Gene Summary

nephronophthisis 3 (adolescent)
D330020E01Rik,  pcy,  nephrocystin 3,  3632410F03Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Nphp3em1(IMPC)J HET Early adult 4.69×10-06
preweaning lethality, incomplete penetrance Nphp3em1(IMPC)J HOM   Early adult 0.00

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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.


XRay Images Skull Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

15 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Forepaw

9 Images


XRay Images Whole Body Dorso Ventral

9 Images

Combined SHIRPA and Dysmorphology


1 Images


XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Nphp3 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 predicted to be associated to Nphp3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:232700
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Hepatomegaly, Hyperammonemia, Renal insufficiency, Anemia, Nausea and vomiting, Lethargy ORPHA:28
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hemiplegia/hemiparesis, Coma, Pancreatitis, Hyperammonemia, Hepatomega... ORPHA:289916
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Feeding difficulties, Abdominal p... ORPHA:79312
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Coma, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic ane... ORPHA:27
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abdominal distention, Multiple renal cysts... ORPHA:2924
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Confusion, Hemiparesis, Paroxysmal lethargy, Choreoathetosis, S... OMIM:606777
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612925
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612926
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Confusion, Hemiparesis, Chorea, Choreoa... ORPHA:71277
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin, Abdominal distention OMIM:174050
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abdominal pain, Abnormality of the kidn... ORPHA:85445
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Neonatal death, Tu... OMIM:263200
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Coma, Hyperammonemia, Hyperlysinuria, Lethargy, Dibasicaminoaciduria OMIM:238750
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Confusion, Schistocytosis, Tremor, Elev... OMIM:274150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Vascul... OMIM:617056
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Anorexia, Hepatosplenomegaly, Hemolytic anemia, D... OMIM:611590
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Acute hyperammonemia, Coma, Hepatomegaly, Feeding difficulties, Hyperam... ORPHA:927
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... OMIM:615993
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... OMIM:130950
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Elevated urinary 7-biopterin level, Tremor, Transient hyperphenylalaninemia, Hyperphe... OMIM:264070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Coma, Diarrhea, Hemiparesis, Schistocytosis, Eleva... OMIM:235400
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Cleft palate, Micrognathia, Hypospadias, Renal cy... OMIM:231060
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Thyrocerebrorenal Syndrome
Nephritis, Myoclonus, Nonprogressive cerebellar ataxia, Renal insufficiency, Thrombocytopenia, Sl... ORPHA:3327
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenom... ORPHA:1133
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Hepatomegaly, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dyst... OMIM:618224
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Constipation, Feeding difficulties, Oculogyric crisis, Babinski sign, Parki... ORPHA:101150
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Medullary cystic kidney disease 2
Renal tubular atrophy, Gout, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small m... OMIM:603860
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Developmental And Epileptic Encephalopathy 92
Ataxia, Feeding difficulties, Myoclonus, Spasticity, Dystonia, Lethargy OMIM:617829
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Abnormal renal tubule morphology, Proteinuria, Delayed eruption of permanent ... ORPHA:839
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hypertonia, Feeding difficulties, Increased lev... ORPHA:26792
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... OMIM:613680
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Citrullinemia Type I
Torticollis, Ataxia, Coma, Gastroesophageal reflux, Feeding difficulties, Hyperammonemia, Hepatic... ORPHA:247525
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Nephrotic syndrome, Intention tremor, Myoclonus, Nephropathy, Focal segmental glom... OMIM:254900
Porphyria Due To Ala Dehydratase Deficiency
Fluctuations in consciousness, Constipation, Abdominal distention, Abdominal pain, Increased eryt... ORPHA:100924
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Severe Canavan Disease
Gastroesophageal reflux, Feeding difficulties, Poor suck, Decerebrate rigidity, Babinski sign, Vo... ORPHA:314911
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Lethargy ORPHA:254857
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Coma, Hepatomegaly, Spastic paraparesis, Poor coordi... OMIM:238970
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Vascular dilatation, Renal insufficiency, Retinal art... OMIM:611773
