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 2.30×10-05
preweaning lethality, incomplete penetrance Nphp3em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Combined SHIRPA and Dysmorphology


1 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, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Glycogen Storage Disease Vi
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Hyperammonemia, Chorea, Neutropenia, Hemiplegia/hemiparesis, Hepatomega... ORPHA:289916
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Hepatomegaly, Anemia, Nausea and vomiting, Renal insufficiency, Hyperammonemia ORPHA:28
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Nausea and vomiting, Feeding difficulties, Abdominal pain, Neutropenia,... ORPHA:79312
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Nausea and vomiting, Paraparesis, Tetraparesis, Ataxia, Hepatomegaly, Thrombocyto... ORPHA:27
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Confusion, Myoclonus, Babinski sig... OMIM:606777
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Feeding difficulties, Difficulty walking, Ataxia, Myoclonu... OMIM:617829
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Thyrocerebrorenal Syndrome
Slurred speech, Thrombocytopenia, Myoclonus, Renal insufficiency, Nephritis, Nonprogressive cereb... ORPHA:3327
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Abdominal pain, Gas... ORPHA:2924
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612926
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Confusion, Abnor... ORPHA:71277
Aa Amyloidosis
Malnutrition, Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abdominal pain, Nausea, Ch... ORPHA:85445
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia, Elevated urinary 7-bi... OMIM:264070
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Coma, Lethargy, Hyperlysinemia, Hyperammonemia, Hyperlysinuria OMIM:238750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Vascular dilatation, Gout, Chroni... OMIM:617056
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, Anorexia... OMIM:611590
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Genitopalatocardiac Syndrome
Micrognathia, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft palate, Hypospadi... OMIM:231060
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... OMIM:615993
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Tremor, Microangiopathic hemolytic anemia, Increased blood urea nitrog... OMIM:274150
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Alport Syndrome
Nephritis, Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuri... ORPHA:63
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Poor appetite, Delirium, Lethargy, Hyperglutaminemia, Feeding difficulties, Nausea, Ataxia,... ORPHA:927
Cirrhosis, Familial
Lethargy, Abdominal distention, Increased level of L-fucose in urine, Increased level of propylen... OMIM:215600
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Abnormal urinary electrolyte concentrati... ORPHA:730
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Coma, Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Anur... OMIM:235400
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical adenoma, Nephroblastoma, P... OMIM:145001
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Dysphagia, Intention tremor, Ne... OMIM:254900
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:618224
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst, Abdominal distention OMIM:174050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Feeding difficulties, Abnormality of extrapyramidal motor... ORPHA:101150
Porphyria Due To Ala Dehydratase Deficiency
Delirium, Myeloproliferative disorder, Purple urine, Difficulty walking, Increased erythrocyte pr... ORPHA:100924
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperglycinuria, Myoclonus, Hyperactivity OMIM:605899
Severe Canavan Disease
Inability to walk, Lethargy, Nasogastric tube feeding, Feeding difficulties, Gastroesophageal ref... ORPHA:314911
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Gout, Renal corticomedullar... OMIM:603860
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Acute kidney injury, Hyperbilirubinemia, Reduced consciousness/confusion, Thrombocytopenia, Eleva... ORPHA:673
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Feeding difficulties, Chorea, Hemiballismus, Nasogastric tube feeding in infancy, Unstead... ORPHA:494526
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Horseshoe kidney, Recurrent urinary tract infections, Patent ductus arteriosus, Re... OMIM:613680
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Increased level of methylsuccinic acid in urine, Feeding difficulties, Hypert... ORPHA:26792
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Citrullinemia Type I
Coma, Lethargy, Feeding difficulties, Slurred speech, Gastroesophageal reflux, Ataxia, Ankle clon... ORPHA:247525
