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Gene: Chrna3 MGI:87887

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cholinergic receptor, nicotinic, alpha polypeptide 3

Synonyms:

alpha 3, A730007P14Rik, neuronal nicotinic acetylcholine receptor, alpha 3 subunit, Acra-3, (a)3, Acra3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrna3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Chrna3 (1 diseases)
Human diseases predicted to be associated with Chrna3 (1645 diseases)

The table below shows human diseases associated to Chrna3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut		Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800

The table below shows human diseases predicted to be associated to Chrna3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent respiratory infections, Recurrent urinary tract infections, Hypoperistalsis, Abdominal ...	OMIM:619365
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Urethral stricture, Renal dysplasia, Ectropion, Renal duplication, Recurrent...	ORPHA:79403
Iatrogenic Botulism	Fatigue, Orthostatic hypotension, Mydriasis, Xerostomia, Constipation, Urinary retention, Dysphag...	ORPHA:254509
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Inhalational Botulism	Nausea and vomiting, Ptosis, Fatigue, Diarrhea, Xerostomia, Constipation, Urinary retention, Mydr...	ORPHA:254504
Foodborne Botulism	Nausea and vomiting, Ptosis, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retentio...	ORPHA:228371
Adrenomyodystrophy	Megacystis, Abnormality of the urinary system, Abnormal intestine morphology, Megalocornea, Failu...	ORPHA:977
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abdominal pain, Orchitis, ...	ORPHA:556
Wound Botulism	Mydriasis, Urinary retention, Constipation, Dysphagia, Ptosis	ORPHA:178475
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder, Functional abnormality of the gastrointestinal tract	ORPHA:100997
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Microcolon, Megacystis, Sepsis, Fetal megacystis, Neonatal dea...	OMIM:619362
Botulism	Nausea and vomiting, Fatigue, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retenti...	ORPHA:1267
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, Optic atrophy, Choreoathetosis, 3-Methylglutaric aciduria, 3-Methylglutacon...	OMIM:617698
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Multicystic kidney dysplasia, Hyd...	ORPHA:2241
Intellectual Developmental Disorder, X-Linked 29	Long palpebral fissure, Urinary incontinence	OMIM:300419
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Retinal exudate, Urinary incontinence, Feeding difficulties	OMIM:620368
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Spastic Paraplegia 8, Autosomal Dominant	Low back pain, Urinary incontinence, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfun...	OMIM:603563
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Recurrent i...	OMIM:619351
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Rod-cone dystrophy, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:100994
Baralle-Macken Syndrome	Cataract, Urinary incontinence, High, narrow palate, Obesity, Upslanted palpebral fissure, Dystonia	OMIM:619255
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Failure to thrive	OMIM:304800
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:605280
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomiting, Failure to th...	OMIM:143880
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Miosis, Urinary incontinence, Tremor, Decreased sensor...	OMIM:603472
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604805
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Tremor	OMIM:600363
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607152
Attrv30M Amyloidosis	Vitreous floaters, Diarrhea, Weight loss, Constipation, Abnormal autonomic nervous system physiol...	ORPHA:85447
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Developmental ca...	OMIM:231680
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hereditary Coproporphyria	Dark urine, Back pain, Small intestinal dysmotility, Abdominal pain, Porphyrinuria, Increased uri...	ORPHA:79273
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Optic atrophy, 3-Methylglutaconic aciduria, Failure to thrive, Slender build	ORPHA:505216
Acute Intermittent Porphyria	Nausea and vomiting, Dark urine, Renal insufficiency, Back pain, Urinary incontinence, Dysuria, A...	ORPHA:79276
Parkinsonism-Dystonia 2, Infantile-Onset	Fatigue, Oculogyric crisis, Tremor, Elevated urinary homovanillic acid, Abnormal autonomic nervou...	OMIM:618049
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dystonia	OMIM:607565
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency, Myalgia, Dysphagia	OMIM:619027
Autosomal Recessive Frontotemporal Pachygyria	Telecanthus, Urinary incontinence	ORPHA:329329
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder, Abnormality of somatosensory evoked potentials	ORPHA:101007
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary...	OMIM:616963
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Back pain, Abdominal pain, Feeding difficulties in infancy, Abdomina...	ORPHA:2924
Glutathionuria	Eczema, Urinary incontinence, Tremor, Constipation, Glutathionuria, Action tremor	OMIM:231950
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:613096
Arachnoid Cyst	Back pain, Ptosis, Urinary incontinence, Abnormal large intestine physiology, Poor appetite, Abdo...	ORPHA:2356
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Diarrhea, Increased body weight	ORPHA:94086
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Dubin-Johnson Syndrome	Fatigue, Abnormal gastric mucosa morphology, Abnormal urinary color, Abdominal pain	ORPHA:234
Orthostatic Intolerance	Orthostatic tachycardia, Elevated urinary norepinephrine level	OMIM:604715
Siddiqi Syndrome	Urinary incontinence, Limb dystonia	OMIM:618635
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Tremor, Dysphagia, Dystonia	OMIM:618093
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Myositis, Proteinuria...	ORPHA:93552
Complement Factor H Deficiency	Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in...	OMIM:609814
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Spastic Paraplegia 3, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182600
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Xerostomia, Arthralgia, Gastroesophageal reflux, Nausea, Abdominal pain, Bro...	ORPHA:99921
Enuresis, Nocturnal, 1	Enuresis nocturna	OMIM:600631
Enuresis, Nocturnal, 2	Enuresis nocturna	OMIM:600808
Familial Visceral Myopathy	Hydroureter, Aganglionic megacolon, Abdominal distention, Megacystis, Cleft palate, Vesicouretera...	ORPHA:2604
Mannose-Binding Lectin Deficiency	Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ...	OMIM:614372
3-Methylglutaconic Aciduria, Type I	Urinary incontinence, Optic atrophy, Athetosis, 3-Methylglutaconic aciduria, Dystonia, Failure to...	OMIM:250950
Spastic Paraplegia 85, Autosomal Recessive	Torticollis, Optic atrophy, Urinary incontinence, Dysphagia	OMIM:619686
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Obesity, Urinary urgency, Macular degeneration, Dysphagia, Urinary bladder ...	OMIM:604360
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Abnormal urinary color, Back pain, Recurrent respiratory infections, Diarrhe...	ORPHA:90035
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Fatigue, Exercise intolerance, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:368
Autosomal Spastic Paraplegia Type 72	Pain, Urinary bladder sphincter dysfunction, Postural tremor	ORPHA:401849
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Hem...	ORPHA:1473
Porphyria Due To Ala Dehydratase Deficiency	Purple urine, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, I...	ORPHA:100924
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Recurrent respiratory infections, Rod-cone dystrophy, Obesity	OMIM:615633
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Retinopathy, Urinary incontinence	ORPHA:306511
Intestinal Dysmotility Syndrome	Projectile vomiting, Cataract, Abdominal distention, Diarrhea, Decreased intestinal transit time,...	OMIM:620045
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Cold Agglutinin Disease	Nausea and vomiting, Abnormal urinary color, Fatigue, Back pain, Diarrhea, Arthralgia	ORPHA:56425
Sandhoff Disease, Juvenile Form	Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive	ORPHA:309162
Harderoporphyria	Increased urine harderoporphyrin level, Red urine, Increased urinary porphobilinogen, Increased f...	OMIM:618892
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Dystonia, Constipation, Urinary incontinence, Feeding difficulties	OMIM:620094
Spastic Paraplegia 4, Autosomal Dominant	Urinary urgency, Low back pain, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182601
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Urinary bladder sphincter dysfunction	ORPHA:100985
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Tremor, Abnormal cranial nerve ...	ORPHA:97229
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ...	ORPHA:93108
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma, Microphthalmia...	ORPHA:195
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Feeding difficulties in infancy, Ab...	OMIM:248250
Congenital Disorder Of Glycosylation, Type If	Optic atrophy, Renal cortical cysts, Feeding difficulties, Erythroderma, Failure to thrive	OMIM:609180
Spastic Paralysis, Infantile-Onset Ascending	Urinary incontinence, Dysphagia	OMIM:607225
Autosomal Dominant Spastic Paraplegia Type 6	Postural tremor, Urinary incontinence	ORPHA:100988
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis...	OMIM:615993
Infant Botulism	Ptosis, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Keratoconjunctivitis sicca, Con...	ORPHA:178478