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Multicystic kidney dysplasia, Carious t... ORPHA:3270
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Hypoplasia of penis, Hypodontia, Hypospadias, Delayed eruption of teeth ORPHA:1816
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury, R... ORPHA:673
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperglycinuria, Myoclonus OMIM:605899
Developmental And Epileptic Encephalopathy 40
Feeding difficulties, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Lethargy OMIM:617065
Holocarboxylase Synthetase Deficiency
Ataxia, Coma, Hyperammonemia, Anorexia, Eczema, Keratoconjunctivitis, Perioral eczema, Organic ac... ORPHA:79242
Ataxia, Action tremor, Hepatomegaly, Feeding difficulties, Hepatic failure, Increased level of ga... ORPHA:352
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Methylmalonic Aciduria, Cbla Type
Ketonuria, Neutropenia, Coma, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... OMIM:251100
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate ORPHA:3316
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... ORPHA:567548
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Propionic Acidemia
Neutropenia, Coma, Pancreatitis, Hyperglycinuria, Hyperammonemia, Hepatomegaly, Constipation, Lim... OMIM:606054
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Congenital Pancreatic Cyst
Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting ORPHA:313906
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Lacticaciduria, Anorexia, Elevated circulating creatine kinase conce... OMIM:619386
Kleefstra Syndrome
Hypoplasia of penis, Macroglossia, Everted lower lip vermilion, Malar flattening, Micropenis, Hyp... ORPHA:261494
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Ataxia, Hepatomegaly, Feeding difficulties, Hy... ORPHA:2394
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Lesch-Nyhan Syndrome
Hemiplegia/hemiparesis, Hematuria, Gout, Spasticity, Hyperuricemia, Renal insufficiency, Anemia ORPHA:510
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Trehalase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:103909
Hypertonia, Ataxia, Coma, Hepatomegaly, Skin rash, Splenomegaly, Constipation, Abdominal pain, Di... ORPHA:99745
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Renal cyst, Abnormality of the kidney OMIM:615982
Early Myoclonic Encephalopathy
Feeding difficulties, Poor suck, Myoclonus, Dysphagia, Lethargy ORPHA:1935
N-Acetylglutamate Synthase Deficiency
Coma, Hyperammonemia, Confusion, Vomiting, Increased level of L-glutamic acid in blood, Lethargy OMIM:237310
Carnitine Palmitoyltransferase I Deficiency
Coma, Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase ... OMIM:255120
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... OMIM:610253
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Methylmalonic aciduria, Vomiting, H... OMIM:251000
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Coma, Confusion, Hemiparesis, Tremor, Drowsiness OMIM:141500
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Confusion, Hemiparesis, Lethargy OMIM:617900
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Feeding difficulties, Myoclonus, ... OMIM:614922
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Vomiting, Lethargy ORPHA:622
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Thyrocerebroretinal Syndrome
Ataxia, Nephritis, Myoclonus, Thrombocytopenia, Slurred speech OMIM:274240
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Uraciluria, Tetraplegia, Lethargy OMIM:274270
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... OMIM:233910
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth, Long penis OMIM:262190
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Central Diabetes Insipidus
Anorexia, Diarrhea, Nocturia, Hyponatremia, Excessive daytime somnolence, Nausea and vomiting, Le... ORPHA:178029
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Hypertr... ORPHA:2348
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Hypoplasia of penis, Malar flattening, Everted lower lip vermili... ORPHA:85321
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Gastroesophageal reflux, Renal tubular atrophy, Hy... OMIM:256300
Maple Syrup Urine Disease
Hypertonia, Ataxia, Coma, Pancreatitis, Vomiting, Feeding difficulties in infancy, Elevated plasm... OMIM:248600
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Dopa-Responsive Dystonia
Leg dystonia, Constipation, Poor coordination, Abnormality of extrapyramidal motor function, Ocul... ORPHA:255
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy, Poor suck OMIM:615026
Methylmalonic Aciduria, Cblb Type
Ketonuria, Neutropenia, Coma, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... OMIM:251110
Glucose-Galactose Malabsorption
Nephrolithiasis, Abdominal distention, Diarrhea, Hematuria, Hypernatremia, Vomiting, Renal insuff... ORPHA:35710
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Gaucher Disease, Type Ii
Hepatomegaly, Feeding difficulties, Splenomegaly, Rigidity, Recurrent aspiration pneumonia, Spast... OMIM:230900
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Feeding difficulties, Dystonia, Lethargy OMIM:246900
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Coma, Hepatomegaly, Constipation, Abdominal pain, Abdom... ORPHA:469
Pediatric Systemic Lupus Erythematosus
