1	Occipital encephalocele, Multiple small medullary renal cysts, Renal cyst, Hepatic fibrosis, Gene...	OMIM:216360
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Rickets, Growth delay, Metabolic acidosis, Aminoaciduria, Glyco...	OMIM:615605
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Diarrhea, Hepatosplen...	ORPHA:98850
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Hypersplenism, Splenomegal...	ORPHA:77259
Leukodystrophy, Hypomyelinating, 18	Dystonia, Flexion contracture, Babinski sign, Spastic tetraplegia, Dysmetria, Scoliosis, Progress...	OMIM:618404
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res...	ORPHA:528
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Skeletal muscle atrophy, Short stature, Loss of ability to walk in early ...	OMIM:612073
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Dystonia, Intraute...	OMIM:610333
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:158061
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si...	OMIM:615157
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re...	ORPHA:1215
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Ataxia,...	ORPHA:812
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Hypotonia, Distal sensor...	OMIM:618124
19Q13.11 Microdeletion Syndrome	Hypospadias, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Thin sk...	ORPHA:217346
Blue Diaper Syndrome	Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In...	ORPHA:94086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achille...	OMIM:607155
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia	OMIM:606528
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Subcutaneous nodule, Atrophic scars, Nail dystrophy, Dermal atrophy, Skin plaque, Milia...	ORPHA:89843
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Ataxia, Spastic paraplegia, Hypotonia, Renal hypoplasia, Tetraplegia...	ORPHA:254913
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Abnormal glycosphingolipid metabolism	ORPHA:796
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, D...	OMIM:615643
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys...	ORPHA:699
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short stature, Hypergonadotropic hypogonadism, Ataxia, Centrally nucleat...	OMIM:248800
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Generalized hypotonia, Dystonia	OMIM:616763
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance,...	OMIM:604367
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia	OMIM:614820
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in...	OMIM:614487
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Axial hypotonia, Elevated circulating aspartate aminotransferase concentration, Spa...	OMIM:614924
4H Leukodystrophy	Short stature, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadi...	ORPHA:289494
3-Methylglutaconic Aciduria, Type I	Ataxia, Urinary incontinence, Spastic tetraplegia, Metabolic acidosis, Athetosis, 3-Methylglutaco...	OMIM:250950
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:98855
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Increased muscle lipid content, Knee flexion contracture, Macrovesicular he...	OMIM:608836
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Rhabdomyolysis,...	OMIM:212138
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Involuntary movemen...	ORPHA:565624
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures...	ORPHA:98863
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Ataxia, Acute rhabdomyolysis, Clonus, Incoordination, I...	ORPHA:480864
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Urinar...	OMIM:601338
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of car...	OMIM:618392
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Spinocerebellar Ataxia, Autosomal Recessive 29	Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotonia	OMIM:619389
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Proteinuria, Hypertriglyceridemi...	ORPHA:79086
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Periventricular Nodular Heterotopia	Thin skin, Hernia	ORPHA:98892
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Severe muscular hypotonia, Spastic tetraplegia, Hypotonia, Lacti...	OMIM:615330
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Hypotonia, Scoliosis, Generalized hypotonia, Micropenis, Delayed puberty...	OMIM:301900
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk...	ORPHA:101150
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased lecithin cholesterol acyl trans...	OMIM:245900
Schimke Immunoosseous Dysplasia	Waddling gait, Osteopenia, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebra...	OMIM:242900
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Multiple Mitochondrial Dysfunctions Syndrome 6	Ataxia, Increased serum lactate, Inability to walk, Hypotonia, Dysmetria, Dystonia, Spasticity	OMIM:617954
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Portal hypertension, Hepatosplenomegaly	OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Metabolic acidosis, Spasticity, Acidosis	OMIM:618235
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Hypotonia, Growth delay, Increased muscl...	OMIM:261750
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Ataxia, Growth delay, Athetosis, Tetraparesis, Dystonia	OMIM:619310
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Camptodactyly	OMIM:618453
19P13.12 Microdeletion Syndrome	Hypospadias, Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Hypothyroidism, Hyperlip...	ORPHA:254346
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Axial hypotonia, Ataxia, Increased serum lactate, Abnormal pyramidal sig...	OMIM:618228
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia...	OMIM:618093
Sengers Syndrome	Osteopenia, Increased serum lactate, Hypotonia, Growth delay, Myopathy, Lactic acidosis, 3-Methyl...	OMIM:212350
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Short stature, Proteinuria, Macronodular cirrhosis, Nephrotic syndrome, Mucopolysacchariduria, Ge...	OMIM:215250
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Renal insuffici...	ORPHA:99845
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Aminoaciduria, Abnormality of the ...	OMIM:250620
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Hypotonia, Joint hyperflexibility, Hypogonadism, Gait disturbance, Congenital muscular ...	ORPHA:1875
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Lact...	OMIM:618805
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, Hyperkinetic ...	OMIM:614254
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Ename...	ORPHA:79402
Infantile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Chorea, Unsteady gait, Dys...	ORPHA:79263
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Hypotonia, Growth delay, Neph...	OMIM:619428
Focal Dermal Hypoplasia	Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e...	ORPHA:2092
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Ataxia, Postnatal growth ret...	OMIM:616263
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Feeding difficulties in infancy	OMIM:618752
Glycogen Storage Disease Xi	Renal insufficiency, Rigidity, Increased serum lactate, Rhabdomyolysis, Myoglobinuria	OMIM:612933
Citrullinemia Type I	Gastroesophageal reflux, Hepatic failure, Vomiting, Feeding difficulties	ORPHA:247525
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Hypospadias, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic a...	OMIM:618253
Acute Peripheral Arterial Occlusion	Paralysis, Paresthesia, Impaired distal tactile sensation, Limb muscle weakness, Acidosis	ORPHA:90064
Intellectual Developmental Disorder, X-Linked 111	Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia, Spasticity	OMIM:301107
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia	OMIM:617836
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Intrauterine growth retardation, Neonatal death	OMIM:301021
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Ataxia, Chorea, Poor coordination, Falls, Dystonia, Paroxysmal dyskinesia	OMIM:619150
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hyperlipidemia, Myopath...	OMIM:232400
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Growth delay, Abnormal muscle tone, Gait disturbance, Scoliosi...	ORPHA:505652
Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:98853
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype...	ORPHA:480520
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Chronic ki...	OMIM:613845
Harel-Yoon Syndrome	Axial hypotonia, Ataxia, Increased serum lactate, Inability to walk, Hypotonia, Distal amyotrophy...	OMIM:617183
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Seckel Syndrome 10	Acute pancreatitis, Severe short stature, Diabetes mellitus, Elevated circulating aspartate amino...	OMIM:617253
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cryptorchidism, Thin skin, Sparse hair, Umbilical hernia	OMIM:219150
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Decreased adiponecti...	ORPHA:435660
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Camptocormia, Involuntary movements, Chorea, Hypotonia, Paroxysm...	OMIM:606703
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Rigidity, Inability to walk, Hypotonia, Lactic acidosis, Athetosis, Gait disturbanc...	OMIM:618241
Dihydropyrimidinase Deficiency	Abnormal pyramidal sign, Growth delay, Metabolic acidosis, Uraciluria, Extrapyramidal dyskinesia,...	OMIM:222748
Lopes-Maciel-Rodan Syndrome	Axial hypotonia, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykin...	OMIM:617435
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hypoton...	OMIM:246450
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Hepatic failure	ORPHA:261519
Becker Muscular Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal urinary color, Tip-toe gait, Fal...	ORPHA:98895
Dystonia 28	Torticollis, Generalized dystonia, Short stature, Precocious puberty, Abnormal pyramidal sign, Le...	ORPHA:589618
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Hypotonia, Cystinuria, Growth delay, Lactic acidosis, Hypogonadism	ORPHA:163693
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Decreased fertility...	ORPHA:1643
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hypotonia, Hematuria, Nephrotic syndrome, Focal segm...	OMIM:618349
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titub...	OMIM:312080
Glycogen Storage Disease 0, Liver	Increased serum lactate, Neonatal hypoglycemia, Fasting hypoglycemia, Postprandial hyperglycemia	OMIM:240600
Tremor-Ataxia-Central Hypomyelination Syndrome	Dystonia, Short stature, Postural tremor, Hypogonadotropic hypogonadism, Impaired distal proprioc...	ORPHA:447896
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi...	OMIM:615528
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia, Hypotonia, Methylmalonic aciduria, Lactic acidosis, Metabolic acidos...	OMIM:248360
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fiber...	OMIM:620138
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Impaired proprioception, Steatorrhea, Growth...	ORPHA:71
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Increased serum lactate, Patent ductus arteriosus, Lactic acidosis...	OMIM:610498
Donohue Syndrome	Skeletal muscle atrophy, Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsul...	OMIM:246200
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic...	OMIM:615238
Short Stature, Dauber-Argente Type	Osteopenia, Short stature, Postnatal growth retardation, Fasting hyperinsulinemia, Reduced bone m...	OMIM:619489
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71526
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized hypotonia, Limb...	ORPHA:71517
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Postnatal growth retardation, Tremor, Prominent protruding coccyx, Spastic diplegia, Generalized ...	ORPHA:480907
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Urinary inc...	ORPHA:88644
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Increased serum lactate, Inability to walk, Flexion contracture, Abnormal medullary pyram...	ORPHA:79243
Raynaud-Claes Syndrome	Lower limb spasticity, Dystonia, Hypotonia, Progressive cerebellar ataxia, Scoliosis, Generalized...	OMIM:300114
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a...	OMIM:617916
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Short stature, Proteinuria, Hypotonia...	OMIM:617730
Leukodystrophy, Hypomyelinating, 4	Head titubation, Increased serum lactate, Spastic paraplegia, Flexion contracture, Hypotonia, Bab...	OMIM:612233
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti...	ORPHA:101330
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Impaired temperature sensation, Flexion contracture, Knee flexi...	ORPHA:2614
D-Glyceric Aciduria	Axial hypotonia, Hypoglycemia, Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activ...	OMIM:220120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Increased serum lactate, Ragged-red mu...	OMIM:616479
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Recurrent myoglobinuria, Elevated circulating aspartate aminotransferase concentrat...	OMIM:620300
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Reduced circulating aldolase concentratio...	ORPHA:57
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ...	OMIM:610246
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy...	ORPHA:352596
Peroxisome Biogenesis Disorder 8B	Constipation, Decreased liver function, Dysphagia	OMIM:614877
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate, Chorea, Hypotonia, Generalized hypotonia	OMIM:614055
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Hypotonia, Hemiparesis, Abnormality of extrapyramidal motor function, ...	OMIM:615338
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Renal insufficiency, Foot joi...	ORPHA:90321
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Short neck, Increased serum lactate, Spastic paraplegia, Flexion contracture, Gro...	OMIM:619026
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Scolio...	OMIM:236200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypog...	ORPHA:276608
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxi...	ORPHA:500180
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, Decerebrate...	ORPHA:354
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Jaundice, Cholestasis, Sclerosing cholangitis, Bile duct proli...	OMIM:607626
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu...	ORPHA:2028
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas...	OMIM:606003
Spinocerebellar Ataxia Type 2	Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Increased serum lactate, Opisthotonus, Metabolic acidosis, Lactic acidosis, Neonata...	OMIM:610678
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Tremor, Growth delay, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia	OMIM:619422
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Proteinuria, Short neck, Minimal cha...	ORPHA:1830
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypotonia, Spastic tetraplegia, Choreoathetosis, Lactic acidosis, Metabolic acidosi...	OMIM:300438
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spa...	OMIM:612716
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Muscula...	ORPHA:459033
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Axial hypotonia, Increased serum lactate, Gait ataxia, 3-Methylglutaconic aciduria, Scoliosis, De...	ORPHA:496790
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni...	OMIM:618824
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hypertonia, Generalized hypotonia, Hepat...	OMIM:203700
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmet...	ORPHA:98755
Dystonia 15, Myoclonic	Myoclonus, Writer's cramp, Dystonia	OMIM:607488
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Short stature, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic...	OMIM:619052
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Hypertriglyceridemia, Minimal change glome...	ORPHA:567548
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky...	OMIM:130060
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia	OMIM:605909
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Increased serum lactate, Inability to walk, Bradykinesia, ...	ORPHA:778
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Clonus, Increased serum lactate, Spastic tetraplegia, Lactic acidosis, Metabolic ac...	OMIM:619055
Pontocerebellar Hypoplasia, Type 13	Constipation, Decreased liver function, Feeding difficulties	OMIM:618606
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Hypotonia, Spastic diplegia, Cho...	ORPHA:2715
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Leigh Syndrome	Ataxia, Increased serum lactate, Hypotonia, Hepatocellular necrosis, Lactic acidosis, Generalized...	OMIM:256000
Pyruvate Dehydrogenase Phosphatase Deficiency	Axial hypotonia, Increased serum lactate, Lacticaciduria, Lactic acidosis, Neonatal hypotonia	ORPHA:79246
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Hypotonia, Dystonia, Spasticity	OMIM:617820
Renal Hypoplasia, Bilateral	Short stature, Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Growt...	ORPHA:97362