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency, Dysphagia	OMIM:610250
Hartnup Disease	Glossitis, Abnormal urinary color, Skin rash, Malabsorption, Infectious encephalitis, Neutral hyp...	ORPHA:2116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Hepatic failure, Microcolon	OMIM:619431
Variant Abeta2M Amyloidosis	Shoulder pain, Intestinal perforation, Chronic kidney disease, Gastrointestinal infarctions, Rena...	ORPHA:314652
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Failure to thrive, Highly arched eyebrow, Feeding difficulties	ORPHA:500533
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr...	ORPHA:330001
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal...	ORPHA:228302
Intellectual Developmental Disorder, X-Linked 90	Upslanted palpebral fissure, Enuresis, High palate, Bifid uvula	OMIM:300850
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Vomiting, Distal renal tubular acidosis, Failure to thrive	OMIM:602722
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Spastic Paraplegia 54, Autosomal Recessive	Telecanthus, Urinary incontinence, Bowel incontinence, Optic nerve hypoplasia, Constipation, High...	OMIM:615033
Uveal Melanoma	Retinal detachment, Iris melanoma, Ocular pain, Inferior lens subluxation, Abnormal fundus morpho...	ORPHA:39044
Serotonin Syndrome	Tremor, Diarrhea, Hepatic failure, Abnormality of the autonomic nervous system, Acute kidney inju...	ORPHA:43116
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:656
Spastic Paraplegia 10, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604187
Becker Muscular Dystrophy	Exercise intolerance, Abnormal urinary color, Fatigue, Myalgia, Myoglobinuria	ORPHA:98895
Spastic Paraplegia 5A, Autosomal Recessive	Postural tremor, Cataract, Optic atrophy, Urinary incontinence	OMIM:270800
Autosomal Dominant Spastic Paraplegia Type 73	Urinary urgency, Urinary incontinence	ORPHA:444099
Intestinal Botulism	Nausea and vomiting, Ptosis, Diarrhea, Xerostomia, Dysphagia, Mydriasis	ORPHA:178481
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting, Failure to thrive	OMIM:239199
Bardet-Biedl Syndrome 10	Renal insufficiency, Retinal dystrophy, Obesity, Renal cyst, Rod-cone dystrophy	OMIM:615987
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Arthritis, Urinary incontinence	ORPHA:320365
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Cataract, Bone spicule pigmentation of the retina, Urinary in...	OMIM:609033
Spastic Paraplegia 16, X-Linked	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:300266
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Optic atrophy, Urinary incontinence, Dystonia	OMIM:612319
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail...	OMIM:606824
Spinocerebellar Ataxia 42	Urinary urgency, Tremor, Urinary incontinence, Dysphagia	OMIM:616795
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Hypospadias, Protruding tongue, Brushfield spots, High, ...	OMIM:214100
Mpdu1-Cdg	Eczema, Optic atrophy, Renal cortical cysts, Feeding difficulties, Nasogastric tube feeding	ORPHA:79323
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Abdominal distention, Renal cyst	OMIM:174050
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:567548
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Syringomyelia, Noncommunicating Isolated	Urinary incontinence, Horner syndrome, Neck pain	OMIM:186700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Xerostomia, Anteriorly placed anus, Ureterocele, Vesicoureteral reflux, ...	OMIM:604292
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Urinary incontinence, Dysphagia	OMIM:249900
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated urine pyrophosphate, Anorexia, Hypercalciuria, Nephroc...	OMIM:241500
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Hiatus hernia, Urinary urgency, Vomiting, Urinary hesitancy, Nocturia	OMIM:609727
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Pure Autonomic Failure	Orthostatic hypotension, Dysuria, Urinary incontinence, Constipation, Abnormal autonomic nervous ...	ORPHA:441
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Epicanthus, Renal insufficiency, Hypospadias, Retinal dystrophy...	ORPHA:397715
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Renal cyst, Steatorrhea, Hepatic failure, Fat malabsorption, Fa...	ORPHA:79303
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial I...	OMIM:613496
Glycogen Storage Disease V	Dark urine, Exercise-induced myalgia, Myoglobinuria, Exercise intolerance	OMIM:232600
Meckel Syndrome, Type 8	Anophthalmia, Abdominal distention, Cleft palate, Polycystic kidney dysplasia, Microphthalmia, Hy...	OMIM:613885
Volvulus Of Midgut	Telecanthus, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Const...	OMIM:193250
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Optic atrophy, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfun...	OMIM:607259
Spastic Paraplegia 48, Autosomal Recessive	Retinopathy, Urinary incontinence	OMIM:613647
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Dystonia, Anorexia, Oral-pharyngeal dysphagia, Tremor,...	ORPHA:2131
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas...	OMIM:613662
Basal Ganglia Calcification, Idiopathic, 1	Tremor, Athetosis, Urinary incontinence, Dystonia	OMIM:213600
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft palate, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Rod-cone dystrophy...	OMIM:248190
Paget Disease Of Bone 6	Nephrocalcinosis, Osteoarthritis, Bone pain	OMIM:616833
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Tetanus	Rigors, Bowel incontinence, Abdominal pain, Elevated urinary norepinephrine level, Tremor, Elevat...	ORPHA:3299
Orofaciodigital Syndrome Xviii	Upslanted palpebral fissure, Urinary incontinence	OMIM:617927
Immunoneurologic Disorder, X-Linked	Neonatal death, Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Unilateral Focal Polymicrogyria	Urinary incontinence, Abnormality of somatosensory evoked potentials	ORPHA:268947
Hyperbiliverdinemia	Decreased liver function, Green urine	OMIM:614156
Blue Diaper Syndrome	Nephrocalcinosis	OMIM:211000
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Toxin-Mediated Infectious Botulism	Ptosis, Constipation, Mydriasis, Dysphagia	ORPHA:230800
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Hypospadias, Recurrent pneumonia, Megacystis, Choreoathetosis, ...	ORPHA:209905
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Optic atrophy, Hydronephrosis, Abnormal autonomic nervous system physiology	OMIM:598500
Adiposis Dolorosa	Fatigue, Abdominal distention, Chronic pain, Obesity, Arthralgia, Constipation	OMIM:103200
Dent Disease	Bone pain, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuria, Tubulointerstitial ...	ORPHA:1652
Mosaic Trisomy 1	Renal cyst, Cleft palate, Congenital bilateral ptosis, Renal cortical cysts, Opacification of the...	ORPHA:1692
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Feeding difficulties in infancy, Renal cortical cysts, Astigmatism, Vesicoureteral r...	OMIM:618548
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Urinary incontinence	OMIM:615284
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Cataract, Small for gestational age, Palpebral edema, Hypospadias, Feeding difficulti...	OMIM:614866
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Spastic Paraplegia 46, Autosomal Recessive	Cataract, Urinary incontinence, Hand tremor, Head tremor	OMIM:614409
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial n...	ORPHA:157
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Feeding difficulties in infancy, Obesity, Enuresis, Downslanted pal...	OMIM:613670
Spastic Paraplegia 76, Autosomal Recessive	Urinary incontinence	OMIM:616907
Porphyria, Acute Intermittent	Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation,...	OMIM:176000
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hepatocellular carcinoma, Abdominal distention, Hypercalciuria, Generalized am...	ORPHA:2088
Amyotrophic Dystonic Paraplegia	Urinary incontinence, Bowel incontinence, Dystonia	OMIM:105300
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill...	ORPHA:2290
Mixed-Type Autoimmune Hemolytic Anemia	Fatigue, Abnormal urinary color, Arthralgia, Skin rash	ORPHA:90036
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Anorexia, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thrive	OMIM:611590
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Abdominal distention, Hepatocellular carcinoma, Postexert...	ORPHA:369
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Fatigue, Recurrent respirato...	ORPHA:538
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Small intes...	ORPHA:298
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, C...	OMIM:240300
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Slender build, Feeding difficulties	OMIM:611087
Fatal Familial Insomnia	Weight loss, Urinary retention, Constipation, Abnormal autonomic nervous system physiology, Dysph...	OMIM:600072
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Fe...	ORPHA:466722
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Urinary incontinence, Tremor, Urinary urgency, Abnormal au...	OMIM:146500
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Abdominal pain, Intestinal perforation, Flank pain, Tremor, Bloo...	ORPHA:90068
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Epicanthus, Sparse eyelashes, Urinary incontinence, Sparse eyebrow, Feeding difficulties, Upslant...	OMIM:620070
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Failure to thrive, Optic atrophy	OMIM:274270
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco...	OMIM:613404
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Tremor, Diarrhea, Amyloid deposition in the vitreous humor, Constipation, A...	OMIM:105210