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Coma, Lethargy, Hyperornithinemia, Spastic paraparesis, Poor coordination, Abnor... OMIM:238970
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia, Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Hyperglycinemia, Hepatomegaly, Thrombocytopenia, Vomiting, Tubulointerstitial nep... OMIM:251000
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy, Fatal liver failure in infancy ORPHA:254857
Postural tremor, Dystonia, Lethargy, Feeding difficulties, Abnormality of extrapyramidal motor fu... ORPHA:352
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormality of the dentition, Abnormal palate morphology, Multicystic kidney dyspl... ORPHA:3270
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Thrombocytopenia, Myoclonus, Nephritis OMIM:274240
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Perioral eczema, Ataxia, Anorexia, Thrombocytopenia, Nausea and vomiting, Organic... ORPHA:79242
Methylmalonic Aciduria, Cbla Type
Coma, Hyperammonemia, Lethargy, Tremor, Hyperglycinemia, Feeding difficulties in infancy, Neutrop... OMIM:251100
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Ebola Hemorrhagic Fever
Coma, Skin rash, Lethargy, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Th... ORPHA:319218
Congenital Pancreatic Cyst
Abdominal pain, Anorexia, Pancreatitis, Vomiting, Abdominal distention ORPHA:313906
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Nephropathy, Vascular dilatation, Dilatation of the cerebral artery, Renal cyst, Renal... OMIM:611773
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Uraciluria, Hyperactivity, Tetraplegia OMIM:274270
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Feeding difficulties, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequ... OMIM:616921
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft upper lip, Cleft palate ORPHA:3316
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Lesch-Nyhan Syndrome
Hematuria, Hyperuricemia, Hemiplegia/hemiparesis, Gout, Anemia, Renal insufficiency, Spasticity ORPHA:510
Kleefstra Syndrome
Delayed eruption of teeth, Macroglossia, Renal insufficiency, Downturned corners of mouth, Microp... ORPHA:261494
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Feeding difficulties, Elevated plasma branched chain amino ... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Lethargy, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Anorexia, Hyperalanine... OMIM:619386
Lujo Hemorrhagic Fever
Coma, Skin rash, Lethargy, Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Nausea a... ORPHA:319213
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Enlarged kidney, Membranoprolif... ORPHA:251004
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Abnormality of the dentition OMIM:615982
Early Myoclonic Encephalopathy
Lethargy, Feeding difficulties, Dysphagia, Myoclonus, Poor suck ORPHA:1935
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Renal hypoplasia, Everted lower lip vermilion, Wide mouth, Abnormality... ORPHA:85321
N-Acetylglutamate Synthase Deficiency
Coma, Lethargy, Increased level of L-glutamic acid in blood, Confusion, Vomiting, Hyperammonemia OMIM:237310
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Anorexia ORPHA:79283
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy, Hemiparesis OMIM:617900
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Gastroesophageal reflux, Renal tubular atrophy, Abdominal ... OMIM:256300
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy, Feeding difficulties in infancy, Renal tubular acidosis, Hepatomegaly, Diarrhea, ... OMIM:255120
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Migraine, Familial Hemiplegic, 1
Hemiplegia, Coma, Tremor, Hemiparesis, Ataxia, Confusion, Drowsiness OMIM:141500
Coma, Tremor, Lethargy, Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Hypertonia, Const... ORPHA:99745
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Megaloblastic anemia, Gait disturbance, Hypomethioninemia, Homocystinuria, Hyperhomocys... OMIM:236270
Methylmalonic Acidemia With Homocystinuria
Skin rash, Gait disturbance, Lethargy, Feeding difficulties ORPHA:26
Propionic Acidemia
Coma, Dystonia, Lethargy, Hyperglycinemia, Feeding difficulties in infancy, Constipation, Neutrop... OMIM:606054
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Micrognathia, Truncus arteriosus, Renal cyst OMIM:228940
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Glomerulonephritis, Glomerular baseme... OMIM:104200
Homocystinuria Without Methylmalonic Aciduria
Vomiting, Lethargy, Ataxia ORPHA:622
Kleefstra Syndrome 1
Macroglossia, Abnormal renal morphology, Micropenis, Mandibular prognathia, Natal tooth, Everted ... OMIM:610253
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:616730
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth, Long penis OMIM:262190
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