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitu...	ORPHA:276580
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Torticollis, Dystonia, Diabetes mellitus, ...	ORPHA:48818
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait...	ORPHA:99014
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Hypomimic fac...	ORPHA:70594
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossific...	OMIM:300554
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Axial hypotonia, Myoclonus, Dystonia	OMIM:619651
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul...	ORPHA:79321
Pelizaeus-Merzbacher Disease	Short stature, Ataxia, Joint stiffness, Kyphosis, Hypotonia, Choreoathetosis, Abnormality of the ...	ORPHA:702
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Rha...	OMIM:609015
Polyendocrine-Polyneuropathy Syndrome	Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Ataxia, Postnatal gr...	OMIM:616113
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,...	ORPHA:352649
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia	ORPHA:98934
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduc...	OMIM:231900
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Tay-Sachs Disease	Skeletal muscle atrophy, Abnormality of glycolipid metabolism, Tremor, Dysmetria, Decerebrate rig...	ORPHA:845
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Proteinuria, Hem...	ORPHA:2065
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Scoliosis, D...	OMIM:611390
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot...	ORPHA:298
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure	OMIM:602579
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Hypotonia, Truncal ataxia, Growth delay, Glucose intolerance, Joint c...	OMIM:614407
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Rhabdomyolysis, Increased muscle lipid content, Red-brown urine, Renal tubul...	ORPHA:228302
Wieacker-Wolff Syndrome	Short stature, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Oculomotor apraxia, Hypotonia, ...	OMIM:314580
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo...	ORPHA:18
Kaya-Barakat-Masson Syndrome	Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Scoliosis, Intrauteri...	OMIM:619125
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Thoracic scoliosis, Writer's cramp, Peroneal muscle atrophy, Flexion contrac...	ORPHA:324442
Riboflavin Deficiency	Dicarboxylic aciduria, Hypoglycemia, Hypotonia, Metabolic acidosis, Lactic acidosis	OMIM:615026
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Short stature, Kyphosis, Hypertonia, Umbilical hernia, Scoliosis, Generalized hyp...	OMIM:615834
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hy...	OMIM:617964
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis...	OMIM:245348
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Poor appetite, Anorexia, Bowel ...	ORPHA:100075
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Dystonia, Intrauterine growth retardation	OMIM:619922
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ataxia, Dysmetria, Spastic dysarthria, Abnormal mitochondria in muscle tissue, Distal amyotrophy,...	ORPHA:313772
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Short stature, Postural tremor, Hypogonadotropic hypogonadism, Ataxia, Tremor, Babinski sign, Dys...	OMIM:607694
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Joint hypermobility, Increase...	OMIM:619418
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity	ORPHA:77260
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased methionine synthase activity, Renal insufficiency, Proteinuria,...	OMIM:277400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Ataxia, Increased serum lact...	OMIM:615471
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Short stature, Proteinuria, Kyphoscoliosis, Minimal change glomerulo...	OMIM:618348
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:79085
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Osteolytic defects of the mid...	ORPHA:765
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hepatosplenomegaly, Knee flexion contracture...	ORPHA:79322
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Neurogenic bladder, Urinary incontin...	ORPHA:466722
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Ataxia, Hypoglycemia, Increased serum lactate, Ketoacidosis, Hypotonia, ...	ORPHA:134
Developmental And Epileptic Encephalopathy 6B	Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move...	OMIM:619317
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatocellular carcinoma, Increased circulatin...	ORPHA:158057
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Ataxia, Neonatal hypoglycemia, Tremor, Inc...	ORPHA:572798
Developmental And Epileptic Encephalopathy 27	Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:616139
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Scoliosis, Generalized hypotonia, Diff...	ORPHA:306669
Leukodystrophy, Hypomyelinating, 6	Axial hypotonia, Short stature, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, O...	OMIM:612438
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Increased serum lactate, Flexion contracture, Renal hypoplasia, Lacticaciduria, Ami...	OMIM:604273
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Joint laxity, Short stature, Hypospadias, Tremor, Kyphosis, Hypoton...	OMIM:300354
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Gen...	OMIM:617384
Mucolipidosis Iv	Babinski sign, Hypotonia, Spastic tetraplegia, Hypergastrinemia, Ganglioside accumulation, Genera...	OMIM:252650
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Infantile Dystonia-Parkinsonism	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign...	ORPHA:238455
Spinocerebellar Ataxia 14	Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Facial myokymia, Impaired ...	OMIM:605361
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Choreoathetosis, Decreased activity of NADPH oxidase, P...	ORPHA:431361
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fast...	ORPHA:2298
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli...	ORPHA:293964
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti...	ORPHA:79100
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia	OMIM:104290
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Short stature, Kyphosis, Congenital contracture, Hypertonia, Umbilical hernia, Jo...	ORPHA:352490
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Spondyloenchondrodysplasia	Short stature, Proteinuria, Decreased response to growth hormone stimulation test, Kyphosis, Chor...	ORPHA:1855
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi...	OMIM:232240
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Nonketotic hy...	ORPHA:20
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Hurthle cell thyroid adenoma, Hypotonia, Thyroid carcinoma, Hepatic steatosis	ORPHA:210548
Baralle-Macken Syndrome	Urinary incontinence, Kyphosis, Inability to walk, Dystonia, Neonatal hypotonia, Spasticity	OMIM:619255
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Ataxia, Hypotonia, Lacticaciduria, Lactic acidosis, Left ventricular non...	OMIM:619167
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, A...	ORPHA:254892
Glycogen Storage Disease Xii	Hepatomegaly, Short stature, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine ami...	OMIM:611881
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat...	OMIM:604391
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis,...	OMIM:262190
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Increased serum lactate, Ragged-red muscle fibers, Wea...	OMIM:617069
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Head tremor, Dystonia,...	OMIM:613724
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult...	OMIM:618393
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Ataxia, Increased serum lactate, Unsteady gait, Babin...	ORPHA:401866
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Combined Oxidative Phosphorylation Deficiency 31	Increased serum lactate, Hypotonia, Lactic acidosis, Hypertonia, Left ventricular noncompaction, ...	OMIM:617228
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Hypotonia	OMIM:616198
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Hypophosphatemic rickets,...	OMIM:618913
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglyc...	ORPHA:276575
Abetalipoproteinemia	Osteopenia, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Step...	ORPHA:14
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Short stature, Renal agenesis, Hypergonadotropic hypogonadism, Ecto...	OMIM:227645
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function	OMIM:251290
Pituitary Adenoma 4, Acth-Secreting	Hirsutism, Nephrolithiasis, Oligomenorrhea, Thin skin, Striae distensae	OMIM:219090
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Abnormality of the thyroid gland, Kypho...	ORPHA:2047
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Absence of subcutaneous fat, Thin skin	OMIM:269880
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Acute kidney i...	ORPHA:54057
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Ketonuria, Cerebral palsy, Hypoglycemia, Ketoacidosis, Hypotonia, Hyperg...	OMIM:210210
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hyperlipidemia, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Re...	ORPHA:157
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Short neck, Splenomegaly, Patent ductus arteriosus, Flexion contractur...	OMIM:617303
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Fine hair...	OMIM:129400
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Developmental And Epileptic Encephalopathy 1	Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Hy...	OMIM:308350
Alpha-Mannosidosis	Hepatomegaly, Craniofacial hyperostosis, Short neck, Splenomegaly, Kyphosis, Hypotonia, Macroglos...	ORPHA:61
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Axial hypotonia, Spastic tetraparesis, Increas...	OMIM:605711
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A...	OMIM:137920
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Thin skin, Striae distensae	OMIM:610475
Galactokinase Deficiency	Speech apraxia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadot...	ORPHA:79237
Machado-Joseph Disease	Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi...	OMIM:109150
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Tremor, Hyperlipidemia, Enures...	ORPHA:247585
Pure Mitochondrial Myopathy	Waddling gait, Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle...	ORPHA:254854
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Supernumerary nipple, Cr...	ORPHA:1812
Huntington Disease-Like 3	Ataxia, Urinary incontinence, Chorea, Flexion contracture, Unsteady gait, Abnormal pyramidal sign...	OMIM:604802
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ataxia, Microno...	ORPHA:98907
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Idiopathic Copper-Associated Cirrhosis	Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Increased serum lactate, Rhabdomyolysis, Hypotonia, Lactic acidosis, Myo...	OMIM:255125
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Increased serum lactate, Chronic kidney disease, Renal tubular acidosis, 3-Methylg...	ORPHA:324525
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Short stature, Rickets, Hepatosplenomegaly, Nephrocalcinosis, Metabolic acidosis, Di...	OMIM:611590
Leukodystrophy, Hypomyelinating, 25	Growth delay, Gait ataxia, Hypotonia, Dystonia	OMIM:620243
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Neurogenic bladder, Dystonia, Babinski sign, Abnormal pyramidal sign, Pr...	ORPHA:513436
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Spasticity, Axial hypotonia, Dystonia	OMIM:614249
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Intestinal obst...	ORPHA:85450
Siddiqi Syndrome	Flexion contracture, Lower limb amyotrophy, Urinary incontinence, Limb dystonia	OMIM:618635
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Intrauterine growth retardation, Lactic acidosis	OMIM:618776
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Melas	Ragged-red muscle fibers, Lactic acidosis, Nephropathy, Hypothyroidism, Abnormal mitochondria in ...	ORPHA:550
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Dystonia	ORPHA:261204
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Generalized hypotonia, Hepatic steatosis, Joint laxity,...	OMIM:613658
Huntington Disease-Like 3	Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Chorea, Flexion contrac...	ORPHA:157946
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Parapl...	ORPHA:33364
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Ataxia, Increased serum lactate, Babinski sign, Hypotonia, Gait ataxia, ...	OMIM:620089
Spinocerebellar Ataxia Type 11	Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia	ORPHA:98767
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Hypoto...	OMIM:618484
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Scoliosis	OMIM:300434
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Elevated hepatic transaminase, Fatal liver failure in infancy, Abdominal pai...	ORPHA:275761
Arima Syndrome	Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Ataxia, Hypotonia, Stage 5 chronic ki...	OMIM:243910
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle...	OMIM:181405
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Clonus, Increased serum lactate, Hypotonia, 3-Methylglutaconic aciduria, Sp...	ORPHA:505216
Combined Oxidative Phosphorylation Deficiency 27	Severe muscular hypotonia, Increased serum lactate, Microvesicular hepatic steatosis, Chorea, Hyp...	OMIM:616672
Primary Biliary Cholangitis	Portal hypertension, Abdominal distention, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestin...	ORPHA:186
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Hypotonia, 4-Hydroxyphenylpyruvic aciduria, Metabolic acidosis, H...	ORPHA:2118
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, Intermitt...	OMIM:619644
Developmental And Epileptic Encephalopathy 44	Axial hypotonia, Short stature, Athetosis, Dystonia, Spasticity	OMIM:617132
Familial Renal Glucosuria	Recurrent urinary tract infections, Insulin resistance, Moderate postnatal growth retardation, Ab...	ORPHA:69076
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Postural tremor, Progressive flexion contractures, Ataxia, Par...	ORPHA:98808
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Hypotoni...	OMIM:230500
Sjögren-Larsson Syndrome	Short stature, Joint stiffness, Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic diplegia, S...	ORPHA:816
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Short stature, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubu...	OMIM:604278
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Short stature, Hypotonia, Scoliosis	ORPHA:276630
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies...	OMIM:230000
Deafness, Dystonia, And Cerebral Hypomyelination	Intrauterine growth retardation, Abnormal pyramidal sign, Tetraplegia, Dystonia	OMIM:300475
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity, Dystonia	OMIM:271930
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Urinary incontinence, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:620094
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Ataxia, Increased serum lactate, Dysmetria, Lower limb hypertonia, Pseudob...	ORPHA:438114
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoglycemia, Increased...	OMIM:615751
Combined Oxidative Phosphorylation Deficiency 28	Increased serum lactate, Ragged-red muscle fibers, Severe lactic acidosis, Generalized hypotonia	OMIM:616794
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells...	ORPHA:97279
Metatropic Dysplasia	Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Scoliosis, Dystonia, Generalized h...	ORPHA:527497
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea, Axial hypotonia, Dystonia	OMIM:618760
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Nephropathy	ORPHA:100024
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta...	ORPHA:454887
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney ...	OMIM:614376
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat...	OMIM:600649
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Akinesia, Increased serum lactate, Hypotonia, Spastic tetraplegia, Growth de...	OMIM:619147
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Fulminant hepatitis, Hepatic failure	OMIM:308240
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,...	ORPHA:1901
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestatic liver disease, Colitis, Decrea...	ORPHA:540
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Reactive hypoglycemi...	ORPHA:35878
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Ataxia, Dystonia	ORPHA:1171
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,...	OMIM:254090
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Vesicou...	ORPHA:261222
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteol...	ORPHA:2774
Cockayne Syndrome Type 2	Lower limb spasticity, Hepatomegaly, Axial hypotonia, Ataxia, Kyphosis, Flexion contracture, Male...	ORPHA:90322