Perineural Cyst	Shoulder pain, Recurrent urinary tract infections, Low back pain, Urinary incontinence, Bowel inc...	ORPHA:65250
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Spinocerebellar Ataxia 17	Intention tremor, Dystonia, Urinary incontinence, Dysphagia	OMIM:607136
Familial Mediterranean Fever	Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Arthralgia...	ORPHA:342
Polyglucosan Body Neuropathy, Adult Form	Neurogenic bladder, Urinary incontinence, Orthostatic hypotension	OMIM:263570
Hemolytic Anemia, Congenital, X-Linked	Dark urine	OMIM:301015
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Hypospadias, Highly arched eyebrow, Synophrys, Feeding difficulties, Ups...	ORPHA:363528
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Cataract, Functional abnormality of the bladder	ORPHA:2571
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, M...	OMIM:104200
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Bowel incontinence, Urinary urgency, Macular degeneration, Urinary bladder ...	OMIM:270700
Cherubism	Macular scar, Optic neuropathy, Narrow palate, Lower eyelid retraction, Marcus Gunn pupil	OMIM:118400
Acrocephalopolydactyly	Epicanthus, Abnormal renal morphology, Protuberant abdomen	ORPHA:221054
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Tremor, Urinary urgency, Constipation, Abnormal autonomic nervous syste...	OMIM:168600
Duplication Of Urethra	Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadias, Anorectal an...	ORPHA:237
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Urinary incontinence, Feeding difficulties in infancy, Tremor, Synophrys, Congenital ...	ORPHA:476126
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Urinary incontinence, Decreased amplitude of sensory a...	OMIM:616688
Porphyria Variegata	Back pain, Neurogenic bladder, Abdominal pain, Ileus, Chronic kidney disease, Porphyrinuria, Incr...	ORPHA:79473
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Red-brown urine, Episodic abdominal pain, Exercise-induced myalgia, Myalgia...	ORPHA:228305
Paganini-Miozzo Syndrome	Downslanted palpebral fissures, Urinary incontinence, Feeding difficulties	OMIM:301025
Glucose-Galactose Malabsorption	Renal insufficiency, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Neph...	ORPHA:35710
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Bowel incontinence, Optic atrophy, Dysphagia, Dystonia	OMIM:618868
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Recurrent respiratory infections, Corneal opacity, Large for gestational age, Microcornea, Microp...	ORPHA:2432
C Syndrome	Epicanthus, Renal cortical cysts, Upslanted palpebral fissure, High palate, Failure to thrive	OMIM:211750
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Bone pain, Stage 5 chronic kidney...	OMIM:300009
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Drug-Induced Autoimmune Hemolytic Anemia	Fatigue, Abnormal urinary color	ORPHA:90037
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Spastic Paraplegia 9A, Autosomal Dominant	Resting tremor, Cataract, Urinary incontinence, Hiatus hernia, Urinary urgency, Gastroesophageal ...	OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Urinary incontinence	ORPHA:100989
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Urinary incontinence, Head tremor	ORPHA:320391
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting	ORPHA:564178
Machado-Joseph Disease	Dystonia, Chronic pain, Abnormal autonomic nervous system physiology, Dysphagia, Urinary bladder ...	OMIM:109150
Intellectual Developmental Disorder, Autosomal Recessive 70	Urinary incontinence	OMIM:618402
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol...	ORPHA:416
Spastic Paraplegia 44, Autosomal Recessive	Constipation, Urinary incontinence, Intention tremor	OMIM:613206
Familial Isolated Hyperparathyroidism	Abdominal symptom, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis	ORPHA:99879
Neuromyelitis Optica Spectrum Disorder	Ocular pain, Functional abnormality of the bladder, Optic neuritis, Recurrent singultus, Nausea, ...	ORPHA:71211
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Fati...	ORPHA:85443
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Urinary incontinence, Tremor, Pseudobulbar paralysis, Urinary retention	OMIM:616586
Autosomal Dominant Centronuclear Myopathy	Urinary incontinence, Large for gestational age, Pyloric stenosis, Exercise-induced myalgia, Ptosis	ORPHA:169189
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality...	ORPHA:92050
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Cataract, Renal cyst, Feeding difficulties, Nephrocalcinosis, Opisthotonus, ...	ORPHA:445038
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Retinal dystrophy, Obesity, Dystonia	ORPHA:464282
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, Renal tubular e...	ORPHA:228308
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract, Miosis	OMIM:156850
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Urinary incontinence, Bowel incontinence, Optic atrophy, Hand tremor, Dysphagia	ORPHA:289560
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:363722
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Bowel incontinence	OMIM:236690
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Bone pain, Nephrolithiasis, Renal cys...	ORPHA:18
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ...	OMIM:616022
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Feeding difficulties	OMIM:617105
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting	OMIM:618314
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Spinocerebellar Ataxia Type 25	Urinary urgency, Vomiting, Episodic abdominal pain	ORPHA:101111
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Al...	ORPHA:51890
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Chronic lymphocytic meningi...	OMIM:209920
Huntington Disease-Like 3	Urinary incontinence, Bowel incontinence, Dystonia	OMIM:604802
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence	OMIM:602099
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Urinary incontinence, Decreased nerve conduction velocity, Constipatio...	OMIM:604320
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Tremor, Urinary incontinence, Dystonia	OMIM:617145
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoa...	OMIM:208085
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Recurrent streptococcus pneumoniae infections, Urinary incontinence, Re...	ORPHA:225147
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Dystonia	OMIM:600795
Myxopapillary Ependymoma	Autonomic bladder dysfunction, Vomiting, Abnormal large intestine physiology, Neck pain	ORPHA:251643
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Mydriasis, Facial palsy, Pneumonia, Severe infection, ...	ORPHA:79138
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Renal ...	ORPHA:85284
Oculoskeletodental Syndrome	Nephrocalcinosis, Epicanthus, Developmental cataract	ORPHA:557003
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Miller Fisher Syndrome	Mydriasis, Facial palsy, Anisocoria, Vomiting, Dysphagia, Ptosis	ORPHA:98919
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria, Abdominal pain	OMIM:600989
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Erythermalgia, Primary	Erythromelalgia, Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Abnormal autonom...	OMIM:133020
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Peters anomaly, Optic atrophy, Vesicoureteral reflux, Feeding difficulti...	ORPHA:494344
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Obesity, A...	OMIM:300310
Fabry Disease	Renal insufficiency, Proteinuria, Corneal dystrophy, Abdominal pain, Diarrhea, Tenesmus, Urinary ...	OMIM:301500
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Urinary incontinence	OMIM:613115
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Malabsorption, Band keratopathy, Diarrhea, Bicarbonaturia, Bicarbona...	ORPHA:47159
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Titubation, Urinary urgency,...	ORPHA:98768
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Abdominal distention, Corneal erosion, Optic disc c...	OMIM:270420
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Optic atrophy, Constipation, Abnormal autonomic nervous system physiology	ORPHA:466934
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Intention tremor, Hypermyelinated retinal nerve fibers, Urinary incontinence, Dysphagia	ORPHA:98
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Tremor,...	ORPHA:329478
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a...	OMIM:617666
Mirizzi Syndrome	Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Pancreatitis, Vomiti...	ORPHA:521219
Xq28 (MECP2) duplication	Recurrent respiratory infections, Feeding difficulties in infancy, Functional abnormality of the ...	DECIPHER:45
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Feeding difficulties, Buphthalmos, Nephrocalcinosis, High palate, Recurrent lower respiratory tra...	OMIM:618005
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis	OMIM:610743
Isolated Biliary Atresia	Small for gestational age, Dark yellow urine, Xanthelasma, Acholic stools, Decreased liver functi...	ORPHA:30391
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Optic atrophy, Constipation, Abnormal autonomic nervous system physiology	OMIM:616683
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Loss of eyelashes, Red-brown urine, Red urine, Keratoconjunc...	ORPHA:95159
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Abnormality iris morphology, Cleft palate, Microphthalmia, F...	ORPHA:1617
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Feeding ...	ORPHA:3463
Autoimmune Hemolytic Anemia, Warm Type	Fatigue, Abnormal urinary color, Arthralgia	ORPHA:90033
Pierpont Syndrome	Telecanthus, Feeding difficulties, Microcornea, Narrow palpebral fissure, Micropenis, Decreased b...	OMIM:602342