Hemiplegia, Discoid lupus rash, Diarrhea, Hematuria, Vomiting, Proteinuria, Microangiopathic hemo... ORPHA:93552
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Lethargy OMIM:236270
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Micrognathia, M... ORPHA:1166
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Decreased liver function, Renal cyst, Hepatomegaly OMIM:614870
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Velopharyngeal insufficiency, Micropenis, Retrogn... ORPHA:363444
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Constipation, Rheumatoid arthritis, Hematu... ORPHA:49041
Multiple Carboxylase Deficiency
Ataxia, Coma, Spastic paraparesis, Hyperammonemia, Skin rash, Feeding difficulties, Organic acidu... ORPHA:148
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Midshaft hypospadias, Renal hypoplasia/aplasia, Micrognathia, Delaye... ORPHA:2863
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, L... OMIM:143880
Scrub Typhus
Skin rash, Splenomegaly, Abdominal pain, Myocarditis, Anterior uveitis, Tremor, Renal insufficien... ORPHA:83317
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Lower limb hypertonia, Feeding difficulties, Hypo... ORPHA:2169
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Nephronophthisis 18
Hydrocephalus, Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, T... OMIM:615862
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Coma, Opisthotonus, Babinski sign, Ab... OMIM:607483
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Feeding difficulties, Chorea, Frequent falls, Tremor, Hemiballismus, Nasogastric tube feeding in ... ORPHA:494526
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Confusion, Hemiparesis, Lethargy OMIM:613002
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Gout, Carious teeth, Enlarged kidney, Proteinuria, Hyperuricemia, Pol... ORPHA:79259
Carnitine Palmitoyl Transferase 1A Deficiency
Hemiplegia/hemiparesis, Coma, Renal tubular acidosis, Hepatomegaly, Hepatic failure, Transient hy... ORPHA:156
Holocarboxylase Synthetase Deficiency
Hypertonia, Coma, Skin rash, Hyperammonemia, Vomiting, Organic aciduria, Feeding difficulties in ... OMIM:253270
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Hypospadias, Abnormality of the urinary system, Car... OMIM:249630
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... OMIM:615008
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Ataxia, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hypoargininem... OMIM:237300
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyc... OMIM:207750
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Spastic diplegia, Vomiting, Increased mean platelet volume, Feeding difficu... OMIM:300048
Methylmalonic Acidemia With Homocystinuria
Skin rash, Feeding difficulties, Lethargy ORPHA:26
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Enlarged kidney OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, El... ORPHA:157
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... OMIM:616828
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Hematuria, Vasculitis, Arthritis, Renal insufficiency, Proteinuria,... ORPHA:375
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Lethargy ORPHA:79283
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Acute hyperammonemia, Coma, Elevated urinary 3-methylcrotonylglycine level, Opisthoton... OMIM:210200
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Citrullinemia Type Ii
Fluctuations in consciousness, Acute hyperammonemia, Hyperlipidemia, Coma, Pancreatitis, Hypoprot... ORPHA:247585
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... OMIM:619398
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Feeding difficulties in infancy, Ethylmalonic aciduria, Lethargy OMIM:201470
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ataxia, Coma, Hepatomegaly, Hyperammonemia, Elevated circulating creati... ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, Hy... ORPHA:228308
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Hypospadias, Renal cortical ... OMIM:601095
46,Xy Sex Reversal 4
High palate, Increased blood urea nitrogen, Cleft palate, Micrognathia, Long philtrum, Renal dysp... OMIM:154230
Cleft upper lip, Malar flattening, Cleft palate, Micropenis, Micrognathia, Hypospadias, Hyperecho... OMIM:612651
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Gingival overgrowth, Dagger-shaped pulp calcifications, Pol... OMIM:204690
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, He... ORPHA:447
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Anemia, Renal insufficiency ORPHA:655
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Delirium, Hematuria, Tremor, Cystathioninemia, Proteinuria, Hemolytic-uremic syndrome, Hypomethio... OMIM:277400
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Kabuki Syndrome 2
High palate, Dental malocclusion, Hypodontia, Cleft palate, Micrognathia, Coarctation of aorta, L... OMIM:300867
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... OMIM:608836
Glycogen Storage Disease Iv
Hepatosplenomegaly, Tubulointerstitial fibrosis OMIM:232500
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Coma, Hyperglycinuria, Opisthotonus, Hyperammonemia, Feeding dif... OMIM:210210
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Reversible renal failure, Elevated circulating creatinine concentra... OMIM:607665
Intestinal Dysmotility Syndrome