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Spastic paraplegia, B...	OMIM:606693
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Decreased liver function	OMIM:618835
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Hypertonia, Progressive ga...	ORPHA:191
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hyp...	OMIM:253000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Decreased liver function	OMIM:618839
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Rhabdomyolysis, Babinski sign, Hypotonia, Cholestasis, Skeletal myopathy, Tip...	ORPHA:746
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Increased serum lactate, Lactic acidosis, Myopathy, ...	OMIM:617713
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Hypoplastic...	ORPHA:978
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Increased serum lactate, Patent ductus arteriosus, Jaundice, Hypotonia, Growth de...	OMIM:617248
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Chorea, Hypotonia, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Pro...	ORPHA:382
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Hypoglyc...	OMIM:276700
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia...	OMIM:617282
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Clonus, Increased serum lactate, Macroglossia, Hypertonia, Dys...	OMIM:615809
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Shashi-Pena Syndrome	Hypoglycemia, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Osteoporosis, Hypoto...	OMIM:617190
Pontocerebellar Hypoplasia, Type 14	Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia	OMIM:619301
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Waddling gait, Left ventricular hypertrophy, Elevated circulating ...	OMIM:300280
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Cholestasis, Abnormality of the liver, Hepatic failure	ORPHA:398124
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarat...	OMIM:619355
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Axial hypotonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi...	OMIM:619653
Partington Syndrome	Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly	OMIM:309510
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Reduced leukocyte beta-glucuronidase activity, Anterior beaking ...	OMIM:253220
Developmental And Epileptic Encephalopathy 82	Short stature, Increased serum lactate, Inability to walk, Spastic tetraplegia, Spastic parapares...	OMIM:618721
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Inability to walk, Dystonia, Infantile muscular ...	ORPHA:457205
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ...	OMIM:614438
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Intrahepatic cholesta...	ORPHA:69663
Combined Oxidative Phosphorylation Deficiency 5	Axial hypotonia, Increased serum lactate, Hypotonia, Spastic tetraplegia, Growth delay, Lactic ac...	OMIM:611719
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Dystonia, Severe muscular hypotonia, Ataxi...	ORPHA:25
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Generalized hypotonia, Prolonged neonatal jaundice	OMIM:618512
Episodic Ataxia, Type 9	Episodic ataxia, Dystonia	OMIM:618924
Peroxisome Biogenesis Disorder 6B	Decreased liver function, Prolonged neonatal jaundice	OMIM:614871
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Abdominal distention, ...	OMIM:617156
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Short stature, Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Lactic...	ORPHA:1170
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ...	ORPHA:90154
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Striae distensae, Thin skin, Secondary amenorrhea	OMIM:610489
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Increased serum lactate	OMIM:617070
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Axial hypotonia, Short stature, Advanced ossification of carpal bones, Lumbar scoli...	OMIM:620269
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absenc...	OMIM:120330
Combined Oxidative Phosphorylation Deficiency 14	Increased serum lactate, Hypotonia, Copper accumulation in liver, Growth delay, Lactic acidosis, ...	OMIM:614946
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Scapular winging, Hyperlordosis, Increased serum lactate, Ragged-red muscle fibers,...	OMIM:600462
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Axial hypotonia, Spastic tetraparesis, Increased serum lactate, Hypotonia, Lactic acidosis, Dystonia	OMIM:617668
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature, Osteoporosis	ORPHA:2786
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Tremor, Hemolytic-uremic syndrome, Jaundice, Increased serum lactate, Prolonged neon...	OMIM:274150
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Ataxia, Increased serum lactate, Splenomegaly, Lactic acidosis, Metabolic acidosis, Generalized h...	OMIM:619046
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, He...	ORPHA:91138
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Abdominal distention, J...	ORPHA:469
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Umbilical hernia	OMIM:130080
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Imerslund-Grasbeck Syndrome 1	Somatic sensory dysfunction, Microscopic hematuria, Proteinuria, Paresthesia	OMIM:261100
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality of the uppe...	ORPHA:99885
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618497
Juvenile Nephropathic Cystinosis	Renal insufficiency, Elevated alkaline phosphatase of bone origin, Proteinuria, Chronic kidney di...	ORPHA:411634
Pontocerebellar Hypoplasia, Type 2C	Chorea, Dystonia	OMIM:612390
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Pontocerebellar Hypoplasia, Type 15	Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia	OMIM:619302
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis	ORPHA:182050
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Short st...	OMIM:309000
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Sparse scalp hair, Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital ...	OMIM:266920
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Increased serum lactate, Hypotonia, Generalized hypotonia, Dystonia, Spasticity	OMIM:616277
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertoni...	OMIM:261640
Bangstad Syndrome	Short stature, Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulat...	ORPHA:1227
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Br...	ORPHA:13
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Gait disturbance, Myoclonus, L...	ORPHA:508093
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Hepatitis, Feeding difficulties, ...	ORPHA:415
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macrogl...	ORPHA:79255
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia	ORPHA:31709
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Foot dorsiflexor weakness, Diaphragmatic paralysis, Hypotonia, Plantar f...	OMIM:620011
Recon Progeroid Syndrome	Thrombocytopenia, Hirsutism, Absent lower eyelashes, Thin skin, Anemia	OMIM:620370
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased serum lactate, Limb ataxia, Lactic acidosis, Metabolic acidosis, Generalized hypotonia,...	OMIM:619051
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Hypotonia, Lactic acidosis, Myopathy, Metabolic acidosis	ORPHA:91130
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Kyphosis, Hyperinsulinemia, Type II...	ORPHA:3085
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow	ORPHA:3406
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia...	ORPHA:324588
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Neonatal death, Increased variabili...	OMIM:614096
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypop...	OMIM:253010
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Thin...	OMIM:617602
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Ragged-red muscle fibers, Generalized amyotrophy, Generalized hypotonia, Neon...	OMIM:620351
Leukodystrophy, Hypomyelinating, 20	Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis, Dystonia	OMIM:619071
Hall-Riggs Syndrome	Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro...	OMIM:234250
Thanatophoric Dysplasia	Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus a...	ORPHA:2655
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Hypotonia, Hyperinsulinemia, Nep...	ORPHA:2849
Pontocerebellar Hypoplasia, Type 6	Appendicular spasticity, Lower limb spasticity, Axial hypotonia, Elbow contracture, Increased ser...	OMIM:611523
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Metachromatic Leukodystrophy	Ataxia, Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Chorea, Babinski sign, ...	OMIM:250100
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Chorea, Inability to walk, Abnormal ...	OMIM:607483
Combined Oxidative Phosphorylation Defect Type 27	Involuntary movements, Upper limb postural tremor, Increased serum lactate, Ragged-red muscle fib...	ORPHA:477774
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypotonia, Congenital h...	OMIM:619609
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Short stature, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,...	OMIM:614381
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor...	ORPHA:98759
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excr...	OMIM:607015
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Hypoplastic nipples, Thin skin...	OMIM:103285
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Flexion contracture, Generalized hypotonia	OMIM:618658
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Increased serum lactate, Lactic acidosis, Scoliosis, Spasticity	OMIM:619059
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia, Elbow contracture, Rigidity, Increased serum lactate, Hypotonia, Umbilical hernia, ...	OMIM:620275
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Splenomegaly, Hypothy...	OMIM:615846
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Scoliosis, Dystonia, Spasticity	OMIM:619616
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hepatomegaly, Micronodula...	ORPHA:404454
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o...	OMIM:617672
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Ataxia, Cerebral palsy, Splenomeg...	ORPHA:36412
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Synophrys, Widow's peak, Thin skin, Thin eyebrow, Cafe-au-lait spot	OMIM:617804
Hengel-Maroofian-Schols Syndrome	Foot joint contracture, Short stature, Inability to walk, Hypotonia, Tetraplegia, Gait imbalance,...	OMIM:619641
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short stature, Facial palsy, Urinary incontinence, Short neck, Kyphosis, Achille...	OMIM:301041
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Spastic tetraplegia, Dystonia	OMIM:618646
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Postnatal growth retardation, Inability to walk, Slurred speech, Hypotonia, Increased sus...	ORPHA:357058
Perrault Syndrome 5	Increased serum lactate, Positive Romberg sign, Hypergonadotropic hypogonadism, Ataxia	OMIM:616138
Marshall-Smith Syndrome	Generalized hirsutism, Thin skin	ORPHA:561
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hypotonia, Choreoathetosis, Dystonia, Pancreatitis	ORPHA:79312
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Kyphosis, Biliary tract abnormality, Type II diabetes mellitus, Scolio...	ORPHA:3191
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Head titubation, Increased serum lactate, Hypotonia, Metabolic acidosis, Truncal ataxia...	ORPHA:88639
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion ...	OMIM:259450
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis	ORPHA:375
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Hepatomegaly, Ataxia, Tremor, Increased serum lactate, Patent du...	OMIM:610505
Leukoencephalopathy, Cystic, Without Megalencephaly	Athetosis, Spasticity, Ataxia, Dystonia	OMIM:612951
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Recurre...	ORPHA:251004
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Skin nodule, Thin skin, Dermal atrophy, Sparse hair, Keloids, Joint contracture, Fle...	OMIM:601812
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypoton...	OMIM:618877
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276241
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Poor suck	OMIM:614886
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Hypotonia, Lactic acidosis, Metabolic a...	OMIM:615824
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture	OMIM:612138
Cerebrooculofacioskeletal Syndrome 1	Axial hypotonia, Kyphoscoliosis, Insulin resistance, Flexion contracture, Elbow flexion contractu...	OMIM:214150
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Babinski sign, Hand tremor, Dystonia, Spasticity, Apraxia	OMIM:615889
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Facial palsy, Ataxia, Rigidity, Head titubation, Babinski sign, Choreo...	OMIM:608804
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Hype...	ORPHA:2617
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased serum lactate, Patent ductus arteriosus, Hematuria, Lactic acidosis, Metabolic acidosis...	OMIM:617021
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Decreased methionine synthase activity, Methylmalonic acidemia, Hypotonia, Methyl...	OMIM:277410
Rett Syndrome	Skeletal muscle atrophy, Short stature, Kyphosis, Gait apraxia, Truncal ataxia, Gait ataxia, Scol...	OMIM:312750
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Optic Atrophy 11	Short stature, Ataxia, Increased serum lactate, Splenomegaly, Gait apraxia, Hypotonia, Dysmetria,...	OMIM:617302
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ataxia, Limb ataxia, Li...	OMIM:617560
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cystic ang...	OMIM:269700
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Increased serum lactate, Hypotonia, Metabolic acidosis, Myoclonus, Spasticity	OMIM:618225
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Nephrotic syndrome, Breast aplas...	ORPHA:238468
Amish Lethal Microcephaly	Hepatomegaly, Spina bifida, Limitation of joint mobility, Osteoporosis, Hypotonia, Metabolic acid...	ORPHA:99742
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Hypotoni...	OMIM:614105
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H...	OMIM:156530
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Jaundice, Increased variability in muscle fiber diameter, Gout, I...	OMIM:232800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Short stature, Hypospadias, Flexion contracture, Abnormal pyramidal sign, Hypot...	OMIM:618891
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low poste...	OMIM:617506
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Limb-girdle mu...	ORPHA:171436
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Bone cyst	ORPHA:2668
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:608779
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,...	ORPHA:1366
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Short st...	ORPHA:1667
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Hypotonia, ...	OMIM:614300
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hypothyroidism, Tendon...	ORPHA:412
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Inguinal hernia, Thin skin, Thick eyebrow	ORPHA:230851
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,...	OMIM:619738
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Axial hypotonia, Short stature, Proteinuria, At...	OMIM:251300
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Hypotonia, Dystonia	OMIM:620359
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Ataxia, Hypoglycemia, Hypotonia, Lactic acidosis, Hype...	OMIM:248600
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Breast aplasia, Thi...	ORPHA:90153
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Short stature, Renal agenesis, Hypergonadotropic hypogonadism, Ecto...	OMIM:227646
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:276556
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr...	ORPHA:247598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Leukodystrophy, Hypomyelinating, 15	Severe short stature, Ataxia, Abnormal pyramidal sign, Athetosis, Dystonia, Loss of ambulation, S...	OMIM:617951
Cimdag Syndrome	Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Hypotonia, Hypogonadism, Dystonia...	OMIM:619273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G...	OMIM:157640
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
Acth-Independent Macronodular Adrenal Hyperplasia	Thin skin, Striae distensae	OMIM:219080
Lysinuric Protein Intolerance	Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ...	ORPHA:470
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Short stature, Hypertriglyceridemia, Hypog...	OMIM:307030
Spondylometaphyseal Dysplasia, Kozlowski Type	Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Cervical plat...	ORPHA:93314
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Abnormal mesen...	ORPHA:284
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Lacticaciduria, Increased serum lactate	OMIM:619063