Currarino Syndrome	Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Peri...	OMIM:176450
Episodic Pain Syndrome, Familial, 3	Pain, Abnormal autonomic nervous system physiology	OMIM:615552
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,...	ORPHA:99027
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Facial palsy, Cleft palate, Feeding difficulties, Dysphagia, Ptosis	OMIM:301041
Lesch-Nyhan Syndrome	Dystonia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Opisthotonus, Choreoathetosis, Vomi...	OMIM:300322
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Osteomyelitis, Urinary incontinence, Diarrhea, Osteoarthritis, Hand tremor, Consti...	OMIM:608654
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Peroxisome Biogenesis Disorder 14B	Urinary incontinence, Developmental cataract	OMIM:614920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Urinary incontinence, Macular degeneration, Abnormal autonomic nervous system phy...	ORPHA:247234
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis...	ORPHA:79259
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Optic atrophy, Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Aminoaciduria,...	OMIM:617913
Apparent Mineralocorticoid Excess	Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodium concentration, Nephrocalcino...	ORPHA:320
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, High palate, Microphthalmia	ORPHA:2528
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Dystonia, Urinary incontinence, Cachexia, Head titubation, Opisthotonus, Arm dyst...	ORPHA:300605
Combined Oxidative Phosphorylation Deficiency 55	Epicanthus, Stage 3 chronic kidney disease, Bilateral ptosis, Enuresis, Renal Fanconi syndrome, C...	OMIM:619743
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis	ORPHA:313906
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Ramos-Arroyo Syndrome	Aganglionic megacolon, Feeding difficulties in infancy, Keratitis, Dacryocystitis, Absent retinal...	ORPHA:1051
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis	OMIM:179800
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Orbital cyst	OMIM:251505
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni...	ORPHA:911
Persistent Idiopathic Facial Pain	Chronic pain, Abnormal autonomic nervous system physiology	ORPHA:398147
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Bone pain, Nephrolithiasis, Hypercalciuria, Nephroca...	OMIM:300554
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Abdominal colic, Proteinuria, Dysuria, Recurrent urinary tract infections, F...	ORPHA:976
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation, Abnormal autonomic nervous system physiology	OMIM:615548
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Gastrointestinal ...	ORPHA:453499
Myopathy, Myofibrillar, 7	Tongue atrophy, Urinary incontinence, Bowel incontinence, Facial palsy, Enuresis nocturna, Myalgi...	OMIM:617114
Acro-Renal-Ocular Syndrome	Renal malrotation, Epicanthus, Cataract, Aganglionic megacolon, Optic disc hypoplasia, Renal hypo...	ORPHA:959
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete...	ORPHA:2795
Trisomy 20P	Epicanthus, Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Abnormality of the ure...	ORPHA:261318
Spinocerebellar Ataxia 10	Urinary urgency, Decreased nerve conduction velocity, Urinary incontinence, Dysphagia	OMIM:603516
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Calcium oxala...	OMIM:259900
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Dystonia, Urinary incontinence, Bowel incontinence, Sparse eyebrow, Recurrent...	ORPHA:496641
Spinocerebellar Ataxia Type 42	Resting tremor, Psoriasiform dermatitis, Urinary incontinence, Upper limb postural tremor, Urinar...	ORPHA:458803
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cleft palate, Recurrent otitis media, Multiple bladder diverticula, Blepharophimosis...	ORPHA:2728
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc...	OMIM:615398
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M...	ORPHA:83471
Paraparetic Variant Of Guillain-Barré Syndrome	Sciatica, Pain, Urinary bladder sphincter dysfunction, Recurrent acute respiratory tract infection	ORPHA:231445
Childhood Disintegrative Disorder	Urinary incontinence, Bowel incontinence	ORPHA:168782
Metachromatic Leukodystrophy	Dystonia, Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Decreased nerve ...	ORPHA:512
Plague	Glossitis, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumo...	ORPHA:707
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Angi...	OMIM:211900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoaciduria, Glyco...	OMIM:616026
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Huntington Disease-Like 3	Urinary incontinence, Bowel incontinence, Dystonia	ORPHA:157946
Trichohepatoenteric Syndrome 1	Villous atrophy, Small for gestational age, Hypospadias, Renal cortical microcysts, Galactosuria,...	OMIM:222470
Parathyroid Carcinoma	Nausea and vomiting, Fatigue, Renal insufficiency, Peptic ulcer, Renal hamartoma, Bone pain, Neph...	ORPHA:143
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:601198
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology, Urinary inconti...	OMIM:243000
Mitchell Syndrome	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:618960
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Epicanthus, Cataract, Retinal pigment epithelial mottling...	OMIM:614105
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Cataract	OMIM:146200
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,...	ORPHA:369873
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Gastroesophageal reflux, Abnormal autonomic nervous system physiology	ORPHA:168593
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Lacrimal duct stenosis, Sparse eyebr...	ORPHA:73246
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Feeding difficulties in infancy, Abnormal pupil morphology, Oligosacchar...	ORPHA:534
Renal Nutcracker Syndrome	Fatigue, Orthostatic hypotension, Proteinuria, Abdominal pain, Flank pain, Weight loss, Hematuria...	ORPHA:71273
Autosomal Dominant Spastic Paraplegia Type 38	Urinary incontinence	ORPHA:171617
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Urinary incontinence, Bowel incontinence	ORPHA:100993
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Decreased nerve cond...	ORPHA:309256
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin rash, A...	ORPHA:36412
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Urinary incontinence, Bowel incontinence, Dysphagia, Decreased body weight, Thick eyebrow	OMIM:300243
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Feeding difficulties, Astigmatism, Constipation, Downslanted palpebral fiss...	OMIM:618885
Foix-Alajouanine Syndrome	Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Functiona...	ORPHA:79093
Dystonia-Aphonia Syndrome	Generalized dystonia, Macroglossia, Abnormal urinary odor, Dysphagia, Oromandibular dystonia	ORPHA:412217
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Oligosacchariduria, Furrowed tongu...	ORPHA:2483
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Marchiafava-Bignami Disease	Facial palsy, Malnutrition, Vomiting, Urinary incontinence	ORPHA:221074
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Urinary incontinence, Bowel incontinence, Action tremor, Myalgia...	OMIM:300623
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Corneal opacity, Microscopic hematuria, Minimal change glomerulonephri...	ORPHA:1830
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Beta-Propeller Protein-Associated Neurodegeneration	Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:329284
Metachromatic Leukodystrophy, Adult Form	Dystonia, Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdomina...	ORPHA:309271
Spinocerebellar Ataxia 2	Postural tremor, Urinary incontinence, Urinary bladder sphincter dysfunction, Dysphagia, Rod-cone...	OMIM:183090
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, C...	ORPHA:309263
Scorpion Envenomation	Pain, Acute pancreatitis, Ketonuria, Miosis, Abdominal pain, Tremor, Myocarditis, Diarrhea, Vomit...	ORPHA:466677
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Nasogastric tube feeding in infancy, Obesity, Renal cyst, Hypercalciuria, Up...	ORPHA:369837
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Bowel incontinence, Sparse eyebrow, Synophrys, Optic atrophy, Feeding diffi...	OMIM:617193
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Chronic diarrhea, Ep...	OMIM:268800
Lead Poisoning	Fatigue, Small for gestational age, Skin rash, Anorexia, Abdominal pain, Abdominal distention, Ch...	ORPHA:330015
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Constipation, Abnormal autonomic nervous system ...	ORPHA:102
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad...	ORPHA:2547
Acute Transverse Myelitis	Back pain, Fatigue, Orthostatic hypotension, Invasive parasitic infection, Gastroparesis, Urinary...	ORPHA:139417
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency, Resting tremor, Dystonia	OMIM:605909
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Autosomal Dominant Hypocalcemia	Eczema, Writer's cramp, Abdominal pain, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Fatigabl...	ORPHA:428
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Fatigue, Renal insufficiency, Peptic ulcer, Renal hamartoma, Bone pain, Neph...	ORPHA:99880
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence	OMIM:221770
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abdominal distention, Congenital pyloric atresia, Ap...	ORPHA:158684
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary urgency, Decreased distal sensory nerve action potential, Urinary incontinence	OMIM:606071