Glucose-Galactose Malabsorption
Malnutrition, Hematuria, Hypernatremia, Hyperactive bowel sounds, Abdominal distention, Hypercalc... ORPHA:35710
Hereditary Fructose Intolerance
Hypophosphatemia, Coma, Hypermagnesemia, Lethargy, Abdominal pain, Constipation, Nausea, Chronic ... ORPHA:469
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Feeding difficulties, Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Hepato... OMIM:614922
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Decreased liver function, Renal cyst OMIM:614870
Central Diabetes Insipidus
Lethargy, Nocturia, Excessive daytime somnolence, Hyponatremia, Anorexia, Diarrhea, Nausea and vo... ORPHA:178029
Gaucher Disease, Type Ii
Feeding difficulties, Protuberant abdomen, Dysphagia, Oculomotor apraxia, Hepatomegaly, Thrombocy... OMIM:230900
Maple Syrup Urine Disease
Coma, Lethargy, Elevated plasma branched chain amino acids, Hypertonia, Ataxia, Vomiting, Pancrea... OMIM:248600
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Reduced consciousness/confusion, Discoid lupus rash, Diarrhea, Leukopenia, ... ORPHA:93552
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Horseshoe kidney, Patent ductus arteriosus, Smooth philtrum, Abnormality of the de... ORPHA:363444
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Methylmalonic Aciduria, Cblb Type
Coma, Hyperammonemia, Lethargy, Hyperglycinemia, Feeding difficulties in infancy, Neutropenia, He... OMIM:251110
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Hypertriglyceridem... OMIM:615924
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Spastic diplegia, Increased mean platelet volume, Intestinal pseudo-obstruction, Thrombocytopenia... OMIM:300048
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplen... OMIM:612526
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Anorexia, Elevated... ORPHA:49041
Hypercalcemia, Infantile, 1
Lethargy, Polyuria, Hypercalciuria, Vomiting, Infantile hypercalcemia, Nephrocalcinosis, Nephroli... OMIM:143880
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Midshaft hypospadias, Abnormality of the philtrum, Patent ductus arter... ORPHA:2863
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Pericarditis, Thrombocytopenia, Malar rash, Elevated ci... ORPHA:231111
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Dysphagia, Hyperphenylalaninemia, Hyperkinetic movem... OMIM:233910
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Coronary artery atherosclerosis, Glomerulopathy, Hypertriglyceridemia, Hepatomeg... ORPHA:2348
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Ataxia, Abdominal distention, Gastrointestinal dysmot... OMIM:613662
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Abnormal aortic morphology, Tooth agenesis, Vesicoureteral reflux, Cleft pa... ORPHA:1166
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Multiple Carboxylase Deficiency
Coma, Skin rash, Lethargy, Spastic paraparesis, Feeding difficulties, Ataxia, Organic aciduria, H... ORPHA:148
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Episodic ataxia, Lethargy, Hyperglutaminemia, Ataxia, Protein avoida... OMIM:311250
Scrub Typhus
Skin rash, Tremor, Lethargy, Abdominal pain, Reduced consciousness/confusion, Encephalitis, Anter... ORPHA:83317
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Abnormality of the urinary system, Wide mouth, Thin upper l... OMIM:249630
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Feeding difficulties, Ataxia, Hepatomegaly, Decreased liver function OMIM:246900
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Hemolytic-uremic syndrome, Glomeruloneph... OMIM:615008
Citrullinemia Type Ii
Coma, Hypercholesterolemia, Diarrhea, Hypoalbuminemia, Hyperactivity, Vomiting, Elevated plasma c... ORPHA:247585
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Truncus arteriosus, Enlarged kidney OMIM:615415
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy, Hemiparesis OMIM:613002
Methylcobalamin Deficiency Type Cble
Lethargy, Feeding difficulties, Excessive daytime somnolence, Lower limb hypertonia, Neutropenia,... ORPHA:2169
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Sotos Syndrome 1
Abnormality of the kidney, Narrow palate, Mandibular prognathia, Patent ductus arteriosus, Otitis... OMIM:117550
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Coma, Dystonia, Hypertonia, Tetraparesis, Vomiting, Rigidity, Chorea, Abnormal pyramidal sign, Cr... OMIM:607483
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Abdominal pain, Reticulocytosis, Extramedull... ORPHA:822
Harrod Syndrome
Narrow mouth, Dental malocclusion, Renal cortical microcysts, Hypospadias, High palate, High, nar... OMIM:601095
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Tubulointerstitial Nephritis With Uveitis
Abnormality of the mouth, Panuveitis, Elevated circulating creatinine concentration, Reversible r... OMIM:607665