Congenital Macroglossia	Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Hypopigmentation of hair, Ureteral stenosis, Cryptorchidism, Thin skin, Anemia	ORPHA:2719
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I...	ORPHA:347
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Pyridoxal Phosphate-Responsive Seizures	Axial hypotonia, Hypoglycemia, Increased serum lactate, Unsteady gait, Metabolic acidosis, Hypert...	ORPHA:79096
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Chore...	ORPHA:209905
Bilateral Generalized Polymicrogyria	Axial hypotonia, Short stature, Oculogyric crisis, Spastic tetraplegia, Eyelid myoclonus, Growth ...	ORPHA:208447
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pituitary grow...	ORPHA:730
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Short stature, Renal agenesis, Hypergonadotropic hypogonadism, Ecto...	OMIM:227650
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal...	ORPHA:309854
Gaucher Disease	Osteopenia, Tremor, Osteoarthritis, Hepatomegaly, Increased bone mineral density, Short stature, ...	ORPHA:355
Fucosidosis	Hepatomegaly, Decreased muscle mass, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal...	ORPHA:349
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib...	ORPHA:368
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi...	ORPHA:119
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyp...	ORPHA:3409
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Hypotonia, Ab...	ORPHA:628
Papa Syndrome	Myositis, Proteinuria, Limitation of joint mobility, Arthritis, Type I diabetes mellitus	ORPHA:69126
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented...	ORPHA:2907
Nail-Patella Syndrome	Back pain, Biceps aplasia, Lumbar hyperlordosis, Short stature, Renal insufficiency, Proteinuria,...	OMIM:161200
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short stature, Increased serum lactate, Myoclonus, Generalized hypotonia, Chromosomal breakage in...	OMIM:619060
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Generalized hypotonia, Dystonia...	OMIM:617493
Filippi Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Dystonia	OMIM:272440
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Kyphosis, Patent ductus arteriosus, Spastic tetraplegia, In...	OMIM:619909
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy, Ataxia	OMIM:275630
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Increased bone mineral density, Proteinuria, Osteomyelitis, Splenom...	ORPHA:77297
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Increased bone mineral density, Cortical scl...	OMIM:620366
Xeroderma Pigmentosum	Macule, Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic ...	ORPHA:910
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Osteopenia, Impaired glucose tolerance, Joint stiffness, Postnatal grow...	OMIM:248370
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Pyruvate Carboxylase Deficiency	Elevated lactate:pyruvate ratio, Hepatomegaly, Ataxia, Hypoglycemia, Tremor, Increased serum lact...	ORPHA:3008
Sepsis In Premature Infants	Hepatomegaly, Abdominal distention, Gastrointestinal dysmotility, Jaundice, Diarrhea, Enterocolit...	ORPHA:90051
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Cadds	Elevated hepatic transaminase, Cholangitis, Adrenal hypoplasia, Cholestasis, Dystonia, Intrauteri...	ORPHA:369942
Acquired Purpura Fulminans	Hepatic failure	ORPHA:49566
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tr...	OMIM:251100
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper...	OMIM:615905
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait dist...	ORPHA:289560
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Short stature, Clonus, Increased serum lactate, Babinski sign, Spastic tetraplegi...	OMIM:619847
Fabry Disease	Renal insufficiency, Proteinuria, Elevated circulating globotriaosylceramide concentration, Urina...	OMIM:301500
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Dyschondrosteosis-Nephritis Syndrome	Short stature, Proteinuria, Nephropathy, Hematuria, Mesomelic short stature, Intrauterine growth ...	ORPHA:1765
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Growth delay, Nephrocalcinosis, Metabolic acidosis, Distal renal tubular...	OMIM:602722
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Inability to w...	ORPHA:505248
Kleefstra Syndrome 2	Kyphosis, Hypotonia, Growth delay, Scoliosis, Generalized hypotonia	OMIM:617768
Tyrosinemia, Type Iii	Elevated hepatic transaminase	OMIM:276710
Developmental And Epileptic Encephalopathy 17	Inability to walk, Athetosis, Chorea, Dystonia	OMIM:615473
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Bone marrow hy...	OMIM:612199
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Metabolic ketoacidosis, Hypotonia, Stage 5 ch...	OMIM:251000
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Short stature, Renal agenesis, Hypergonadotropic hypogonadism, Ecto...	OMIM:600901
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Gait disturbance, Scoliosis	ORPHA:2429
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi...	ORPHA:3454
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Infantile axial hypotonia, Urinary incontinence, Parkinsonism, Chorea, ...	ORPHA:225147
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Desbuquois Dysplasia 1	Waddling gait, Joint laxity, Severe short stature, Short neck, Hyperlordosis, Kyphosis, Osteoarth...	OMIM:251450
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram...	ORPHA:309246
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Short stature, Pro...	OMIM:619127
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d...	ORPHA:79474
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypospadias, Joint stiffness, Kyphosis, Hypotonia, Scoliosis	ORPHA:1548
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum lactate, Myoglobinuria, Renal insufficiency, Rhabdomyolysis	ORPHA:2364
Glass Syndrome	Inguinal hernia, Long eyelashes, Thin skin, Camptodactyly, Sparse hair	OMIM:612313
Marden-Walker Syndrome	Decreased muscle mass, Hypospadias, Short neck, Postnatal growth retardation, Kyphosis, Hypotonia...	OMIM:248700
Schaaf-Yang Syndrome	Short stature, Kyphosis, Inability to walk, Flexion contracture, Hypogonadism, Scoliosis, Camptod...	OMIM:615547
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsines...	OMIM:277460
Christianson Syndrome	Decreased muscle mass, Dystonia, Gait ataxia, Joint hyperflexibility, Truncal ataxia, Arthrogrypo...	ORPHA:85278
Mucolipidosis Iii Gamma	Short stature, Increased iduronate sulfatase level, Hyperlordosis, Short neck, Kyphosis, Joint st...	OMIM:252605
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Short stature, Hypotonia	ORPHA:369873
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Chorea...	OMIM:300842
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Clonus, Babinski sign, Progressive cerebellar ataxia, Prolonged neonatal ja...	OMIM:618868
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized...	OMIM:233910
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Hypotonia, Metabolic acidosis, Hypertonia, Myoclonus	OMIM:617290
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Limited wrist extension, Kyphosis, Hypertonia, Firm muscles...	OMIM:108145
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Neurogenic bladder, Axial hypotonia, Short stature, Dystonia, Joint cont...	OMIM:617762
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Generalized hypotonia, Abnormal cortical bone morphology, Joi...	OMIM:300831
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Skeletal m...	OMIM:602124
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal tubulointerstitial morpho...	ORPHA:411629
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Hypospadias, Increased serum lactate, Hypotonia, Tetraplegia, Opisthoton...	OMIM:619272
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E...	ORPHA:100078
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276244
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Axial hypotonia, Increased serum lactate, Spastic diplegia, Lactic acidosis, Tetraparesis	ORPHA:255182
Mohr-Tranebjaerg Syndrome	Tremor, Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Dystonia, Spasticity	OMIM:304700
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Growth de...	OMIM:210900
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,...	ORPHA:280219
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Joint stiffness, Tremor, Kyphosis, Inability to walk, ...	OMIM:617988
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Hepatomegaly, Short stature, Generalized hypotonia, Dystonia, Hypothyroidism	OMIM:607906
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
15Q24 Microdeletion Syndrome	Joint laxity, Short stature, Hypospadias, Congenital diaphragmatic hernia, Decreased response to ...	ORPHA:94065
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Elevated alkaline phosphatase of bone origin...	OMIM:615363
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Postural tremor, Ataxia, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Babinski sign, Scissor gait, Defective DNA repair after ultraviolet...	OMIM:278800
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal...	ORPHA:99027
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait ataxia, Clumsiness, 3-Methyl...	OMIM:619259
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis...	OMIM:619797
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:151660
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Increased serum lactate, Unsteady gait, Dysmetria, Titubation, Increased circulat...	OMIM:619405
Primary Dystonia, Dyt4 Type	Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Kyphoscolio...	ORPHA:98805
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac...	OMIM:261515
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Pediatric Systemic Lupus Erythematosus	Dark urine, Myositis, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis,...	ORPHA:93552
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Short stature, Dystonia, Diabetes i...	OMIM:225750
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Myopathy, Lactic acidosis, Generalized hypotonia	OMIM:618236
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:305100
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata...	ORPHA:171
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal pyramidal sign, Thoracic kyphosis, Hypothyroidism, Abnormality of the verteb...	ORPHA:909
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Parkinsonism, Abnormality of the thyroid gland, Increased serum lactate, Ragge...	OMIM:609286
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Elevated circulating alkaline...	ORPHA:330001
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Microvesicular hepatic steatosis, Grade II vesicoureteral reflu...	OMIM:619377
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Dystonia, Multiple glomerular cysts, Ataxia, Abnormality of Krebs cycle metabolism,...	ORPHA:255210
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Ketoaci...	ORPHA:261476
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Lcat Deficiency	Renal insufficiency, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney disease, Acute kid...	ORPHA:650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hypoglycemia, Kyphoscoliosis, Patent ductus arteriosus, Hypotonia, Nep...	OMIM:618005
De Barsy Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, Thin skin, Sparse hair, Umbilical hernia	ORPHA:2962
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia	OMIM:616455
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Abnormality of the kidney, Kyphosis, Patent ductus arteriosus, Limi...	ORPHA:93274
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Hypotonia, Lactic acidosis, Proximal tubul...	ORPHA:2609
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Exercise-induced myoglobinuria, A...	ORPHA:284426
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Splenomegaly, Cirrhosis, H...	ORPHA:465508
Developmental And Epileptic Encephalopathy 51	Elevated lactate:pyruvate ratio, Skeletal muscle atrophy, Increased serum lactate, Inability to w...	OMIM:617339
Geroderma Osteodysplastica	Thin skin, Hernia	ORPHA:2078
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Ataxia, Tremor, Rhabdomyolysis, Myopathy, Myoglobinuria	ORPHA:713
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri...	ORPHA:227510
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyeb...	ORPHA:1807
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis,...	OMIM:616140
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Tremor, Kyphosis, Pr...	OMIM:300966
Srd5A3-Cdg	Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone stimulation test, Kyp...	ORPHA:324737
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule	ORPHA:525
Mucopolysaccharidosis, Type Ii	Decreased iduronate sulfatase level, Hepatomegaly, Severe short stature, Short stature, Short nec...	OMIM:309900
Bronchial Neuroendocrine Tumor	Hepatomegaly, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure	ORPHA:97287
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Fractures of the long ...	ORPHA:496641
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Ragged...	ORPHA:352447
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Nodular regenerative hyperplasia of liver, Nephropathy, Hemiparesis, Elevated circul...	ORPHA:247691
Beta-Propeller Protein-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis	ORPHA:329284
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Striae distensae, Dorsocervical fat pad, Leu...	ORPHA:96253
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan...	ORPHA:79644
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul...	OMIM:605814
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Low cholesterol esterification rate, Dysphagia, Pro...	OMIM:257220
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short statur...	OMIM:239000
Lesch-Nyhan Syndrome	Short stature, Hypotonia, Nephrolithiasis, Opisthotonus, Choreoathetosis, Nephrocalcinosis, Hyper...	OMIM:300322
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Difficulty walking, Dystonia	ORPHA:79097
Continuous Spikes And Waves During Sleep	Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia	ORPHA:725
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph...	ORPHA:2311
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Pain insensitivity, Axial hypotonia, Facial hypotonia, Short stature, Kyphosis, Bab...	ORPHA:364028
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Proteinuria, Ataxia, Splenomegaly, Osteolysis, Incr...	ORPHA:77261
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Thin skin	OMIM:112250
Cockayne Syndrome A	Hepatomegaly, Hip contracture, Renal insufficiency, Short stature, Proteinuria, Ataxia, Tremor, S...	OMIM:216400
Neurodevelopmental Disorder With Spasticity And Poor Growth	Axial hypotonia, Short stature, Generalized dystonia, Clonus, Ataxia, Patent ductus arteriosus, A...	OMIM:618076
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Proteinuria, Sagittal craniosynostosis, Hematuria, Tubulointerstitial nephritis	OMIM:616901
Aapoaiv Amyloidosis	Back pain, Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial ...	ORPHA:439232
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Increased serum lactate, Babinski sign, Hypotonia, Renal tubular dysfunction, Lactic acid...	OMIM:616539
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, Hypotonia, Generalized hypotonia, Dystonia	OMIM:617268
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Ataxia, Proteinuria, Generalized hypotonia	OMIM:603585
Metachromatic Leukodystrophy, Late Infantile Form	Dystonia, Urinary incontinence, Babinski sign, Gait ataxia, Clumsiness, Progressive gait ataxia, ...	ORPHA:309256
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Liver Disease, Severe Congenital	Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H...	OMIM:619991
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Congenital Disorder Of Deglycosylation 1	Chorea, Dysmetria, Hepatic fibrosis, Chondroitin sulfate excretion in urine, Hepatomegaly, Pain i...	OMIM:615273
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hepati...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hepati...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hepati...	ORPHA:99226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Ataxia, Tremor, Increased serum lactate, Hypotonia, Growth delay, Lactic acidosis, 3...	OMIM:614052
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Panniculitis	ORPHA:33577
Turner Syndrome	Osteopenia, Short neck, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hepati...	ORPHA:881
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure	ORPHA:159
Mirizzi Syndrome	Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J...	ORPHA:521219
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Inability to walk, Spastic paraplegia, Flexion contractur...	OMIM:609541
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Proteinuria, Oculogyric crisis, ...	ORPHA:94093
Arterial Tortuosity Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Thin skin, ...	OMIM:208050