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Micropenis, Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Postural tremor, Neuromuscular dysphagia, Constipation, Abnormal ...	ORPHA:227510
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Hydroureter,...	ORPHA:2970
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Constipation, Abnormal autonomic nervous system ...	ORPHA:98933
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Increased stool urobilinogen concentration, Loss of eyelashe...	ORPHA:79277
Thomas Syndrome	Multicystic kidney dysplasia, Downslanted palpebral fissures, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity	ORPHA:73229
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Chiari Malformation Type I	Neck pain, Urinary incontinence, Dysphagia	OMIM:118420
Pituitary Apoplexy	Nausea and vomiting, Fatigue, Mydriasis, Trigeminal neuralgia, Ptosis	ORPHA:95613
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Hypomagnesiuria, Fatigue, Peptic ulcer, Parathormone-independent increased r...	ORPHA:405
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Renal insufficiency, Paral...	OMIM:276700
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Urinary incontinence, Feeding difficulties, Recurrent infections, Astigmatism, Gastro...	OMIM:619934
Isolated Epispadias	Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence	ORPHA:93928
Neural Tube Defects, Susceptibility To	Urinary incontinence	OMIM:182940
Porphyria, Congenital Erythropoietic	Absent eyebrow, Loss of eyelashes, Red urine, Corneal scarring, Increased fecal coproporphyrin 1,...	OMIM:263700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Arthralgia, Pulmonary tuberculosis, Cho...	ORPHA:183675
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Neonatal death, Decreased liver function, Renal cyst	OMIM:614870
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota...	OMIM:241200
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Highly arched eyebrow, Synophrys, Feeding difficulties, Urinary urgency, Long eyelashes...	OMIM:619286
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Urinary incontinence, Bowel incontinence, Tremor, Head titubation, Choreoathetosis...	OMIM:618877
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Nocturia	ORPHA:178029
Sepsis In Premature Infants	Neonatal sepsis, Small for gestational age, Disseminated viral infection, Abdominal distention, G...	ORPHA:90051
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Dysphagia, Abnormal autonomic nervous system physiology, Dystonia, Intention ...	ORPHA:171695
Amyotrophic Lateral Sclerosis 2, Juvenile	Generalized dystonia, Dystonia, Urinary incontinence, Head titubation, Opisthotonus, Arm dystonia...	OMIM:205100
Trisomy X	Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Upslanted palpebral f...	ORPHA:3375
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Stillbirth, Hepatic failure, Mydriasis	OMIM:259720
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Nonarteritic anterior ischemic optic neuropathy, Pseudobulbar paralysis, Urinary incontinence	OMIM:125310
Immunodeficiency, Common Variable, 2	Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Re...	OMIM:240500
Trisomy 13	Cataract, Anophthalmia, Abnormal eyelash morphology, High, narrow palate, Abnormal retinal vascul...	ORPHA:3378
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma, Protuberant abdomen, Large for gestational age	OMIM:618272
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota...	OMIM:601678
Athyreosis	Fatigue, Abdominal distention, Feeding difficulties, Macroglossia, Constipation	ORPHA:95713
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra...	OMIM:613501
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Urinary incontinence, Tremor, Developmental cataract, Urinary urgency, Pollakisuri...	ORPHA:447753
Cockayne Syndrome	Miosis, Urinary incontinence, Feeding difficulties in infancy, Lentiglobus, Gastroesophageal refl...	ORPHA:191
Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence	OMIM:300100
Nephrogenic Diabetes Insipidus	Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bl...	ORPHA:223
Encephalitis Lethargica	Urinary incontinence, Bowel incontinence, Recurrent viral infections, Tremor, Limb pain, Myalgia	ORPHA:83600
Neuroleptic Malignant Syndrome	Fatigue, Rigors, Proteinuria, Urinary incontinence, Oculogyric crisis, Tremor, Sepsis, Vomiting, ...	ORPHA:94093
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Foot osteomyelitis, Abnormal autonomic nervous system ...	ORPHA:139578
Cat Eye Syndrome	Anal stenosis, Epicanthus, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia...	OMIM:115470
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Malabsorption, Abdominal distention, Hy...	OMIM:227810
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Obesity, Renal cyst, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Autosomal Recessive Ataxia, Beauce Type	Arm dystonia, Urinary incontinence, Ptosis	ORPHA:88644
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	OMIM:300915
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Bone pain, Hypercalciuria, Nephrolithiasis, Medullary nephrocalcinosis	ORPHA:157215
Fragile X-Associated Tremor/Ataxia Syndrome	Bowel incontinence, Pollakisuria, Myalgia, Abnormal autonomic nervous system physiology, Dysphagi...	ORPHA:93256
Postinfectious Vasculitis	Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla...	ORPHA:48435
Beckwith-Wiedemann Syndrome	Vesicoureteral reflux, Renal cortical cysts, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Hep...	OMIM:130650
Glycogen Storage Disease Ib	Proteinuria, Lipemia retinalis, Nephrolithiasis, Gout, Xanthelasma, Inflammation of the large int...	OMIM:232220
Bartter Syndrome Type 4	Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaired renal concen...	ORPHA:89938
Williams-Beuren Syndrome	Feeding difficulties in infancy, Rectal prolapse, Sudden death, Nephrocalcinosis, Gastroesophagea...	OMIM:194050
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Corneal opacity, Abnormality of the...	ORPHA:1764
Seckel Syndrome 2	Small for gestational age, Hypospadias, Ectopic kidney, Microphthalmia, Microglossia	OMIM:606744
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder, Hand tremor, Pigmentary retinopathy, Pseudobulbar paralysi...	ORPHA:100996
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Urinary bladder sphincter dysfunction, Postural tremor	ORPHA:3115
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Joubert Syndrome 35	Telecanthus, Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyeb...	OMIM:618161
Biemond Syndrome Type 2	Microphthalmia, Hypospadias, Obesity	ORPHA:141333
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Renal ins...	ORPHA:160
Wilson Disease	Acute hepatic failure, Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Vomiting, Limb dystoni...	OMIM:277900
Spastic Paraplegia Type 2	Recurrent respiratory infections, Optic atrophy, Spastic/hyperactive bladder, Bowel incontinence	ORPHA:99015
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Urinary incontinence...	ORPHA:101085
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Urinary incontinence, Bowel incontinence	OMIM:600142
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency, Dystonia	ORPHA:314603
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Recurrent urinary tract infections, Sparse eyelashes, Hypospadias, Highly arched eyeb...	OMIM:619293
Adrenomyeloneuropathy	Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Urinary urgency, Urinary retention,...	ORPHA:139399
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Adnp Syndrome	Recurrent urinary tract infections, Urinary incontinence, Oral-pharyngeal dysphagia, Bilateral pt...	ORPHA:404448
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Urinary incontinence, Head tremor, Dysphagia	ORPHA:352641
Intellectual Developmental Disorder, X-Linked 98	Steroid-dependent nephrotic syndrome, Urinary incontinence, Episodic vomiting, Feeding difficulti...	OMIM:300912
Rhyns Syndrome	Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis, Ptosis	ORPHA:140976
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Anal at...	OMIM:619318
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Retinal hemorrhage, Angioid s...	ORPHA:758
Shwachman-Diamond Syndrome 1	Small for gestational age, Recurrent infections, Nephrocalcinosis, Steatorrhea, Failure to thrive	OMIM:260400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Metachromatic Leukodystrophy	Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Dystonia	OMIM:250100
Thyroid Hemiagenesis	Fatigue, Macroglossia, Constipation, Abdominal distention	ORPHA:95719
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Nanophthalmos 2	Microphthalmia	OMIM:609549
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia, Cataract, Small for gestational age	OMIM:278780
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa...	ORPHA:85450
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti...	ORPHA:572
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Skin rash, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:275
Liver Failure, Infantile, Transient	Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Feeding difficultie...	OMIM:613070
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis m...	OMIM:612692
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Renal hypoplasia/aplasia, Microphthalmia, Downslanted palpebral ...	ORPHA:1438
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom...	OMIM:120200
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus...	OMIM:613493
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft palate, Anter...	OMIM:618494
Williams Syndrome	Hypoplasia of penis, Tremor, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalci...	ORPHA:904
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Urinary incontinence, Bowel incontinence, Gastroesophageal reflux, Neonatal death,...	OMIM:616482