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Oculomotor apraxi... OMIM:619113
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Hypoargininemia, Lethargy, Ataxia, Protein avoidance, Vomiting, Hype... OMIM:237300
Microphallus, Hyperechogenic kidneys, Enlarged kidney, Micropenis, Natal tooth, Cleft upper lip, ... OMIM:612651
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Renal tubular acidosis, Hemiplegia/hemiparesis, Hepatomegaly, Hepatic failure, Lo... ORPHA:156
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia, ... OMIM:619398
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy, Feeding difficulties in infancy, Acute hyperammonemia, Opisthotonus, Vomiting, Ke... OMIM:210200
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Feeding difficulties, Spasticity OMIM:617105
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Persistence of primary teeth, Glomerulopathy, Arthritis, Vasculit... ORPHA:375
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Urinary bladder sphincter dysfunction, Tremor, Urinary incontinence, Urinary ... OMIM:600363
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Elevat... OMIM:616828
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,... OMIM:613684
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hydrocephalus OMIM:617866
Holocarboxylase Synthetase Deficiency
Coma, Skin rash, Lethargy, Feeding difficulties in infancy, Hypertonia, Thrombocytopenia, Vomitin... OMIM:253270
Tremor, Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Abnormality of extrapyramidal motor function, Neutropenia, Renal insufficiency, Hyperh... OMIM:277400
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hyperuricemia, Hyperlip... OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Carious teeth, Thyroiditis, Hyperuricemia, Gingivitis, Hyperlipidemia, Enla... ORPHA:79259
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Oral ulcer, Elevated circulating creatinine concentration, Synovi... ORPHA:567544
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Transposition of the great arteries, Enlarged kidney OMIM:314390
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Wide mouth, Nephropathy, Hepatomegaly, Renal dysplasia, Renal cys... OMIM:266920
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Feeding difficulties in infancy, Lethargy, Ethylmalonic aciduria OMIM:201470
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Paralysis OMIM:613710
Renal insufficiency, Anemia ORPHA:655
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Decreased plasma total carnitine, Ataxia, Hepatomegaly, Vomiting, Decreased liver... ORPHA:42
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hyperuricemia, Hyperlip... OMIM:232220
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Clumsiness, Incoordination, Feeding difficulties, Speech apr... ORPHA:79239
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Acute hepatic failure, Hepatomegaly, Vomiting, Feeding difficulties in infanc... OMIM:613070
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Lethargy, Decreased plasma total carnitine, Feeding di... OMIM:608836
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor, Nephrotic syndrome ORPHA:401835
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Marburg Hemorrhagic Fever
Skin rash, Lethargy, Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Thrombocytopenia, Di... ORPHA:99826
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia, Micrognathia, Cleft palate OMIM:181180
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Renal hypoplasia, Natal tooth, Patent ductus arteriosus, Hypoplastic facial bo... OMIM:616300
Isovaleric Acidemia
Coma, Lethargy, Hyperglycinuria, Thrombocytopenia, Pancytopenia, Leukopenia, Vomiting OMIM:243500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Elevate... OMIM:231680
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Recurrent otitis media, Oral cle... ORPHA:199306
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Gapo Syndrome
Thick lower lip vermilion, Tubulointerstitial fibrosis, Prominent scalp veins, Abnormality of the... OMIM:230740
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Carious teeth, Abnormality of dental morphology, Mandibular pro... ORPHA:2785
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait imbalance, 3-M... OMIM:618120
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Macroglossia, Enlarged kidney, Focal segmental glomerulosclerosis, Patent du... OMIM:617303
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Feeding difficulties, Hepatomegaly, Hepatic failure, Abdominal distention OMIM:618528
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:181393
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Hepatomegaly, Myoclonus, Vomiting... OMIM:614299
Glycogen Storage Disease Iv
Hepatosplenomegaly, Tubulointerstitial fibrosis OMIM:232500
Cyclic Vomiting Syndrome
Lethargy, Abdominal pain, Nausea, Ataxia, Anorexia, Vomiting, Gastrointestinal dysmotility, Atten... OMIM:500007