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... OMIM:620045
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Transposition of the great arteries, Hydronephrosis, Enlarged kidney OMIM:314390
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... OMIM:603278
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Say Syndrome
Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate OMIM:181180
Isovaleric Acidemia
Coma, Hyperglycinuria, Leukopenia, Vomiting, Pancytopenia, Thrombocytopenia, Lethargy OMIM:243500
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... OMIM:152700
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:181393
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Renal cyst, Renal hyp... OMIM:616300
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Hereditary Spherocytosis
Ataxia, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoies... ORPHA:822
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr... ORPHA:93110
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Macroglossia, Renal tubular atrophy, Splenomegaly, E... OMIM:617303
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Hepatomegaly, Myoclonus, Vomiting, Spasticity, Abnormality of extrapyramidal motor functi... OMIM:614299
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Elevated circulating glutaric aci... OMIM:231680
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Developmental And Epileptic Encephalopathy 41
Feeding difficulties, Spasticity, Lethargy OMIM:617105
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methy... OMIM:277410
Arima Syndrome
Occipital meningocele, Wide mouth, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubuloi... OMIM:243910
Gapo Syndrome
Eruption failure, Hepatomegaly, High, narrow palate, Prominent scalp veins, Abnormality of the de... OMIM:230740
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Natal tooth ORPHA:99811
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Neutropenia, Skin rash, Methylmalonic aciduria, Homocystinuria, Hyperhomocy... OMIM:277380
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Gingival overgrowth, Micrognathia, Short philtrum, Hypospadias, Left ventricular hyp... OMIM:619148
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia, Vomiting, Myoclonus OMIM:618225
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abdominal distention, Hepatomegaly, Feeding difficulties, Hepatic failure, Increased total bilirubin OMIM:618528
Hyperinsulinism Due To Ucp2 Deficiency
Loss of consciousness, Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemi... ORPHA:276556
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Macroglossia, Open bite, S... ORPHA:61
Dyskinesia, Limb And Orofacial, Infantile-Onset
Feeding difficulties, Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Lead Poisoning
Renal tubular dysfunction, Abdominal cramps, Poor gross motor coordination, Chronic kidney diseas... ORPHA:330015
Carnitine Deficiency, Systemic Primary
Coma, Hepatomegaly, Hyperammonemia, Confusion, Vomiting, Decreased plasma carnitine, Excessive da... OMIM:212140
Spastic Paraplegia 6, Autosomal Dominant
Urinary bladder sphincter dysfunction, Babinski sign, Urinary urgency, Spastic paraplegia, Tremor... OMIM:600363
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Hepatomegaly, Hepatic failure, G... OMIM:277900
Coach Syndrome 3
Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstit... OMIM:619113
Citrullinemia, Classic
Ataxia, Oroticaciduria, Coma, Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Hypoar... OMIM:215700
Acute Intermittent Porphyria
Constipation, Diarrhea, Tremor, Urinary retention, Excessive daytime somnolence, Dark urine, Hypo... ORPHA:79276
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Abdominal distention, Recurrent urinary tract infections, Hypoperistalsis, Fetal... OMIM:619365
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Lethargy OMIM:613710
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Joubert Syndrome 16
Renal cyst, Encephalocele, Nephronophthisis OMIM:614465
Potocki-Lupski Syndrome
High palate, Wide mouth, Dental malocclusion, Micrognathia, Abnormal renal morphology, Hypocholes... OMIM:610883
Classic Galactosemia
Ataxia, Action tremor, Clumsiness, Hepatomegaly, Feeding difficulties, Hepatic failure, Diarrhea,... ORPHA:79239
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Hydroureter, Vesicoureteral reflux, Vascular dilatation OMIM:617219
Tyrosinemia, Type I
Melena, Hypophosphatemic rickets, Paralytic ileus, Hepatomegaly, Splenomegaly, Elevated alpha-fet... OMIM:276700
Nephrolithiasis, Tremor, Cystathioninemia, Cystathioninuria ORPHA:212
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Hypospadias, Thick vermilion ... OMIM:603463
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Vasculitis, Recurrent sinusitis, R... OMIM:610984
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Mulibrey Nanism
Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Enamel hypoplasia, Hypoplastic fro... OMIM:253250
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Poor suck, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyp... OMIM:261640
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Hepatosplenomegaly, Protuberant abdomen, Abnormal renal morphology ORPHA:221054
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Oroticaciduria, Coma, Abdominal pain, Hyperammonemia, Episodic ammonia intoxication, Low ... OMIM:311250