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Pancreatitis, Hypoglycemia	OMIM:620137
Hereditary Renal Hypouricemia	Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithi...	ORPHA:94088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Unsteady gait, Gait ataxia, Ne...	OMIM:254900
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:85317
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unsteady gait, Limb tremor,...	ORPHA:420492
Emanuel Syndrome	Torticollis, Sacral dimple, Recurrent urinary tract infections, Congenital diaphragmatic hernia, ...	OMIM:609029
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Short stature, Ataxia, Ragged-red muscle fibers, Primary a...	OMIM:530000
Spinocerebellar Ataxia 21	Postural tremor, Ataxia, Parkinsonism, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro...	OMIM:607454
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Pycnodysostosis	Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral density, Rhizo...	ORPHA:763
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:276621
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate, Hypotonia, Lactic acidosi...	OMIM:604377
Hypokalemic Tubulopathy And Deafness	Acidosis, Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Multiple System Atrophy	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:102
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Impaired glucose tolerance, Facial palsy, Increased serum lactate,...	OMIM:610131
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Micropenis, Hepatic st...	OMIM:619475
Legionnaires Disease	Renal insufficiency, Proteinuria, Ataxia, Splenomegaly, Jaundice, Hepatitis, Hematuria, Pancreatitis	ORPHA:549
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy,...	ORPHA:534
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis congenita, Enamel hypoplasia, Milia, ...	ORPHA:79411
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Proteinuria, Micronodular cirrhosis, Hematuria, Hemiparesis, Apraxia	OMIM:192315
Aromatase Deficiency	Osteopenia, Hypergonadotropic hypogonadism, Hyperlipidemia, Insulin resistance, Delayed epiphysea...	ORPHA:91
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Knee flexion contracture, Thin skin, Camptodactyly, Sparse hair, Contr...	OMIM:601559
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Metabolic alkalosis, Increased serum lactate, Ragged-red muscle fibers, ...	OMIM:616239
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Hypotonia, Growth delay, Scoliosis, Intrauterine growth retardation	ORPHA:238750
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi...	OMIM:618598
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Short stature, Proteinuria, Hypotonia, Stage 5 chronic kidney diseas...	OMIM:617729
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:29072
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Babinski sign, Clumsiness, Abnormal glycosphingolipid metabolism, Progressi...	ORPHA:309263
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Ohdo Syndrome	Joint laxity, Short stature, Proteinuria, Hypotonia, Generalized hypotonia	OMIM:249620
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Short stature, Pancreatic fibrosis, Proteinuria, P...	OMIM:208500
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Gait distu...	ORPHA:488627
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ...	OMIM:183900
Metachromatic Leukodystrophy, Adult Form	Dystonia, Urinary incontinence, Chorea, Babinski sign, Neoplasm of the gallbladder, Clumsiness, P...	ORPHA:309271
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Increased circulating lactate dehydrogenase concentration, Myoglobinuria, Acute kidney injury, Ac...	OMIM:268200
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas...	ORPHA:178148
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Patent ductus art...	OMIM:214100
Infantile Neuroaxonal Dystrophy	Axial hypotonia, Ataxia, Spastic tetraparesis, Flexion contracture, Abnormal pyramidal sign, Unst...	ORPHA:35069
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Stage 5 chronic kidne...	OMIM:608612
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Adams-Oliver Syndrome 4	Umbilical hernia, Aplasia cutis congenita	OMIM:615297
Late-Infantile/Juvenile Krabbe Disease	Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis	OMIM:179830
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hypotonia, Metabolic acidosis	OMIM:229700
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Ataxia, Exercise-induced myoglobinuria, Rhabdomyolysis, Myopathy	OMIM:300653
Hyperglycinemia, Lactic Acidosis, And Seizures	Increased serum lactate, Hypotonia, Spastic tetraplegia, Growth delay, Lactic acidosis, Myoclonus...	OMIM:614462
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa...	ORPHA:70
Shigellosis	Anorexia, Abdominal pain, Cholestasis, Bloody diarrhea, Paralytic ileus, Bloody mucoid diarrhea, ...	ORPHA:810
Ruvalcaba Syndrome	Kyphosis, Abnormal localization of kidney, Hematuria, Scoliosis, Delayed puberty, Intrauterine gr...	ORPHA:3121
Epidermolysis Bullosa, Junctional 1B, Severe	Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Milia	OMIM:226700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Increased serum lactate, Hypotonia	OMIM:619064
Zellweger Syndrome	Hepatomegaly, Feeding difficulties in infancy, Cryptorchidism, Jaundice, Hepatic failure	ORPHA:912
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower li...	ORPHA:88628
Estrogen Resistance Syndrome	Osteopenia, Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin...	ORPHA:785
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Oculomotor apraxia, Spasticity, ...	OMIM:618087
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Distal Triplication 15Q	Abnormality of the kidney, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contract...	ORPHA:314588
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Short stature, Increased serum lactate, ...	OMIM:619743
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Unilateral ren...	ORPHA:2260
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Joint laxity, Torticollis, Thoracic scoliosis, Kyphoscoliosis, Postnatal growth r...	ORPHA:300570
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Micropenis, H...	ORPHA:51
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:98933
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy...	ORPHA:1454
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Dystonia, Tremor, Splenomegaly, Jaundice, Kyphosis, Unsteady gait, Hypot...	OMIM:615512
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypoplasti...	ORPHA:3455
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Hypotonia, Dystonia	OMIM:619157
Arthrogryposis Multiplex Congenita 5	Kyphoscoliosis, Short neck, Akinesia, Flexion contracture, Elbow flexion contracture, Hand tremor...	OMIM:618947
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia,...	ORPHA:98760
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Glycogen Storage Disease X	Myopathy, Renal insufficiency, Rhabdomyolysis, Myoglobinuria	OMIM:261670
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Chorea, Generalized hypotonia, Dystonia, Spasticity, Hypothyroidism	OMIM:613970
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dystonia, Dysuria, Gout, Hyperuricosuria, Abnormality of extrapyramidal moto...	ORPHA:79233
Developmental And Epileptic Encephalopathy 67	Athetosis, Gait disturbance, Dystonia	OMIM:618141
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Diarrhea, Hepatosplen...	ORPHA:79124
Xeroderma Pigmentosum, Complementation Group A	Ataxia, Defective DNA repair after ultraviolet radiation damage, Distal sensory impairment, Chore...	OMIM:278700
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky...	OMIM:615084
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Skeletal muscle atrophy, Elevated lactate:pyruvate ...	OMIM:252010
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Numerous nevi, Cryptorchidism, F...	ORPHA:536471
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Ataxia, Postnatal growth re...	OMIM:133540
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Myoglobinuria, Rhabdomyolysis, Mixed respiratory and metabolic acidosis	OMIM:145600
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Chor...	ORPHA:2162
Bruck Syndrome	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli...	ORPHA:2771
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis, Hypotonia	OMIM:619012
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis	OMIM:134610
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia, Urinary incontinence, Dystonia	OMIM:105300
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Abnormal me...	ORPHA:2075
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Preauricular skin tag, Thin skin, Sparse eyebrow	OMIM:244450
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Progressive spas...	OMIM:207800
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis	ORPHA:292
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Axial hypotonia, Ataxia, Spastic tetraparesis, Increased serum lactate, Babinski sign, Lactic aci...	OMIM:615838
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Inguinal hernia, Hydroureter, Hypogonadotropic hypogonadism, Sparse eyelashes,...	OMIM:129900
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Prader-Willi Syndrome	Osteopenia, Decreased muscle mass, Short stature, Hypogonadotropic hypogonadism, Decreased respon...	OMIM:176270
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp...	OMIM:618451
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired ...	OMIM:606002
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Abdominal distention, He...	OMIM:235255
Micro Syndrome	Hypoplasia of penis, Short stature, Joint stiffness, Kyphosis, Hypotonia, Abnormal localization o...	ORPHA:2510
Hurler Syndrome	Hepatomegaly, Short stature, Short neck, Heparan sulfate excretion in urine, Splenomegaly, Hypopl...	OMIM:607014
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi...	OMIM:211530
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Ataxia, Hypoglycemia, Tremor, Microvesicular hepatic steatosis, Increased...	OMIM:220111
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity	OMIM:618917
Mucopolysaccharidosis Type 4	Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral d...	ORPHA:582
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hepatic failure, Feeding difficulties	OMIM:619758
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyr...	OMIM:614298
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Monosomy 13Q34	Growth delay, Fetal pyelectasis, Insulin resistance, Hepatic steatosis	ORPHA:96168
Leprechaunism	Hepatomegaly, Skeletal muscle atrophy, Axial hypotonia, Postnatal growth retardation, Insulin res...	ORPHA:508
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Cryptorchidism, Elbow flexion contracture, Knee flexion contracture...	OMIM:151050
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Inability ...	OMIM:618443
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypotonia, Metabolic acidosis, Lactic acidosis, Left ventricular noncom...	OMIM:616501
Liang-Wang Syndrome	Macroglossia, Axial hypotonia, Ataxia, Dystonia	OMIM:618729
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,...	ORPHA:920
Donnai-Barrow Syndrome	Umbilical hernia, Proteinuria, Congenital diaphragmatic hernia	ORPHA:2143
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy...	ORPHA:85443
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow move...	ORPHA:94068
Mcdonough Syndrome	Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Scoliosis	ORPHA:2471
X-Linked Creatine Transporter Deficiency	Short stature, Ataxia, Chorea, Hypotonia, Athetosis, Joint hyperflexibility, Hypertonia, Dystonia	ORPHA:52503
Meier-Gorlin Syndrome 1	Cryptorchidism, Flexion contracture, Long eyelashes, Thin skin, Camptodactyly, Micropenis, Joint ...	OMIM:224690
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Elevated circulating alkaline...	OMIM:618268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Lower limb spasticity, Axial hypotonia, Hip contractu...	OMIM:300868
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Horizontal sacrum, Scoliosis, Calvarial hyperostosis	OMIM:112350
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod...	OMIM:150400
Smith-Mccort Dysplasia 1	Waddling gait, Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of t...	OMIM:607326
Cofs Syndrome	Short stature, Camptodactyly of finger, Short neck, Joint stiffness, Hypotonia, Hypertonia, Hypog...	ORPHA:1466
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Urinary incontinence, Spastic tetraparesis, Kyphosis...	ORPHA:171629
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused...	ORPHA:2522
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Hepatitis, Elevated hepatic transaminase	ORPHA:139402
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Kypho...	ORPHA:97349
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Flexion contracture, Babinski sign, Facial diplegia, Dystonia, Neonatal d...	OMIM:618186
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Hypoglycemia, Hem...	ORPHA:79282
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morpho...	ORPHA:2461
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive...	ORPHA:2728
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma...	ORPHA:209902
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spasticity	OMIM:617807
Filippi Syndrome	Severe short stature, Short stature, Limitation of joint mobility, Hypotonia, Paraplegia, Growth ...	ORPHA:3255
Rabson-Mendenhall Syndrome	Increased pineal volume, Short stature, Impaired glucose tolerance, Precocious puberty, Insulin-r...	ORPHA:769
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Opisthotonus, Hypertonia, Generalized hyp...	ORPHA:508533
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hypotonia, Methylmalonic aciduria, Metabolic aci...	OMIM:251110
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Urinary incontinence, In...	ORPHA:512
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Short stature, Tarsal synostosis, Proteinuria, Renal hypoplasia	ORPHA:1307
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Thin skin, Hiatus hernia	ORPHA:3342
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ataxia, Increased serum lactate, Ragged-red muscle fibers, Slurred speech, Gait disturbance	ORPHA:1349
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Pain insensitivity, Axial hypotonia, Increased serum lactate, Abnormal pyramidal sign, Hypotonia,...	OMIM:614388
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Hypotonia...	OMIM:616294
Trisomy 13	Displacement of the urethral meatus, Kyphosis, Patent ductus arteriosus, Abnormality of the urete...	ORPHA:3378
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss	ORPHA:1332
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, He...	ORPHA:1655
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin...	ORPHA:257
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Multiple joint contractures, Dentinogenesis imperfecta, Thin skin	ORPHA:536467
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Williams Syndrome	Osteopenia, Hypoplasia of penis, Tremor, Abnormal form of the vertebral bodies, Abnormal tubuloin...	ORPHA:904
Retinitis Pigmentosa	Hypogonadism, Hypoplasia of penis, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal death, Hepatic failure	OMIM:608013
Stiff Skin Syndrome	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy, Nephrolithiasis	ORPHA:2833
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Increased serum lactate, Hypotonia, Micropenis, Hypocholesterolemia, Neonatal death...	OMIM:618810
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Impaired vibration sensation in the lower limbs, Generalized limb muscle...	ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Pseudoachondroplasia	Waddling gait, Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odont...	OMIM:177170
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Short stature, Chorea, Blepharospasm, Limb dystonia, Intrauterine growth retarda...	OMIM:616339
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Osteopenia, Dystonia, Parkinsonism, Rigidity, Fractures of the long bone...	ORPHA:157850
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Babinski sign, Elbow flexion contracture, Hypotonia, Focal dystonia, Spastic dys...	ORPHA:447757
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Skin vesicle, Sparse hair, Mac...	ORPHA:1775
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph...	ORPHA:416
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Hepatosplenome...	ORPHA:228426
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Patent ductus...	ORPHA:33001
Fumarase Deficiency	Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepat...	OMIM:606812
Developmental And Epileptic Encephalopathy 86	Generalized amyotrophy, Generalized hypotonia, Dystonia	OMIM:618910
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Flexion contracture, Abnormal pyramidal sign, Hypotonia, Myopathy, Ethylmalonic aciduria,...	OMIM:201470
Ruvalcaba Syndrome	Short stature, Kyphosis, Scoliosis, Delayed puberty, Limited elbow extension	OMIM:180870