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Open mouth, Patent ductus arteriosus, Penoscrotal tran... OMIM:619148
Acute Intermittent Porphyria
Pseudobulbar paralysis, Coma, Respiratory paralysis, Diarrhea, Ileus, Renal insufficiency, Consti... ORPHA:79276
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Neuronal Intestinal Pseudoobstruction
Natal tooth, Patent ductus arteriosus ORPHA:99811
Posterior Urethral Valve
Dysuria, Lethargy, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilate... ORPHA:93110
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Impaired renal concentrating ability, Dagger-shaped pulp calcifications,... OMIM:204690
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Lethargy, Incoordination, Feeding difficulties in infancy, Megaloblastic anemia, Cysta... OMIM:277380
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia, Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidur... OMIM:277410
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyel... OMIM:619365
Sener Syndrome
Natal tooth, Patent ductus arteriosus, Wide mouth, Smooth philtrum, Hypodontia, Eczema, High pala... OMIM:606156
Open bite, Macroglossia, Narrow palate, Craniofacial hyperostosis, Mandibular prognathia, Chronic... ORPHA:61
Raine Syndrome
Enamel hypoplasia, Hypophosphatemia, Narrow mouth, Hydroureter, Mandibular prognathia, Natal toot... OMIM:259775
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora... ORPHA:952
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Hepatomegaly, Diarrhea, Splenomegaly, Poor appetite OMIM:201100
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Mitochondrial Complex I Deficiency, Nuclear Type 4
Vomiting, Lethargy, Myoclonus, Ataxia OMIM:618225
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Vascular dilatation, Hydroureter OMIM:617219
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Microretrognathia, Conjunctivitis, Renal cyst, Dental malocclusion OMIM:615560
Protuberant abdomen, Abnormal renal morphology, Hepatosplenomegaly ORPHA:221054
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Feeding difficulties, Gastroesophageal reflux, Neutropenia, Thrombocytopenia, Methylmal... OMIM:614857
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Transient hyperphenylalaninemia, Cogw... OMIM:128230
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Hyperphenylalaninemia, Bh4-Deficient, A
Poor suck, Dystonia, Choreoathetosis, Tremor, Dysphagia, Hyperphenylalaninemia, Excessive daytime... OMIM:261640
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Trisomy X
Renal hypoplasia/aplasia, Tremor, Attention deficit hyperactivity disorder, Multicystic kidney dy... ORPHA:3375
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Feeding difficulties, Hypoglycemic coma, Hepatomegaly, Drowsiness, Increased C-peptide ... ORPHA:276556
Tyrosinemia, Type I
Paralytic ileus, Gastrointestinal hemorrhage, Enlarged kidney, Hypertyrosinemia, Hypophosphatemic... OMIM:276700
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Cleft upper lip, Cleft palate OMIM:236110
Harrod Syndrome
Narrow mouth, Multicystic kidney dysplasia, Hypospadias, High palate, Dental malocclusion ORPHA:2115
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Hepatomegaly, Microg... OMIM:253250
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Dysphagia, Abnormality of the urinary system, Nasogastric tube feeding... ORPHA:90117
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Coma, Lethargy, Excessive daytime somnolence, Confusion, Hepatomegaly... OMIM:212140
Lead Poisoning
Coma, Skin rash, Abdominal cramps, Abdominal pain, Constipation, Poor fine motor coordination, Na... ORPHA:330015
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Constipation, Resting tremor, Bradykinesia OMIM:616710
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Wide mouth, Renal tubular atrophy, Hepatomegaly, R... OMIM:243910
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Hypospadias, Dental m... OMIM:603463
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Citrullinemia, Classic
Coma, Hypoargininemia, Lethargy, Hyperglutaminemia, Ataxia, Hepatomegaly, Vomiting, Protein avoid... OMIM:215700
Glycerol Kinase Deficiency
Coma, Lethargy, Hypertriglyceridemia, Episodic vomiting, Increased urinary glycerol, Loss of cons... OMIM:307030
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Urinary urgency, Parkinsonism, Rigidity OMIM:605909
Intellectual Disability, Buenos-Aires Type
Open bite, Abnormality of dental morphology, Mandibular prognathia, Hydronephrosis, High palate, ... ORPHA:3079
Rabson-Mendenhall Syndrome
Macroglossia, Long penis, Dental crowding, Enlarged ovaries, Mandibular prognathia, Abnormality o... ORPHA:769
Aicardi-Goutieres Syndrome 6
Dystonia, Tremor, Hemolytic anemia, Loss of ability to walk, Rigidity OMIM:615010
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Complement Factor I Deficiency