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... ORPHA:1031
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Thick l... OMIM:619797
Holzgreve Syndrome
Cleft upper lip, Renal hypoplasia, Cleft palate, Renal agenesis OMIM:236110
Transcobalamin Ii Deficiency
Ataxia, Methylmalonic aciduria, Diarrhea, Vomiting, Macrocytic anemia, Pancytopenia, Lethargy, Ne... OMIM:275350
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea ORPHA:103907
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Urinary urgency, Dystonia OMIM:605909
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Glycerol Kinase Deficiency
Coma, Episodic vomiting, Increased urinary glycerol, Hypertriglyceridemia, Lethargy, Loss of cons... OMIM:307030
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Abdominal dis... OMIM:619423
Immunodeficiency 49
Inflammatory abnormality of the skin, Micrognathia, Short philtrum, Natal tooth, Pulmonary artery... OMIM:617237
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Arthritis, Increased se... OMIM:602390
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Loss of consciousness, Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemi... ORPHA:276575
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Carious teeth, Renal cyst, Conjunctivitis OMIM:615560
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Feeding difficulties, Elevated circulating propionylcarnitine concentrat... OMIM:614857
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseudo-obstr... OMIM:613662
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Progressive cerebellar ataxia, Hepatomegaly, Hepatic failure, Feeding difficulties, Poor coordina... ORPHA:415
Cyclic Vomiting Syndrome
Ataxia, Abdominal pain, Anorexia, Vomiting, Nausea, Gastrointestinal dysmotility, Lethargy OMIM:500007
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Hydronephrosis, Ma... ORPHA:3079
Rabson-Mendenhall Syndrome
High palate, Gingival overgrowth, Hypokalemia, Macroglossia, Increased C-peptide level, Abnormali... ORPHA:769
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Coma, Abnormal circulating fatty-acid concentration, Hepatomegaly, Diar... ORPHA:263455
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Hypophosphatemia, Narrow mouth, Cleft palate, Malar... OMIM:259775
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Abnormality of the kidney, Natal tooth, Vesicoureteral reflux, Thic... ORPHA:261652
Wolman Disease
Abdominal distention, Hepatomegaly, Splenomegaly, Hepatic failure, Malnutrition, Anemia, Bone-mar... ORPHA:75233
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, He... OMIM:616307
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Vomiting, Letha... OMIM:600649
Glucose/Galactose Malabsorption
Abdominal distention, Glycosuria, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Colonic Atresia
Abdominal distention OMIM:303650
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tre... OMIM:615924
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Abdominal distention, Decerebrate rigidity, Babinski sign, Vegetative state, Cholecys... ORPHA:309256
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Abdominal distention, Hepatomegaly, Abnormality of the kidney, Proteinuria ORPHA:369
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Abdominal distention, Intention tremor, Decerebrate rigidity, Babinski sign, Vegetati... ORPHA:309263
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Dysphagia OMIM:615945
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Enuresis, Hypospadias, Short philtrum, Recurrent urinary tract i... OMIM:619293
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Hyperinsulinism Due To Hnf1A Deficiency
Loss of consciousness, Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemi... ORPHA:324575
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Constipation, Feeding difficulties, Gastroesoph... OMIM:613135
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Spastic diplegia, Tremor, Hyperlysinur... ORPHA:3124
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Hyperalaninemia, Dystonia, Lethargy, Episodic ataxia OMIM:312170
Nephrogenic rest, Cleft palate, Micrognathia, Cystic renal dysplasia, Enlarged kidney, Nephroblas... OMIM:608022
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Tetralogy of Fallot, Ren... OMIM:610205
Verheij Syndrome
Renal agenesis, Long philtrum, Renal cyst, Renal hypoplasia, Thin upper lip vermilion OMIM:615583
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Dengue Fever
Hepatomegaly, Hypoproteinemia, Skin rash, Abdominal pain, Leukopenia, Diarrhea, Gastrointestinal ... ORPHA:99828
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Biotinidase Deficiency
Ataxia, Hepatomegaly, Skin rash, Recurrent skin infections, Splenomegaly, Hyperammonemia, Diarrhe... OMIM:253260
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Abdominal distention, Glycosuria, Gener... OMIM:227810
Glutaric Acidemia Type 3
Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme le... ORPHA:35706
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion OMIM:618292
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis, Varicose veins OMIM:314300
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Babinski sign, Vomiting, Dysphagia, Dystonia, Lethargy OMIM:618226
Central Neurocytoma
Ataxia, Coma, Babinski sign, Nausea and vomiting, Lethargy ORPHA:73256