Glycogen Storage Disease Ia	Proteinuria, Lipemia retinalis, Nephrolithiasis, Gout, Xanthelasma, Focal segmental glomeruloscle...	OMIM:232200
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,...	ORPHA:275761
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency, Dystonia	OMIM:618418
Posttransplant Acute Limbic Encephalitis	Sepsis, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:163921
Qazi-Markouizos Syndrome	Torticollis, High, narrow palate, Abdominal distention, Recurrent infections, Chronic constipation	ORPHA:3010
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Trisomy 8P	Fetal pyelectasis, Malrotation of small bowel, Recurrent upper respiratory tract infections, Clef...	ORPHA:264450
Spastic Paraplegia Type 7	Optic disc pallor, Optic atrophy, Urinary urgency, Dysphagia, Lower limb pain	ORPHA:99013
Knobloch Syndrome 1	Persistent pupillary membrane, Renal duplication, Attenuation of retinal blood vessels, Chorioret...	OMIM:267750
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Spinocerebellar Ataxia Type 19/22	Urinary incontinence	ORPHA:98772
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal...	ORPHA:95455
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis	ORPHA:1067
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Inherited Creutzfeldt-Jakob Disease	Trigeminal neuralgia, Tremor, Abnormal autonomic nervous system physiology, Abnormal pupillary fu...	ORPHA:282166
Craniotubular Dysplasia, Ikegawa Type	Epicanthus, Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression, Mydriasis	OMIM:619727
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hypospadias, Large for gestational age, Intestinal polyp, Protuberant abdome...	ORPHA:457485
Gombo Syndrome	Microphthalmia	OMIM:233270
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Abdominal distention, Abnormal renal morphology, High palate, Protein-los...	ORPHA:1655
Pandas	Anorexia, Encopresis, Enuresis, Arthralgia, Recurrent streptococcus pneumoniae infections	ORPHA:66624
Immunodeficiency, Common Variable, 1	Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunc...	OMIM:607594
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Warburg Micro Syndrome 1	Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Failure to thrive, Ptosis	OMIM:600118
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria	OMIM:156400
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stress urinary incontinence, Dysphagia	ORPHA:136
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal...	OMIM:152950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Recurrent bacterial infect...	OMIM:615895
Pgm3-Cdg	Recurrent viral infections, Sepsis, Gastroesophageal reflux, High palate, Chronic otitis media, M...	ORPHA:443811
Alexander Disease	Nausea and vomiting, Facial palsy, Bowel incontinence, Sudden cardiac death, Tremor, Constipation...	ORPHA:58
Primary Progressive Freezing Gait	Postural tremor, Urinary incontinence, Dysphagia	ORPHA:75567
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Palpebral edema, Lacrimal duct steno...	ORPHA:221139
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Invasive fungal infection, Recurrent mycobacterial infec...	ORPHA:98813
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Abnormal autonomic nervous system physiology, Feeding difficulties	OMIM:614498
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, Microcorne...	OMIM:616449
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Feeding difficulties in infancy, Optic atrophy, Mi...	ORPHA:1466
Wolman Disease	Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,...	ORPHA:75233
Arnold-Chiari Malformation Type I	Urinary incontinence, Neck pain, Cranial nerve compression, Abnormality of the twelfth cranial ne...	ORPHA:268882
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology	ORPHA:281090
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Epicanthus, Torticollis, Optic nerve hypoplasia, Feeding difficulties in infancy, Bilateral ptosi...	ORPHA:300570
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Multisystemic Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis, Intestinal malrotation, Hypoperistalsis	OMIM:613834
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Epicanthus, Cataract, Small for gestational age, Renal insufficiency...	OMIM:251300
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Urinary incontinence	ORPHA:98784
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Renal dysplasia, Cataract, Cleft hard palate, Synophrys, Submucous cleft hard palate, Hypercalciu...	OMIM:300990
Donohue Syndrome	Abdominal distention, Long penis, Recurrent infections, Ovarian cyst, Severe failure to thrive	OMIM:246200
Spinocerebellar Ataxia Type 8	Dystonia, Urinary incontinence, Dysphagia	ORPHA:98760
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Hypospadias, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Lon...	OMIM:615877
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Chorioretinal coloboma, Long palpebral fissure, Microphthalmia...	OMIM:243310
Congenital Disorder Of Glycosylation, Type Ih	Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver function, N...	OMIM:608104
Cog5-Cdg	Neurogenic bladder, Urinary incontinence, High palate, Micropenis, Gastrostomy tube feeding in in...	ORPHA:263487
Zellweger Syndrome	Failure to thrive, Posterior embryotoxon, Abnormal chorioretinal morphology, Corneal opacity, Cat...	ORPHA:912
Pierson Syndrome	Diffuse mesangial sclerosis, Hypoplasia of the iris, Hypopigmentation of the fundus, Nephrotic sy...	OMIM:609049
Duane-Radial Ray Syndrome	Renal malrotation, Anal stenosis, Cataract, Aganglionic megacolon, Epicanthus, Renal agenesis, Fa...	OMIM:607323
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi...	OMIM:614868
Nephronophthisis 11	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Anisocoria, R...	OMIM:613550
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Micropenis, Hepatic ...	OMIM:235255
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Cataract, Cleft palate, Oligosacchariduria, High palate, Long pal...	ORPHA:163649
Distal Deletion 10Q	Epicanthus, Functional abnormality of the bladder, Cleft palate, Feeding difficulties, Upslanted ...	ORPHA:96148
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Abdominal distention, Recurrent respiratory infections, Protuberant abdomen	OMIM:277300
Marbach-Schaaf Neurodevelopmental Syndrome	Epicanthus, Torticollis, Hemidystonia, Tremor, Submucous cleft hard palate, Obesity, Enuresis noc...	OMIM:619680
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Obesity, Feeding difficulties, Anteriorly placed anus, Anisoco...	OMIM:618653
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Long eyelashes, Microphthalmia, Abnormality of peripheral nerve conduction...	ORPHA:48431
Renal Hypoplasia, Bilateral	Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo...	ORPHA:97362
Pierpont Syndrome	Telecanthus, Small for gestational age, Microcornea, Narrow palpebral fissure, Microphthalmia	ORPHA:487825
Developmental And Epileptic Encephalopathy 1	Dysphagia, Choreoathetosis, Dystonia, Microphthalmia, Micropenis	OMIM:308350
Fanconi Anemia, Complementation Group O	Neonatal death, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis	OMIM:613390
Stromme Syndrome	Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Optic nerve hypoplasia, Bilatera...	OMIM:243605
Infantile Neuroaxonal Dystrophy	Optic atrophy, Constipation, Abnormal autonomic nervous system physiology, Aspiration pneumonia, ...	ORPHA:35069
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Folinic Acid-Responsive Seizures	Abdominal distention, Optic atrophy, Dystonia	ORPHA:79097
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Feeding difficulties in infancy, Optic atrophy, Develo...	OMIM:615663
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Epicanthus, Downslanted palpebral fissures, Nephroblastoma	OMIM:602501
Joubert Syndrome 37	Obesity, High palate, Microphthalmia, Micropenis, Hydronephrosis, Ptosis	OMIM:619185
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Optic disc pallor, Retinal detachment, Cataract, Abnormality of retinal pigmentation, Chorioretin...	OMIM:251270
Hereditary Fructose Intolerance	Renal insufficiency, Cataract, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney dis...	ORPHA:469
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morpholo...	OMIM:147791
Sialuria	Epicanthus, Synophrys, Macroglossia, High palate, Protuberant abdomen, Increased level of N-acety...	OMIM:269921
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Feeding difficulties, Chronic constipation, A...	OMIM:619482
Tick-Borne Encephalitis	Back pain, Fatigue, Facial palsy, Anorexia, Tremor, Unusual CNS infection, Abnormal glossopharyng...	ORPHA:297
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Kapur-Toriello Syndrome	Hypoplasia of penis, Intestinal malrotation, Constipation, Retinal coloboma, Microphthalmia, Fail...	ORPHA:2328
Diaphanospondylodysostosis	Epicanthus, Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Protuberant ab...	OMIM:608022
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Bowel incontinence, Pseudobulbar paralysis, Constipation, Autonomic bladder dysfunction, Autonomi...	OMIM:169500
Congenital-Onset Steinert Myotonic Dystrophy	Cataract, Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Constipation, Gastroesophageal...	ORPHA:589821
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro...	ORPHA:2470
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Blepharophimosis, Ectopic kidney, Abnormal pupil mo...	ORPHA:233
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Protein-losing enteropathy, Recurrent otitis...	OMIM:613502
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Gastrostomy tube feeding in infancy, Hand tremor, Upslanted palpebral fissure,...	OMIM:618947
Autosomal Recessive Spastic Paraplegia Type 35	Generalized dystonia, Urinary incontinence, Bowel incontinence, Optic atrophy, Enuresis nocturna,...	ORPHA:171629
Small Cell Carcinoma Of The Bladder	Hematuria, Recurrent urinary tract infections, Dysuria, Abdominal pain	ORPHA:284400
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Gitelman Syndrome	Nausea and vomiting, Proteinuria, Urinary incontinence, Abdominal pain, Decreased urinary potassi...	ORPHA:358
Schimke Immunoosseous Dysplasia	Renal insufficiency, Small for gestational age, Proteinuria, Stage 5 chronic kidney disease, Recu...	OMIM:242900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Rod-cone dystrophy	OMIM:616084
Sarcoidosis	Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Fatigue, Maculopapular exanthema, Facial...	ORPHA:797
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Enuresis, Achalasia, Dysphagia	ORPHA:289483
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Astigmatis...	OMIM:609053
Gaisböck Syndrome	Fatigue, Peptic ulcer, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria, Cholecystitis...	ORPHA:90041
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis	OMIM:614473
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Immunodeficiency 58	Colitis, Chronic otitis media, Fatigue, Recurrent cutaneous abscess formation, Chronic diarrhea, ...	OMIM:618131
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M...	ORPHA:1791
Warburg Micro Syndrome 3	Cataract, Miosis, Optic atrophy, Narrow palate, Developmental cataract, Microcornea, Shallow ante...	OMIM:614222
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula...	ORPHA:1834
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Microphthalmia, Lenz Type	Cataract, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Ankyloblepharo...	ORPHA:568
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Cleft palate, Renal cyst...	OMIM:614424
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Miosis, Microphthalmia, Retin...	ORPHA:773
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Gastroesophageal reflux, Microgastria, Multicystic kidney dysplasia, Hiatus hernia,...	ORPHA:2538
Camptobrachydactyly	Urinary incontinence	OMIM:114150
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Cataract, Dystonia, Pyloric stenosis, Dermatochalasis, Recurr...	ORPHA:90349
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Cataract, Pyloric stenosis, Developmental cataract, Feeding difficulties, Re...	OMIM:616395
Cln3 Disease	Cataract, Acne, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Dysphagia, Urinary...	ORPHA:228346
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Pyloric stenosis, Nephrolithiasis, Feeding difficulties, Vesicoureteral reflux	OMIM:617219
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Renal hypoplasia	OMIM:615665
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Alagille Syndrome	Keratoconus, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil morphology, Abnormality ...	ORPHA:52
Marden-Walker Syndrome	Epicanthus, Hypospadias, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate, Z...	OMIM:248700
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Abdomi...	OMIM:235730
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Dystonia, Urinary incontinence, Feeding difficulties in infancy, Tremor, Optic at...	OMIM:234200
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Entropion, Renal insuffi...	ORPHA:537
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Vomiting, Micropenis, Bifid uv...	OMIM:270400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Xerostomia, Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebr...	OMIM:129900
Leprechaunism	Abdominal distention, Rectal prolapse, Long penis, Hypercalciuria, Megarectum, Nephrocalcinosis, ...	ORPHA:508
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose in urine	OMIM:215600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Fatigue, Tongue atrophy, Cataract, Dec...	ORPHA:466768
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Dysphagia, Urinary urgency, Arm dystonia, Dystonia	OMIM:601338
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Urinary incontinence, Optic atrophy, Head tremor	ORPHA:314404
Haddad Syndrome	Small for gestational age, Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic ner...	ORPHA:99803
Tremor-Ataxia-Central Hypomyelination Syndrome	Dystonia, Postural tremor, Optic atrophy, Autonomic bladder dysfunction, Dysphagia, Intention tremor	ORPHA:447896
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation	ORPHA:3032
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Rabson-Mendenhall Syndrome	Long penis, Furrowed tongue, Nephrocalcinosis, Macroglossia, Recurrent infections, High palate, R...	ORPHA:769
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Urinary incontinence	ORPHA:206448
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Recurrent respiratory infections, Urinary incontinence, Synophrys, Gastroesophageal reflux, Dysph...	ORPHA:447997
Vici Syndrome	Recurrent respiratory infections, Epicanthus, Cataract, Macular atrophy, Recurrent viral infectio...	OMIM:242840
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Optic nerve dysplasia, Cleft palate, Ups...	OMIM:214110
Primary Hepatic Neuroendocrine Carcinoma	Chronic fatigue, Anorexia, Abdominal distention, Diarrhea, Night sweats, Episodic abdominal pain,...	ORPHA:100085
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Severe recurrent var...	ORPHA:276
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Macroglossia, C...	ORPHA:226313
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Entropion, Renal insuffi...	ORPHA:36426
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars...	OMIM:619694
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, High pala...	ORPHA:141099
Moebius Syndrome	Epicanthus, Feeding difficulties in infancy, Congenital fibrosis of extraocular muscles, Facial d...	OMIM:157900
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Elevated urinary catecholamine level, Prominent corneal nerve fibers, Elev...	ORPHA:653
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Gout, Renal cyst, Recurrent infections, Focal segmental glomerulosclerosi...	OMIM:617056
Dubowitz Syndrome	Feeding difficulties in infancy, Hypoplasia of the iris, Gastroesophageal reflux, High palate, Ot...	OMIM:223370
Floating-Harbor Syndrome	Small for gestational age, Hypospadias, Renal agenesis, Celiac disease, Dilatation of the renal p...	ORPHA:2044
Hurler Syndrome	Recurrent respiratory infections, Corneal opacity, Heparan sulfate excretion in urine, Bilateral ...	OMIM:607014
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection...	ORPHA:486
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Macroglossia, Long eyelashes, Long palpebral fissure, Micropen...	OMIM:268310
Celiac Disease, Susceptibility To, 1	Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,...	OMIM:212750
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Recurrent respiratory infections, Renal insufficiency, Abdominal distention, Esophage...	OMIM:619534
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Keratoconus, Epicanthus, Retinal detachment, Recurrent pneumonia, Mi...	OMIM:225400
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ...	OMIM:617475
Systemic Sclerosis	Intestinal bleeding, Arthralgia, Gastroesophageal reflux, Abnormal small intestine morphology, Ba...	ORPHA:90291
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Developmental cataract, Microphthalmia, Micropenis	OMIM:610756
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate	OMIM:616570
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss	ORPHA:83469
Temtamy Syndrome	Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
8Q21.11 Microdeletion Syndrome	Ptosis, Epicanthus, Cataract, Corneal opacity, Hypoplasia of penis, Sclerocornea, Eczema, High pa...	ORPHA:284160
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Asthenia, Nausea	ORPHA:90003
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Constipation, Gastroesophageal reflux, Microphthalmia, Downsl...	OMIM:611961
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction, Abnormal auditory evoked potentials, Abnormality of somato...	ORPHA:320401
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Epicanthus, Telecanthus, Hypospadias, Urinary incontinence, Renal agenesis, E...	OMIM:619522
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency, Resting tremor	OMIM:617225
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Esophageal stricture, Chronic diarrhea, Sepsis, ...	OMIM:617053
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Poor appetite, Abnormal pupil morphology, We...	ORPHA:3163
Pelizaeus-Merzbacher Disease	Generalized dystonia, Dystonia, Writer's cramp, Tremor, Head titubation, Optic atrophy, Urinary u...	OMIM:312080
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, A...	OMIM:256800
Mucopolysaccharidosis Type 3	Synophrys, Otitis media, Aspiration pneumonia, Chronic otitis media, Retinal degeneration, Fatiga...	ORPHA:581
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, ...	ORPHA:73224
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Failure to thrive, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing en...	OMIM:602579
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Tremor, Rec...	OMIM:613179
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Feeding difficulties in infancy, Athetosis, Constipation, Vomit...	OMIM:257200
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Esophageal atresia, Tracheoesophage...	ORPHA:77298
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Abdominal pain, Micropenis, Developmental cataract, Opisthotonus, Micro...	ORPHA:335
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Anop...	ORPHA:899
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e...	OMIM:609136