Renal insufficiency, Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urina... OMIM:610984
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Feeding difficulties in infancy, Progressive gait ataxia, Vege... ORPHA:309256
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Birk-Landau-Perez Syndrome
Dystonia, Choreoathetosis, Difficulty walking, Oculomotor apraxia, Ataxia, Limb hypertonia, Tubul... OMIM:617595
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Chronic diarrhea, Abdominal distention, Glycosuria OMIM:606824
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Methylmalonic aciduria, Diarrhea,... OMIM:275350
Hypermanganesemia With Dystonia 1
Dystonia, Increased total iron binding capacity, Tremor, Rigidity, Spastic paraparesis, Abnormali... OMIM:613280
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Feeding difficulties, Hypoglycemic coma, Hepatomegaly, Drowsiness, Increased C-peptide ... ORPHA:276575
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Seborrheic dermatitis, Lethargy, Feeding difficulties, Hyperglycinuria, Acute hyperammonemi... OMIM:210210
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Speech apraxia, Abnormal circulating citrulline concentration, Spastic gait, Decreased live... ORPHA:415
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Nephropathy, Giant platelets, Renal ... ORPHA:182050
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Potocki-Lupski Syndrome
Abnormal renal morphology, Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, H... OMIM:610883
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Wolman Disease
Bone-marrow foam cells, Malnutrition, Hepatomegaly, Anemia, Splenomegaly, Nausea and vomiting, He... ORPHA:75233
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hypokal... OMIM:227810
Primary Peritoneal Carcinoma
Peritonitis, Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention ORPHA:168829
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Recurrent pneumonia, Short philtrum, Drooling, Patent ductus arteriosus, Wide ... OMIM:619293
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Colonic Atresia
Abdominal distention OMIM:303650
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Tremor, Lethargy, Hypophosphatemic rickets, Glycosuria, Hepatomegaly, Drowsiness, Abnormal ... ORPHA:263455
Immunodeficiency 49
Short philtrum, Natal tooth, Pulmonary artery stenosis, Micrognathia, Inflammatory abnormality of... OMIM:617237
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Abnormality of the dentition, Vesicoureteral reflux, Thick lower lip vermilion, Abno... ORPHA:261652
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Verheij Syndrome
Long philtrum, Renal hypoplasia, Thin upper lip vermilion, Renal cyst, Renal agenesis OMIM:615583
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Lethargy, Hepatomegaly, Splenomegaly, Increased ser... OMIM:602390
Tremor OMIM:231950
Nephroblastomatosis, Enlarged kidney, Nephrogenic rest, Cystic renal dysplasia, Cleft palate, Mic... OMIM:608022
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hyperlipidemia, Hepatomegaly, Abdominal distention, Proteinuria ORPHA:369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Renal dysplasia, Torticollis, Nephritis, Unilateral renal atrophy OMIM:314300
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology, Nephropathy, Hypocalcemia ORPHA:2238
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Decreased liver function, Diarrhea, Hypoalbuminemia, Anemia, Vomi... OMIM:608104
Teeth Present At Birth
Natal tooth OMIM:187050
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Renal ... OMIM:610205
Mcdonough Syndrome
Open bite, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Dental malocclusion... ORPHA:2471
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Feeding difficulties, Hypoglycemic coma, Hepatomegaly, Drowsiness, Increased C-peptide ... ORPHA:324575
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia, Hyperalaninemia, Choreoathetosis OMIM:312170
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Progressive gait ataxia, Vegetative state, Cholecystitis, Urinary incontine... ORPHA:309263
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Feeding difficulties, Difficulty walking, Blepharospasm, Torticollis, G... ORPHA:99657
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Dengue Fever
Skin rash, Hypoproteinemia, Lethargy, Gastrointestinal hemorrhage, Abdominal pain, Hepatomegaly, ... ORPHA:99828
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dystonia 16
Postural tremor, Dysphagia, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Pa... ORPHA:210571
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis, Cleft palate OMIM:614175
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Dysphagia, Gait disturbance, Nasogastric tube feedi... ORPHA:391417
Senior-Loken Syndrome 1
Nephronophthisis, Anemia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:618348