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemic coma, Drowsiness, Let... ORPHA:276580
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney, Vascular dilatation OMIM:602200
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Constipation, Resting tremor OMIM:616710
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Abnormal palate morphology, Mandibu... ORPHA:2471
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Vomiting, Dependency on parenteral nutrition, Bronchiectasis, Secretory dia... OMIM:619445
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Laron Syndrome
Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Mic... ORPHA:633
Pallister-Hall Syndrome
Cleft upper lip, Distal urethral duplication, Cleft palate, Micropenis, Hydroureter, Renal dyspla... OMIM:146510
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Coma, Hepatomegaly, Vomiting, Decreased plasma carnitine, Medium chain dicarboxy... OMIM:201450
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Hypermanganesemia With Dystonia 1
Decreased liver function, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Hepato... OMIM:613280
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Constipation, Gastroesophageal reflux, Abnormal renal physiology, ... OMIM:223900
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Sulfite Oxidase Deficiency, Isolated
Eczema, Elevated circulating creatine kinase concentration, Delayed eruption of teeth, Decreased ... OMIM:272300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Anorexia, Diarrhea, Thrombocytopenia, Lethargy ORPHA:49827
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Lethargy, Hypera... OMIM:618120
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Skin rash, Feeding difficulties, Unilateral renal agenesis, Elevated circul... ORPHA:79284
Plasminogen Deficiency, Type I
Nephrolithiasis, Gingival overgrowth, Periodontitis, Nephritis, Gingivitis, Decreased level of pl... OMIM:217090
Argininosuccinic Aciduria
Ataxia, Oroticaciduria, Coma, Aminoaciduria, Hepatomegaly, Hyperammonemia, Episodic ammonia intox... OMIM:207900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Coma, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Myoclonus, Vomiting, Organic acidu... OMIM:246450
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... ORPHA:470
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Drowsiness, Coma, Lethargy ORPHA:276608
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Elevated circul... OMIM:201475
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced... OMIM:615873
Sotos Syndrome
High palate, Narrow palate, High, narrow palate, Otitis media, Abnormality of the kidney, Advance... OMIM:117550
Opitz Gbbb Syndrome
High palate, Hypodontia, Cleft palate, Micrognathia, Hypospadias, Abnormality of the urinary syst... ORPHA:2745
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Micrognathia, Polycystic ovaries, Decreased HDL cholest... ORPHA:280365
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Multicystic kidn... OMIM:300209
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Ellis-Van Creveld Syndrome
Cleft upper lip, Abnormality of the alveolar ridges, Hypodontia, Hypospadias, Delayed eruption of... OMIM:225500
Hirschsprung Disease, Susceptibility To, 1
Constipation, Vomiting, Abdominal distention, Enterocolitis OMIM:142623
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Skin rash, Projectile vomiting, Anorexia, ... ORPHA:33475
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly OMIM:608776
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Feeding difficulties, Episodic vomiting, Renal cyst, ... ORPHA:255249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal... OMIM:615287
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly... OMIM:236500
Myelomeningocele, Multiple renal cysts, Cleft palate ORPHA:66637
Trisomy X
Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Constipation, Gastroesophageal reflux, ... OMIM:608643
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Renal ... OMIM:113650
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Hepatomegaly, 3-Methylglutaric aciduria, Diarrhea, Spasticity, Hyperuricemia, Episodic vo... ORPHA:20
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft upper lip, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Micr... OMIM:300373
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Abdominal distention, Diarrhea, Vomiting, Elevated circul... OMIM:608104
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... ORPHA:2791
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Atopic dermatitis, Incisor macrodontia, Widely-spaced maxillary central inci... OMIM:619719
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Neonatal death, Renal dysplasia, Enlarged kidney, Hepatic cysts, Poly... OMIM:208540
Meckel Syndrome, Type 8
Abdominal distention, Hyperechogenic kidneys OMIM:613885
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Increased blood urea nitrogen, Hypoplasia of the primary ... ORPHA:90321
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt... OMIM:603909
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Abdominal distention, Intention tremor, Decerebrate rigidity, Babinski sign, Vegetati... ORPHA:309271
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Visceral Myopathy 1
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Urinary ret... OMIM:155310
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia