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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
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