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Patent ductus arteriosus, Hypotonia, Joint contracture of the 5th finger, I...	OMIM:619934
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Ataxia, Kyphosis, Hypotonia, Joint hyperflexibility, Scoliosis, Hyperc...	ORPHA:2479
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Familial Paroxysmal Ataxia	Hemiplegia, Torticollis, Ataxia, Dystonia	ORPHA:97
Trisomy 20P	Incoordination, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Short neck, Spin...	ORPHA:261318
Lactase Deficiency, Congenital	Metabolic acidosis, Decreased small intestinal mucosa lactase level	OMIM:223000
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Spasticity, Ataxia, Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized h...	OMIM:612300
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ...	ORPHA:227990
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Short stature, Recurrent fractures, Increased serum lactat...	OMIM:222700
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal art...	OMIM:609128
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Babinski sign, Choreoathetosis, Viral infection-induced rhabdomyolysis, Lowe...	ORPHA:2524
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Generalized hypotonia, Polycystic kidney ...	OMIM:608776
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Spleno...	ORPHA:1328
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, Hypertonia,...	ORPHA:1545
Spinocerebellar Ataxia Type 6	Incoordination, Unsteady gait, Babinski sign, Gait ataxia, Blepharospasm, Progressive cerebellar ...	ORPHA:98758
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Lissencephaly 7 With Cerebellar Hypoplasia	Increased serum lactate, Arthrogryposis multiplex congenita, Neonatal death, Short neck	OMIM:616342
Aymé-Gripp Syndrome	Short stature, Proteinuria, Congenital diaphragmatic hernia, Craniosynostosis, Postnatal growth r...	ORPHA:1272
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Increased serum lacta...	OMIM:620358
Ataxia-Telangiectasia	Dystonia, Short stature, Diabetes mellitus, Female hypogonadism, Ataxia, Tremor, Inability to wal...	OMIM:208900
Cardiomyopathy, Dilated, 2C	Increased serum lactate, Hypotonia	OMIM:618189
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypertonia, Generalized hypotonia, Hypocholesterolemia, Micropenis, Hepatic steatosis...	OMIM:270400
Glucose/Galactose Malabsorption	Metabolic acidosis, Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Axial hypotonia, Severe muscular hypotonia, Increased serum lactate, Hypotonia, Myoclonus, Type 1...	OMIM:612949
Acute Liver Failure	Elevated hepatic transaminase, Pain insensitivity, Incoordination, Ataxia, Hypoglycemia, Acidosis...	ORPHA:90062
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased serum lactate, Spasticity, Axial hypotonia, Limb hypertonia	OMIM:619170
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hypothyroid...	ORPHA:1606
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis	OMIM:619053
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Sparse scalp hair, Striae distensae, Pancreatic adenocarcinoma,...	ORPHA:99889
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Joint hyperflexibility, Gait disturbance, Scoliosis, Hemiplegia, Umbilical hernia	ORPHA:2181
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve...	OMIM:619040
Pontocerebellar Hypoplasia, Type 2B	Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Opisthotonus, Extrapyramidal dyskinesi...	OMIM:612389
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Ataxia, Increased serum lactate, Hypotonia, Distal sensory impairment, F...	OMIM:613559
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of mass...	ORPHA:423
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Elevated circula...	OMIM:610978
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Increased skull ossification, Craniofacial ...	OMIM:618476
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Nail dys...	OMIM:300887
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy...	ORPHA:449395
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Bladder diverticulum, Molluscoid pseudotumors, Thin skin, Decreased urinary lysy...	OMIM:225400
Alexander Disease	Osteopenia, Diabetes mellitus, Ataxia, Facial palsy, Clonus, Hyperlordosis, Tremor, Short neck, K...	ORPHA:58
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, GM2-gangl...	OMIM:272750
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Neurogenic bladder, Short stature, Short neck, Kyphosis,...	OMIM:130720
Cornelia De Lange Syndrome 1	Short stature, Hypospadias, Congenital diaphragmatic hernia, Short neck, Ectopic kidney, Proteinu...	OMIM:122470
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodystrophy, ...	ORPHA:1979
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Dystonia, Limb hypertonia	OMIM:618004
Adams-Oliver Syndrome 5	Inguinal hernia, Aplasia cutis congenita, Portal vein thrombosis, Hypersplenism, Splenomegaly, Cu...	OMIM:616028
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis, Dystonia	OMIM:300857
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ...	ORPHA:227982
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Axial hypotonia, Short stature, Hypotonia, Hypertonia, Gait dis...	OMIM:300352
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:1858
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate, Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscl...	ORPHA:663
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, ...	ORPHA:261197
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr...	OMIM:259420
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Weismann-Netter Syndrome	Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ...	ORPHA:3344
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Streak ovary, Decreased response to growt...	ORPHA:3464
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Short stature, Kyphosis, Macroglossia, Scoliosis	ORPHA:79107
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:171695
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Decreased response to growth hormone stimulation test, ...	ORPHA:64
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Myositis, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hematuria, Tu...	ORPHA:183
Restrictive Dermopathy 1	Ureteral duplication, Sparse eyelashes, Limb joint contracture, Short nail, Hypospadias, Absent e...	OMIM:275210
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v...	ORPHA:800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Increased serum lactate, Myelopathy, Hypotonia, Lactic aci...	OMIM:617186
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Increased serum lactate, Generalized hypotonia	OMIM:618378
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, At...	ORPHA:2750
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Precocious puberty, Growth delay, Platyspondyly, Scolios...	OMIM:619269
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Dystonia-Deafness Syndrome 1	Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Leg dystonia, Pseudobulbar paralysis, Lo...	OMIM:607371
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generaliz...	ORPHA:93360
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Chorea, Hemiparesis, Dystonia, Neonatal hypotonia, Hypothyroidism	OMIM:618829
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Rhabdomyolysis	OMIM:232600
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Disproportionate sho...	ORPHA:583
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, K...	OMIM:618291
3C Syndrome	Hypoplasia of penis, Short stature, Hypospadias, Adrenal hypoplasia, Short neck, Postnatal growth...	ORPHA:7
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Abnormal circulating enzyme concentration or activity, Broad...	ORPHA:79244
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Lipoatrophy, Sp...	OMIM:264090
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis, Spasticity, Ketonuria, Methylmalonic aciduria	OMIM:251120
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Short stature, Short neck, Kyphosis, Limitation of joint mobility, Abnormal form of t...	ORPHA:3098
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Hereditary Methemoglobinemia	Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity	ORPHA:621
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Metabolic acidosis, Hyperactive renin-angiotensin system, Pseudohypoaldostero...	OMIM:264350
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gait ataxia, Limb ...	ORPHA:646
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste...	ORPHA:69735
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Hepatic fibrosis,...	OMIM:222470
Werner Syndrome	Sparse scalp hair, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Abnormal hair whor...	ORPHA:902
Monosomy 18P	Generalized dystonia, Short stature, Kyphoscoliosis, Short neck, Hypotonia, Hypothyroidism	ORPHA:1598
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Synophrys, Atypical scarring of skin, Bladder diverticulum, Thin skin, Umbilical...	ORPHA:536545
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency, Spasticity, Hypotonia, Dystonia	OMIM:619286
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Short stature, Craniosynostosis, Patent ductus arteriosus, Growth delay, Dystonia, Neonatal hypot...	ORPHA:457193
Fabry Disease	Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Hyperlipidemia, Reduced bone min...	ORPHA:324
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci...	OMIM:557000
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepat...	ORPHA:774
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Umbilical hernia, Beak...	ORPHA:137834
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Short stature, Hypospadias, Kyphosis, Hypotonia, Joint hy...	ORPHA:96169
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Helsmoortel-Van Der Aa Syndrome	Cryptorchidism, Enuresis nocturna, Thin skin, High anterior hairline, Enlarged kidney	OMIM:615873
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Short stature, Abnormality of the upper urinar...	ORPHA:2916
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Giant Cell Arteritis	Gastrointestinal infarctions, Hepatic failure, Anorexia, Abdominal pain	ORPHA:397
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Generalized dystonia, Ataxia, Increased serum lactate, Chorea, Spastic tetrapleg...	OMIM:618321
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Tremor, Hypotonia, Distal arthrogryposis, Tip-toe gait, Finger j...	OMIM:617557
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Sho...	OMIM:223800
Necrotizing Enterocolitis	Increased serum lactate, Peritonitis, Metabolic acidosis, Abnormal glucose homeostasis, Hyperglyc...	ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Generalized hypotonia, Dystonia	OMIM:617873
Cerebrooculofacioskeletal Syndrome 4	Short stature, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture, Knee flexion c...	OMIM:610758
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Short stature, Impaired temperature sensation, Precocious puberty...	ORPHA:398069
Familial Pancreatic Carcinoma	Nausea and vomiting, Elevated hepatic transaminase, Functional intestinal obstruction, Intestinal...	ORPHA:1333
Tarp Syndrome	Neonatal death, Hepatic failure	OMIM:311900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebra...	OMIM:301040
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Neurogenic bladder, Axial hypotonia, Myoclonus, Scoliosis, Dystonia	OMIM:617669
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Renal insufficiency, Mild p...	ORPHA:90324
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Joint stiffness, Kyphosis, Moderate postnatal growth retardation, Vertebral...	ORPHA:1005
3M Syndrome	Scapular winging, Short stature, Hypospadias, Hyperlordosis, Short neck, Increased vertebral heig...	ORPHA:2616
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Short neck, Kyphosis, Reduced bone mineral density, Hypogonadism, Spina bifi...	ORPHA:2983
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Slc39A8-Cdg	Osteopenia, Short stature, Severe muscular hypotonia, Craniosynostosis, Inability to walk, Elbow ...	ORPHA:468699
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, Kypho...	ORPHA:261349
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Short stature, Camptodactyly of finger, Short neck, Tremor...	ORPHA:85293
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye...	ORPHA:1787
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Abnormality of the urethra, Scarring alopecia of scalp...	ORPHA:158684
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Hepatic failure	OMIM:259720
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus a...	ORPHA:1860
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Increased serum lactate, Achilles tendon contracture, Ragged-red muscle ...	OMIM:615418
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Jaundice, Hepatosplenomegaly, Decreased liver function, Increased ...	ORPHA:167
Hellp Syndrome	Elevated hepatic transaminase, Back pain, Proteinuria, Hemoglobinuria, Increased circulating lact...	ORPHA:244242
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Axial hypotonia, Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Spasti...	ORPHA:500144
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Metabolic acidosis, Type II diabetes mellitus	ORPHA:31825
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Hypospadias, Short stature, Ataxia, Inability to walk, Hypotonia, Horse...	OMIM:620083
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Increased susceptibility to fractures, Tip...	ORPHA:216866
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, Dystonia, Oculomotor ...	OMIM:616267
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Short stature, Kyphosis, Pat...	OMIM:610443
Ogden Syndrome	Global glomerulosclerosis, Torticollis, Short stature, Maternal diabetes, Short neck, Postnatal g...	OMIM:300855
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Renal hypoplasia, Sparse hair, Aplasia c...	OMIM:616854
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gait disturbance, Myoclonu...	OMIM:168601
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
Combined Oxidative Phosphorylation Deficiency 57	Nephrogenic diabetes insipidus, Hypotonia, Myoclonus, Dystonia, Neonatal death, Central diabetes ...	OMIM:620167
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Increased serum lactate, Tetraparesis, Myoclonus, Generalized hypotonia, Spasticity	OMIM:618972
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypo...	ORPHA:2232
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Joint hyperflexibility, Scoliosis, Intrauter...	ORPHA:2115
Myoclonic Epilepsy Of Lafora	Hepatic failure	OMIM:254780
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Hypotonia, Elevated circulating calcitonin concentration, ...	OMIM:162300
Holocarboxylase Synthetase Deficiency	Hypotonia, Lactic acidosis, Metabolic acidosis, Hypertonia, Organic aciduria, Generalized hypoton...	OMIM:253270
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Axial hypotonia, Scoliosis, Dystonia, Generalized hypotonia, Laryngotracheomalacia, Limb hypertonia	OMIM:616875
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Kyphosis, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple...	ORPHA:444490
Diaphanospondylodysostosis	Inguinal hernia, Horseshoe kidney, Abnormal liver lobulation, Webbed neck, Cystic renal dysplasia...	OMIM:608022
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Dystonia	OMIM:108500
Cholera	Abnormality of renal excretion, Hypoglycemia, Acidosis, Lactic acidosis, Acute kidney injury, Dec...	ORPHA:173
Niemann-Pick Disease, Type C2	Hepatomegaly, Dystonia, Ataxia, Low cholesterol esterification rate, Splenomegaly, Jaundice, Hypo...	OMIM:607625
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma...	ORPHA:306682
Beta-Ureidopropionase Deficiency	Increased serum lactate, Hypotonia, Metabolic acidosis, Scoliosis, Dystonia, Neonatal hypotonia, ...	OMIM:613161
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Leuko...	ORPHA:974
Cole-Carpenter Syndrome	Short stature, Recurrent fractures, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, J...	ORPHA:2050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Increased circulati...	ORPHA:26793
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Osteopenia, Axial hypotonia, Diabetes mellitus, Jaundice, Hypotoni...	OMIM:614231
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor...	ORPHA:36426
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Macroglossia, Abnormal urinary odor, Gait disturbance, Myocl...	ORPHA:412217
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis	OMIM:300894
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Back pain, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney...	ORPHA:340
Digeorge Syndrome	Renal dysplasia, Pilonidal sinus, Renal insufficiency, Short stature, Parathyroid agenesis, Unila...	OMIM:188400
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Gait disturbance, Myoclonus, Abnormality of extrapyramidal m...	OMIM:607822
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of the menstrual cycle, Genital hernia, Cystocele, Subcutaneous nodu...	ORPHA:285
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat...	ORPHA:2388
Lathosterolosis	Hepatomegaly, Hepatic failure, Intrahepatic cholestasis	ORPHA:46059
Partington Syndrome	Lower limb spasticity, Gait disturbance, Limb dystonia	ORPHA:94083
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Umbilical hernia, Mild short stature, Foot dorsiflexor weakness	OMIM:169400
Posttransplant Acute Limbic Encephalitis	Ataxia, Myoclonus, Dystonia	ORPHA:163921
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umbilical hernia...	OMIM:222448
Mucolipidosis Type Ii	Hip contracture, Axial hypotonia, Short stature, Diastasis recti, Craniosynostosis, Limited wrist...	ORPHA:576
Familial Hypoaldosteronism	Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis, Growth delay, M...	ORPHA:427
Poland Syndrome	Duplicated collecting system, Encephalocele, Diabetes mellitus, Hypospadias, Congenital diaphragm...	ORPHA:2911
Japanese Encephalitis	Skeletal muscle atrophy, Stiff neck, Weakness due to upper motor neuron dysfunction, Facial palsy...	ORPHA:79139
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
Ethylene Glycol Poisoning	Renal insufficiency, Ataxia, Facial palsy, Slurred speech, Renal tubular epithelial necrosis, Ren...	ORPHA:31826
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Parkinsonism, Fatty replacement of skeletal mu...	ORPHA:1320
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Micropenis, Hypotonia	OMIM:615433
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture	ORPHA:85193
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Neurogenic bladder, Cerebral palsy, Inability to walk, Limited elbow extension, Hy...	OMIM:616973
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Lim...	OMIM:608643
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Kyphosis, Flexion contracture, Hypotonia, Hypogonadism, Gait disturbance, Scoliosi...	ORPHA:500055
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Cryptorchid...	ORPHA:1647
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Camptodactyly of ...	ORPHA:2215
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Short stature, Kyphosis, Hypotonia, Abnormal ...	ORPHA:192
Developmental And Epileptic Encephalopathy 84	Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity	OMIM:618792
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia	OMIM:164180
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic nipples, Thin skin, Ca...	OMIM:200110
Choreoacanthocytosis	Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Parkins...	OMIM:200150
Systemic Sclerosis	Renal insufficiency, Osteomyelitis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, F...	ORPHA:90291
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis, Osteopenia	OMIM:619445
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Hypotonia, Microscopi...	ORPHA:86818
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Dilatation of the renal pelvis, Dysmetria, Knee flexion contra...	OMIM:619708
Martin-Probst Syndrome	Renal insufficiency, Short stature, Proteinuria, Chordee, Umbilical hernia, Micropenis, Hypothyro...	OMIM:300519
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradykinesia, Dystonia, Short st...	OMIM:168600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Fountain Syndrome	Craniofacial hyperostosis, Short stature, Spina bifida, Kyphosis, Abnormal form of the vertebral ...	ORPHA:3219
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, L...	OMIM:203500
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Horseshoe kidney, Abnorma...	ORPHA:99776
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contrac...	OMIM:618493
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Orchitis, Spl...	ORPHA:342
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Trem...	OMIM:234200
Intellectual Developmental Disorder, Autosomal Dominant 43	Umbilical hernia, Ataxia, Hypotonia, Dystonia	OMIM:616977
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Osteoporo...	OMIM:619718
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Kyphosis, Patent ductus arteri...	ORPHA:464311
Developmental And Epileptic Encephalopathy 89	Axial hypotonia, Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Scoliosis...	OMIM:619124
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short stature	ORPHA:66518
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Hemifacial spasm, Elevated circulating aspartate aminotransferase ...	ORPHA:466677
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Dystrophic toenail	ORPHA:1657
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Axial hypotonia, Ataxia, Splenomegaly, Hypotonia, Growth delay, Nephrocalcinosis, Aminoaciduria, ...	OMIM:616084
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Shuf...	ORPHA:411602
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor...	ORPHA:537
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Hypotonia, Spastic tetraplegi...	OMIM:620024
Dysostosis, Stanescu Type	Increased bone mineral density, Short stature, Hyperlordosis, Short neck, Kyphosis, Macroglossia,...	ORPHA:1798
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Elevated circulati...	ORPHA:300373
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growt...	OMIM:619321
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Precocious puberty, Patent ductus arteriosus, Unsteady gait, Hypotonia, Reduced bone...	OMIM:616682
Pontocerebellar Hypoplasia, Type 2A	Chorea, Opisthotonus, Congenital contracture, Extrapyramidal dyskinesia, Dystonia	OMIM:277470
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Abnormality of the kidney, Congenital diaphragmatic hernia, Ataxia, K...	ORPHA:280
Rasmussen Subacute Encephalitis	Hemiparesis, Inability to walk, Involuntary movements, Hemidystonia	ORPHA:1929
Hajdu-Cheney Syndrome	Osteopenia, Hepatomegaly, Short stature, Hypospadias, Recurrent fractures, Short neck, Hypoplasti...	ORPHA:955
Isovaleric Acidemia	Ketoacidosis, Metabolic acidosis, Hyperglycinuria	OMIM:243500
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital diaphragmatic her...	OMIM:265000
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hyperaldosteronism, Decreased ...	OMIM:613677
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Camptodactyly of finger, Unilateral renal agenesis, Kyphosis, Hypotonia, Sc...	OMIM:619951
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Pain insensitivity, Tremor, Kyphosis, Patent ductus arteriosus, Hypotonia, Scol...	OMIM:617061
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Agel Amyloidosis	Ataxia, Facial palsy, Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology	ORPHA:85448
Chromosome 18P Deletion Syndrome	Short stature, Short neck, Hypotonia, Dystonia, Micropenis, Hypomimic face	OMIM:146390
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh...	ORPHA:77293
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Increased serum lactate, Ragged-red...	ORPHA:70595
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Abnormal erythrocyte enzyme level, Jaundice, C...	ORPHA:447
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, S...	ORPHA:958
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Resting tremor, Renal insufficiency, Stiff neck, Fulminant hepatit...	ORPHA:319213
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Hypoplasia of penis, Short stature, Short neck	ORPHA:3082
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia, Scoliosis, Spas...	OMIM:613454
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Renal insufficiency, Myositis, Glomerulonephritis, Osteomyeli...	ORPHA:36234
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis, Arthrogryposis multiplex c...	OMIM:617143
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:619534
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Zttk Syndrome	Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosi...	OMIM:617140
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukope...	OMIM:127550
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Hepatomegaly, Micronodular cirrhosis, Hepatic failure	OMIM:301072
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ...	ORPHA:79480
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Increased serum lactate, Urinary incontinence	OMIM:301025
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Rigidity, Kyphosis, Hypoto...	ORPHA:521426
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Hypotonia, Growth delay, Macroglossia, Scoliosis	ORPHA:261144
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Recurrent fra...	ORPHA:2785
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Short stature, Ataxia, Hyperlordosis, Precocious puberty, Unilateral renal hypoplasia...	OMIM:619950
Aspartylglucosaminuria	Beaking of vertebral bodies, Hepatomegaly, Joint laxity, Aspartylglucosaminuria, Short stature, K...	OMIM:208400
Weaver Syndrome	Diastasis recti, Kyphosis, Patent ductus arteriosus, Slurred speech, Hypotonia, Poor fine motor c...	OMIM:277590
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Chorea, Choreoathet...	ORPHA:522077
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, Rhabdomyolysis, Hematuria, Tubulo...	ORPHA:90068
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Dyst...	OMIM:610217
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal dystonia, C...	ORPHA:199351
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Hypotonia, Scoliosis	OMIM:300676
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra...	ORPHA:666
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Hypercholesterolemia, Male hypogonadism, Micropenis, ...	OMIM:619471
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Short stature, Hypospadias, Unilateral renal agenesis, Anterior pitu...	ORPHA:464306
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Kyphosis, Hypotonia, Spinal canal stenosis, Horsesho...	ORPHA:1724
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad...	ORPHA:85138
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Short stature, Hypospadias, Kyphoscoliosis, Ectopic kidney, Involuntary mo...	ORPHA:3063
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Tremor, Enuresis nocturna, Neonatal hypotonia	OMIM:619680
Microphthalmia, Lenz Type	Hydroureter, Short stature, Camptodactyly of finger, Hypospadias, Hyperlordosis, Renal hypoplasia...	ORPHA:568
Alagille Syndrome 1	Elevated hepatic transaminase, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepa...	OMIM:118450
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Vomiting, Nausea, Decreased liver function	ORPHA:466650
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Periodic hyperkalemic paralysis, Pseudohypoaldosteronism	OMIM:145260
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine level	OMIM:171420
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F...	OMIM:619503
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy...	OMIM:610915
Loeys-Dietz Syndrome	Atypical scarring of skin, Striae distensae, Camptodactyly of finger, Thin skin	ORPHA:60030
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Limb muscle weakness	ORPHA:45
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi...	OMIM:166220
Warburg-Cinotti Syndrome	Ankle flexion contracture, Elbow flexion contracture, Thin skin, Flexion contracture of finger, W...	OMIM:618175
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Hypertriglyceridemia, Kyphoscol...	ORPHA:536532
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Joint laxity, Axial hypotonia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Patent d...	OMIM:300967
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Severe short stature, Rhizomelia, Urinary incontinence, Kyphosis, Dispropor...	OMIM:616482
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pi...	ORPHA:363958
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Vesicoureteral reflux, Hypothyroidism, Joint laxity, Short stature, Abnormality of th...	ORPHA:438213
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Hypotonia, N...	ORPHA:230
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Impaired pain sensation, Kyphosis, Scoliosis, Neonatal hypotonia, Intrauterine grow...	OMIM:619005
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, De...	ORPHA:3322
Stickler Syndrome, Type I	Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi...	OMIM:108300
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis, Hypertonia	ORPHA:79155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Kyphosis, Knee flexion contracture	OMIM:603387
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemic met...	ORPHA:90794
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Inability to walk, Hypotonia, Male urethral meatus stenosis, Scoliosis, Di...	ORPHA:464738
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Axial hypotonia, Microvesicular hepatic steatosis, Tetraplegia, Hepatosplenomegaly,...	OMIM:618278
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete...	OMIM:241080
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Severe short stature, Hypospadias, Fac...	ORPHA:2658
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Axial hypotonia, Akinesia, Increased serum lactate, Abnormal pyramidal sig...	OMIM:618249
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hypoton...	OMIM:617527
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Protuberant abdomen, He...	OMIM:218330
Crimean-Congo Hemorrhagic Fever	Nausea and vomiting, Hepatomegaly, Acute pancreatitis, Anorexia, Abdominal pain, Orchitis, Spleno...	ORPHA:99827
Clark-Baraitser syndrome	Joint laxity, Kyphosis, Scoliosis	OMIM:300602
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Hypotonia...	OMIM:259770
Leber Optic Atrophy	Myopathy, Postural tremor, Ataxia, Dystonia	OMIM:535000
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia universalis	OMIM:609638
Vici Syndrome	Postnatal growth retardation, Acidosis, Hypotonia, Myopathy, Abnormal thymus morphology, Left ven...	OMIM:242840
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy...	ORPHA:273
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Adult Acute Respiratory Distress Syndrome	Metabolic acidosis, Diabetic ketoacidosis, Pancreatitis	ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Short stature, Ataxia, Tremor, Increased serum lactate, Unsteady gait, Abnormal p...	OMIM:614947
Sarcoidosis	Increased T cell count, Subcutaneous nodule, Nephrocalcinosis, Leukopenia, Tubulointerstitial nep...	ORPHA:797
Autosomal Recessive Multiple Pterygium Syndrome	Inguinal hernia, Aplasia/Hypoplasia of the skin, Hypoplasia of penis, Camptodactyly of finger, Ne...	ORPHA:2990
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Meningocele, Hypotonia, Abnormal ...	ORPHA:2789
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax...	ORPHA:438216
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Bladder diverticulum, Scoliosis...	OMIM:617821
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Metabolic acidosis, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldostero...	OMIM:177735
Vascular Ehlers-Danlos Syndrome	Macule, Inguinal hernia, Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash mor...	ORPHA:286
Kufor-Rakeb Syndrome	Eyelid apraxia, Oculogyric crisis, Urinary incontinence, Parkinsonism, Rigidity, Babinski sign, A...	ORPHA:306674
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress...	ORPHA:329308
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormo...	OMIM:620185
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Developmental And Epileptic Encephalopathy 38	Dystonia, Axial hypotonia, Ataxia, Limb hypertonia	OMIM:617020
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Coenzyme Q10 Deficiency, Primary, 2	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:614651
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Rhizomelia, Short stature, Congenital diaphrag...	ORPHA:818
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Kyphosis, Sco...	ORPHA:140
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal fo...	ORPHA:3042
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Waddling gait, Facial hypotonia, Decreased response to growth hormo...	ORPHA:506358
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Poor gross motor coordination, Hypotonia, Dystonia	ORPHA:439218
Orofaciodigital Syndrome I	Short stature, Proteinuria, Pancreatic cysts, Myelomeningocele, Hepatic fibrosis, Polycystic kidn...	OMIM:311200
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Metabolic acidosis, Polyuria	OMIM:620152
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Elbow flexion cont...	OMIM:619194
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Short stature, Decreased response to growth hormone stimulation test, Aplasia...	OMIM:618223
Alternating Hemiplegia Of Childhood	Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Mgat2-Cdg	Osteopenia, Reduced level of N-acetylglucosaminyltransferase II, Abnormality of the endocrine sys...	ORPHA:79329
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Inability to walk, Scoliosis, Infantile muscular hypotonia, Neonatal hypotonia, Sp...	ORPHA:457351
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Hemoglobinuria, Prolonged neonatal jaundice	OMIM:300908
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Hypotonia, Scoliosis, Spasticity, Hydronephrosis	OMIM:616449
Cohen Syndrome	Short stature, Kyphosis, Hypotonia, Joint hyperflexibility, Scoliosis, Delayed puberty, Intrauter...	ORPHA:193
Combined Oxidative Phosphorylation Deficiency 29	Increased serum lactate, Spasticity, Generalized hypotonia, Dystonia	OMIM:616811
Occipital Horn Syndrome	Osteopenia, Recurrent urinary tract infections, Osteomalacia, Kyphosis, Jaundice, Osteoporosis, H...	ORPHA:198
Mercury Poisoning	Tremor, Acute kidney injury, Dystonia	ORPHA:330021
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Hematuria, Hem...	ORPHA:900
Poikiloderma With Neutropenia	Sparse eyebrow, Splenomegaly, Low posterior hairline, Leukopenia, Dermal atrophy, Nail dystrophy,...	OMIM:604173
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t...	OMIM:618050
Cowden Syndrome 5	Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Scoliosis, Thyroid adenoma, Hypothyroidism, Inten...	OMIM:615108
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Craniosynostosis, Kyphosis, Hypotonia,...	OMIM:616914
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Limitation of joint mobility, Hepatitis, Hematu...	ORPHA:728
Infection-Related Hemolytic Uremic Syndrome	Anuria, Diabetes mellitus, Oliguria, Hemiparesis, Decreased urine output, Septic arthritis, Acute...	ORPHA:544482
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic...	OMIM:601345
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Cowden Syndrome	Abnormal penis morphology, Short stature, Abnormality of the kidney, Follicular thyroid carcinoma...	ORPHA:201
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Axial hypotonia, Craniosynostosis, Patent ductus arteriosus, ...	OMIM:616268
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Limitation of joi...	ORPHA:457359
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Rhizomeli...	OMIM:271700
Noonan Syndrome 14	Scapular winging, Short stature, Short neck, Kyphosis, Hypotonia, Limited elbow extension	OMIM:619745
Marshall-Smith Syndrome	Thoracic scoliosis, Axial hypotonia, Short stature, Recurrent fractures, Kyphoscoliosis, Decrease...	OMIM:602535
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Blepharonasofacial Malformation Syndrome	Joint hyperflexibility, Torsion dystonia	ORPHA:1252
Paroxysmal Cold Hemoglobinuria	Back pain, Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum lactate, Hypotonia, Ankle clonus, Falls, Difficulty walking, Dystonia	OMIM:618222
Cowden Syndrome 6	Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Scoliosis, Thyroid adenoma, Hypothyroidism, Inten...	OMIM:615109
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptoda...	OMIM:616894
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Spastic tetraparesis, Dystonia	ORPHA:404451
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Holt-Oram Syndrome	Joint stiffness, Kyphosis, Patent ductus arteriosus, Radioulnar synostosis, Scoliosis	ORPHA:392
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Recurrent urinary tract infections, Short stature, Hypospadias, Unilateral renal a...	ORPHA:268261
Early Infantile Epileptic Encephalopathy	Tremor, Precocious puberty, Micropenis, Choreoathetosis, Myoclonus, Ureterocele, Dystonia, Episod...	ORPHA:1934
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Short stature, Hypospad...	OMIM:194190
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Recurrent fractures, Joint stiffness, Kyphosis, Hemi...	ORPHA:394
15Q14 Microdeletion Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:261190
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Severe short stature, Pyelonephritis, Urethral ...	ORPHA:90349
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hematuria, Arthritis	ORPHA:761
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Axial hypotonia, Splenomegaly, Generalized hypotonia, Dystonia	OMIM:617050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Rhizomelia, Short stature, Kyphoscoliosis, Short neck, Campt...	OMIM:143095
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula...	OMIM:300942
Non-Acquired Panhypopituitarism	Osteopenia, Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to...	ORPHA:90695
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short stature, Kyphosis, Bilateral camptodactyly, Hypotonia, Growth delay, Scoliosis	OMIM:619557
Eec Syndrome	Aplasia/Hypoplasia of the skin, Slow-growing hair, Abnormal dental enamel morphology, Hypospadias...	ORPHA:1896
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, M...	OMIM:618183
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Knee osteoarthritis, Hematuria, Nephr...	ORPHA:2035
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased serum bicarbonate concentration, Pseudohypoaldosteronism, Hyperchlo...	OMIM:614492
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Tremor, Kyphosis, Gait ataxia, Scoliosis	ORPHA:476126
Kawasaki Disease	Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Arthritis, Cholecystitis	ORPHA:2331
Semilobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Short stature, Decreased response to growth hormo...	ORPHA:220386
Alobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Short stature, Decreased response to growth hormo...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Abnormal central motor function, Short stature, Decreased response to growth hormo...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Short stature, Decreased response to growth hormo...	ORPHA:93924
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Postinfectious Vasculitis	Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Hemat...	ORPHA:48435
Desmosterolosis	Splenomegaly, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:35107
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Hypotonia, Respiratory acidosis, Nephrotic syndrome, Focal segm...	OMIM:614748
Sotos Syndrome	Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morp...	ORPHA:821
Imerslund-Gräsbeck Syndrome	Proteinuria, Hypotonia	ORPHA:35858
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
2Q31.1 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Short neck, Kyphosis, Hypotonia, Vertebral segmentation d...	ORPHA:251014
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Abnormal dental enamel morphology, Alopecia tot...	ORPHA:2909
Acquired Methemoglobinemia	Acidosis	ORPHA:464453
Cowden Syndrome 1	Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Scoliosis, Thyroid adenoma, Hypothyroidism, Inten...	OMIM:158350
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Hypotonia, Scoliosis	ORPHA:404440
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Hyp...	OMIM:249420
Pheochromocytoma	Pheochromocytoma, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Sudden Cardiac Failure, Infantile	Metabolic acidosis, Hypotonia	OMIM:617222
Legius Syndrome	Short stature, Hypotonia, Nephrolithiasis, Xanthelasma, Male urethral meatus stenosis, Scoliosis,...	ORPHA:137605
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Short stature, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningo...	ORPHA:1393
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis, Hypotonia	OMIM:610773
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Peritonitis, Hemoglobinuria, Increased circulating lactate dehydrogenase concentration, A...	ORPHA:90038
Coffin-Siris Syndrome 1	Joint laxity, Sacral dimple, Hydroureter, Short stature, Hypospadias, Congenital diaphragmatic he...	OMIM:135900
Lafora Disease	Hepatic failure, Nasogastric tube feeding	ORPHA:501
Hawkinsinuria	Metabolic acidosis, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
17Q11 Microdeletion Syndrome	Osteopenia, Abnormal central motor function, Short stature, Rhabdomyosarcoma, Precocious puberty,...	ORPHA:97685
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Spasticity, Dystonia	OMIM:607236
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ...	ORPHA:1231
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Renal interstitial edema, Renal tubular epithelial necrosis, Steril...	ORPHA:91500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Short stature, Abnormality of the thyroid gland, Kyphosis, Scoliosis	ORPHA:1969
Dysosteosclerosis	Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology	ORPHA:1782
Yellow Fever	Low back pain, Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate am...	ORPHA:99829
Neurodegeneration And Seizures Due To Copper Transport Defect	Increased serum lactate, Axial hypotonia, Glandular hypospadias, Limb hypertonia	OMIM:620306
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:963
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Short stature, Hypergonadotropic hyp...	OMIM:259050
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Involuntary movements, Urinary incontinence	ORPHA:98784
Renal Nutcracker Syndrome	Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis	ORPHA:71273
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Congenital Short Bowel Syndrome	Metabolic acidosis, Steatorrhea	OMIM:615237
Marfanoid Habitus With Situs Inversus	Kyphosis, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Hypotonia, Metabolic acidosis, Renal tubular acidosis, Joint hypermobility	OMIM:619575
Occipital Horn Syndrome	Joint laxity, Kyphosis, Capitate-hamate fusion, Osteoporosis, Growth delay, Hydronephrosis, Platy...	OMIM:304150
Acute Radiation Syndrome	Skin ulcer, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology	ORPHA:2290
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria, Arthritis	ORPHA:536
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Alopecia, Pancytopenia, Sparse eyelashes, Hypospadias, Phimosis, Cryptorc...	OMIM:305000
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Kyphosis, Hypotonia, Joint hyperflexibility, Abnormality of the ver...	ORPHA:77301
Johanson-Blizzard Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:243800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Aplasia cutis congenita on trunk or limbs, Scarring, Atrophic scars, Nail dystrophy, Ap...	ORPHA:79396
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Maturity-onset diabetes of the young, Parkins...	ORPHA:1578
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:314769
Colchicine Poisoning	Renal insufficiency, Abnormality of acid-base homeostasis, Oliguria, Lactic acidosis, Metabolic a...	ORPHA:31824
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skin erosion, Flexion contracture, Atypical scarring of skin, Nevus, Aplasia cutis congenita, Mil...	ORPHA:89842
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Supranuclear Palsy, Progressive, 1	Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Poor coordination, Hypotonia, Scoliosis	ORPHA:420794
Autosomal Recessive Robinow Syndrome	Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Short ...	ORPHA:1507
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Increased serum lactate, Metabolic acidosis, Generalized hypotonia, Pate...	OMIM:618252
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Gait disturbance, Dystonia	OMIM:617903
Combined Oxidative Phosphorylation Defect Type 29	Increased serum lactate, Abnormal muscle tone, Poor coordination, Myoclonic spasms	ORPHA:478029
Lipoid Proteinosis	Dystonia	ORPHA:530
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Kyphosis, Hemiplegia/hemiparesis, Osteoarthritis, Spinal ...	ORPHA:828
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Pseudohypoaldosteronism, Hyperchloremic metabolic acidosis	OMIM:614496
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Displacement of the urethral meatus...	ORPHA:1556
Neurofibromatosis Type 1	Short stature, Ataxia, Abnormality of the upper urinary tract, Recurrent fractures, Abnormality o...	ORPHA:636
Mend Syndrome	Sacral dimple, Axial hypotonia, Short stature, Kyphosis, Hypotonia, Hypertonia, Crossed fused ren...	OMIM:300960
Kindler Epidermolysis Bullosa	Urethral stricture, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enam...	ORPHA:2908
Cdags Syndrome	Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Lambdoidal craniosynosto...	OMIM:603116
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Supranuclear Palsy, Progressive, 2	Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ...	OMIM:609454
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hematuria, Nail dystrophy, Ureterocele, Aplasia...	ORPHA:79403
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Aplastic anemia, Abnormal dental enamel morphology, Alopecia tot...	ORPHA:221008
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormality o...	ORPHA:3339
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Alopecia, Multicystic kidney dysplasia, Hydroureter, Dysuria, Skin erosion, R...	ORPHA:79404
Cleidocranial Dysplasia 1	Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Increased susc...	OMIM:119600
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Limited elbow movement, Kyphosis, Meni...	ORPHA:558
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Hyperlordosis, Kyphosis, Hypotonia, Gait ataxia, Scoliosis	OMIM:617011
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro...	OMIM:249000
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Hypotonia	OMIM:619244
Subacute Cutaneous Lupus Erythematosus	Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina...	ORPHA:2108
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia	OMIM:306955
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Malignant Atrophic Papulosis	Peritonitis, Dermal atrophy, Papule	ORPHA:679
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal d...	ORPHA:2556
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Short stature, Hypoplasia of the musculature, Kyphosis, Hypotonia, ...	OMIM:278250
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to...	ORPHA:2769
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Short stature, Kyphosis, Hypotonia, Scoliosis, Generalized hypotonia	OMIM:182210
Nmda Receptor Encephalitis	Oculogyric crisis, Involuntary movements, Rigidity, Neoplasm of the thymus, Chorea, Opisthotonus,...	ORPHA:217253
Cardiogenic Shock	Increased serum lactate, Metabolic acidosis, Oliguria	ORPHA:97292
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261250
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Joint laxity, Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hyp...	OMIM:300106
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Renal hy...	OMIM:181270
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Skin ulce...	ORPHA:221
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Low anterior hair...	OMIM:209885
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Hyperlipidemia, Renal steatosis, Abnormal tendon morphology, Renal artery s...	ORPHA:391665
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Hydroureter, Camptodactyly of finger, Abnormality of the kidney, Abnormalit...	ORPHA:2273
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Renal agenesis, Hyperlordosis, Postnatal growth retardation, Kyphosis,...	OMIM:113620
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Craniosynostosis, Joint stiffness, Neoplasm of the thy...	ORPHA:744
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Kyphosis, Hypotonia, Difficulty walking, Scoliosis	OMIM:619482
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Pain insensitivity, Broad-based gait, Short neck, Hypotonia, Dystonia, Umbilical he...	OMIM:620330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Flexion cont...	ORPHA:79408
Kindler Syndrome	Phimosis, Urethral stenosis, Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy	OMIM:173650
Oculoectodermal Syndrome	Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Preauricular skin tag, Bladder ex...	OMIM:600268
Pseudoaminopterin Syndrome	Asplenia	ORPHA:221120
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Abnormal penis morphology, Dysuria, Renal tubular epithelial necro...	ORPHA:95455
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Chordee, Micropenis	OMIM:309801
Focal Dermal Hypoplasia	Omphalocele, Ureteral duplication, Inguinal hernia, Brittle hair, Congenital diaphragmatic hernia...	OMIM:305600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Coronal craniosynostosis, Hypospadias, Tarsal synostosis	ORPHA:85199
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Hypospadias, Short nail, Camptodactyly of fing...	ORPHA:1662
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Viss Syndrome	Joint laxity, Short stature, Joint hypermobility, Kyphosis, Patent ductus arteriosus, Hypothyroid...	OMIM:619472
Tetraamelia Syndrome 1	Asplenia	OMIM:273395
Ramon Syndrome	Juvenile rheumatoid arthritis, Kyphosis, Short stature, Scoliosis	OMIM:266270
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short stature, Kyphosis, Hypotonia, Lumbar kyphosis, Sco...	OMIM:303600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Babinski sign, Hemiparesis, Tetraparesis, Dystonia, Hemiplegia, Spasticity, Facial...	OMIM:175780
Yunis-Varon Syndrome	Absent sternal ossification, Hypospadias, Anterior concavity of thoracic vertebrae, Kyphosis, Del...	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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