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Laron Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Tooth agenesis, Hypoplasia of penis, Microdontia... ORPHA:633
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hepatomegaly, Vomiting, Cardiomegaly, Elevated circulating creatine kinase concentratio... OMIM:600649
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Hydroureter, Renal hypoplasia, Natal tooth, Patent ductus art... OMIM:146510
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Persistence of primary teeth, Hydronephrosis, Selective t... OMIM:305620
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Vascular dilatation, Ectopic kidney, Renal agenesis, Ureteral duplication OMIM:602200
Apolipoprotein A-I Deficiency
Hemiplegia/hemiparesis, Splenomegaly, Anemia, Decreased HDL cholesterol concentration ORPHA:425
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Constipation, Enterocolitis, Abdominal distention OMIM:142623
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Feeding difficulties, Hypoglycemic coma, Hepatomegaly, Drowsiness, Increased C-peptide ... ORPHA:276580
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Dysphagia, Ataxia, Urinary incontinence, Parkinsonism, Dys... OMIM:618093
Myopathy, Spheroid Body
Tremor, Dysphagia, Waddling gait, Elevated circulating creatine kinase concentration, Broad-based... OMIM:182920
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Thin upper lip vermilion, Glomer... OMIM:614376
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Parkinsonism-Dystonia, Infantile, 1
Tremor, Feeding difficulties, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements... OMIM:613135
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney ORPHA:1988
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Dysphagia, Ataxia, Babinski sign, Vomiting OMIM:618226
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Meckel Syndrome, Type 8
Abdominal distention, Hyperechogenic kidneys OMIM:613885
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Lethargy, Feeding difficulties, Megaloblastic anemia, Unilateral renal agenesis, Neutr... ORPHA:79284
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Lethargy, Feeding difficulties in infancy, Ataxia, Hepatomegaly... OMIM:253260
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Coma, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutari... OMIM:246450
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Coma, Medium chain dicarboxylic aciduria, Lethargy, Hyperglycinuria, ... OMIM:201450
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Myoclonus, Anemia OMIM:610539
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Coma, Hypercholesterolemia, Hyperglutaminemia, Argi... ORPHA:470
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatomegaly, Hepatic failure, Splenomegaly, Frequent falls, Spasticity OMIM:616719
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Incoordination, Increased blood urea nitrogen, Elevated circulating cr... OMIM:223900
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Dental crowding, Pierre-Robin sequence, Natal tooth, Patent ductus art... OMIM:300373
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Everted lower lip vermilion, Smooth philtrum, Wide mou... OMIM:615873
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Argininosuccinic Aciduria
Coma, Hypoargininemia, Lethargy, Hyperglutaminemia, Feeding difficulties in infancy, Aminoaciduri... OMIM:207900
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Feeding difficulti... ORPHA:765
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypodontia, Cleft upper lip, Hypospadias, Epispadias, Abn... OMIM:225500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Megaloblastic anemia, Anorexia, Thrombocytopenia, Diarrhea ORPHA:49827
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Tremor, Drowsiness, Lethargy ORPHA:276608
Central Neurocytoma
Coma, Lethargy, Ataxia, Babinski sign, Nausea and vomiting ORPHA:73256
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Progressive gait ataxia, Difficulty walking, Vegetative state, Progressive ... ORPHA:309271
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Sotos Syndrome 2
Everted lower lip vermilion, Mandibular prognathia, Advanced eruption of teeth, Narrow mouth OMIM:614753
Meningococcal Meningitis
Skin rash, Lethargy, Projectile vomiting, Reduced consciousness/confusion, Anorexia, Drowsiness, ... ORPHA:33475
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Spastic hemiparesis, Hypoglycemic coma, Hyperuricemia, Anorexia, Diarrhea, Episodic vomitin... ORPHA:20
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Branchial cyst, Branchial fistula... OMIM:113650
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Dysphagia, Gait disturbance, Elevated circulating creatine kinase conc... ORPHA:276435
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apr