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin...	OMIM:615816
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency	ORPHA:100984
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Aminoaciduria, Proteinuria	OMIM:603585
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy, Feeding difficulties in infancy, Spar...	OMIM:618829
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary incontinence, Ab...	ORPHA:2729
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Joubert Syndrome 7	Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Ptosis	OMIM:611560
Microphthalmia, Syndromic 8	Cleft palate, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure	OMIM:601349
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Familial Tumoral Calcinosis	Nephrocalcinosis, Bone pain, Skin rash	ORPHA:53715
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Chronic diarrhea, Bronchiectasis, Upslanted palpebral fissure, Gastroesopha...	OMIM:620233
Childhood Absence Epilepsy	Urinary incontinence	ORPHA:64280
Young-Onset Parkinson Disease	Gastroparesis, Tremor, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Dyst...	ORPHA:2828
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disea...	OMIM:617729
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Cleft palate, Neonatal death, Microphthalmia	OMIM:615524
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal pupillary light reflex, Celiac disease, Gastrointestinal dysmotility, Recurrent upper re...	ORPHA:293987
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Fatigue	ORPHA:171612
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Heparan sulfate excretion in urine, Recurrent upper respiratory trac...	OMIM:253220
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive, Reti...	ORPHA:71
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia	ORPHA:2111
Cerebrooculofacioskeletal Syndrome 1	Cataract, Miosis, Small for gestational age, Recurrent pneumonia, Blepharophimosis, Microphthalmi...	OMIM:214150
Fryns Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Corneal opacity, Hyp...	ORPHA:2059
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Cleft palate, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Hori...	OMIM:618571
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, High palate, Microphthalmia, Fa...	ORPHA:65286
Meckel Syndrome 14	Microphthalmia, Abdominal distention, Polycystic kidney dysplasia, Protuberant abdomen	OMIM:619879
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Optic atrophy, Microcornea, Microp...	ORPHA:3301
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Narrow palpebral fissure, Stillbirth, Neonatal d...	OMIM:236500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Otitis media, Rod-cone dystrophy, Chronic sinusitis,...	OMIM:300455
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Cutis Laxa, Autosomal Recessive, Type Iic	Entropion, Pyloric stenosis, Nephrocalcinosis, High palate, Decreased body weight, Blepharophimos...	OMIM:617402
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurren...	OMIM:601495
Meckel Syndrome, Type 10	Epicanthus, Hypospadias, Cleft palate, Renal cyst, Narrow palpebral fissure, Micropenis, Bifid uv...	OMIM:614175
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Epicanthus, Cataract, Bilateral ptosis, Optic ...	ORPHA:79500
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, Intractable diarrhea, A...	OMIM:226730
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency, Posterior capsular cataract, Dystonia	OMIM:609195
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow	ORPHA:170
Spinocerebellar Ataxia 25	Urinary urgency, Vomiting	OMIM:608703
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Cleft hard palate, Abnormal pupil morphology, Microcornea, Vesicoureteral r...	ORPHA:261552
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Hypospadias, Sparse eyebrow, Unilateral microphthalmos, Bilateral cleft lip and...	OMIM:618874
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Kufor-Rakeb Syndrome	Eyelid apraxia, Fatigue, Urinary incontinence, Bowel incontinence, Oculogyric crisis, Blepharospa...	ORPHA:306674
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Neurodegeneration With Brain Iron Accumulation 5	Tremor, Abnormal autonomic nervous system physiology, Dystonia	OMIM:300894
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Hypospadias, Cleft palate, Microcornea, Microphthalmia, Retinopathy	ORPHA:2505
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Torticollis, Recurrent ear infections,...	ORPHA:251061
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology	ORPHA:101082
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Recurrent skin infections, Malrotation of small bowel, Functional abnormality...	ORPHA:2953
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, High palate, Renal hypoplasia	OMIM:619053
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Verheij Syndrome	Small for gestational age, Renal agenesis, Optic nerve hypoplasia, Renal hypoplasia, Renal cyst, ...	OMIM:615583
Kapur-Toriello Syndrome	Cataract, Intestinal malrotation, Cleft palate, Abnormality of the urinary system, Constipation, ...	OMIM:244300
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatocellular carcinoma, Re...	OMIM:619902
Nephronophthisis 14	Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Sparse eyebrow, Microcornea, High palate, Erythroderma, Microphthalmi...	ORPHA:35173
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, Enuresis, Gastroesoph...	OMIM:616260
Necrotizing Enterocolitis	Neonatal sepsis, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody d...	ORPHA:391673
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,...	OMIM:606367
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Spinal Arteriovenous Metameric Syndrome	Fatigue, Abnormality of the kidney, Bone pain, Arthralgia, Gangrene, Urinary bladder sphincter dy...	ORPHA:53721
Joubert Syndrome 16	Retinal dystrophy, Renal cyst, Nephronophthisis	OMIM:614465
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Hydronephrosis, High palate, Vesicoureteral reflux, Microphthalmia, Failure...	ORPHA:250989
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel in...	ORPHA:261494
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Tremor, Optic atrophy, Spastic/hyperactive bladder, Ptosis	ORPHA:137898
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Intestinal malrotation, Highly arched eyebrow, Ectopia lentis, Feed...	ORPHA:2712
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ...	ORPHA:107
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Highly arched eyebrow, Peters anomaly, Trichiasis, Epiblepharon, Renal hypo...	OMIM:618460
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormality of the kidney, A...	ORPHA:2273
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Small for gestational age, Highly arched eyebrow, Develop...	OMIM:618804
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, Cleft palate, Microcornea, Mic...	OMIM:610125
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Back pain, Torticollis, Anorexia, Abdominal distention, Weight loss, Episodi...	ORPHA:370348
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis	OMIM:608106
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, Abnormal local...	ORPHA:2510
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a...	OMIM:612541
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital cyst, Cleft palate, Eyelid coloboma, Microphthalmia	OMIM:164180
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Gastrointestinal dysmotility, Abnormal autonomic nervous system physiology, Ret...	ORPHA:478029
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Abnormality of the kidney, Sparse eyebrow, Cleft palate, Tubulointerstitial nephritis...	ORPHA:459061
Mowat-Wilson Syndrome	Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Vesicoureteral r...	ORPHA:2152
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Glycogen Storage Disease Ii	Exercise intolerance, Macroglossia, Recurrent respiratory infections, Urinary incontinence	OMIM:232300
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia, Pelvic kid...	OMIM:613001
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Hypoplasia of ...	ORPHA:169090
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Highly arched eyebrow, Bilateral ptosis, Cleft palate, Feeding difficulti...	ORPHA:404440
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic ...	ORPHA:261537
Coach Syndrome 1	Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Esophageal va...	OMIM:216360
Floating-Harbor Syndrome	Hypospadias, Celiac disease, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Long eye...	OMIM:136140
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Cleft palate, Pigmentary retinopathy, High palate, Microphtha...	OMIM:614230
Immunodeficiency 12	Skin rash, Recurrent viral infections, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent...	OMIM:615468
Hartsfield Syndrome	Telecanthus, Cleft palate, Microphthalmia, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Cockayne Syndrome Type 3	Microcornea, Lentiglobus, Gastroesophageal reflux, Retinal degeneration, Intention tremor, Retina...	ORPHA:90324
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni...	OMIM:102700
Dopamine Beta-Hydroxylase Deficiency	Fatigue, Orthostatic hypotension, Bilateral ptosis, Diarrhea, Elevated urinary dopamine level, Rh...	ORPHA:230
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Sepsis, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the ...	ORPHA:79404
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Hypospadias, Sparse eyebrow, High, narrow palate, Recurrent pneumonia, Cleft palate, ...	ORPHA:464738
African Trypanosomiasis	Fatigue, Papilledema, Renal insufficiency, Pericarditis, Rigors, Urinary incontinence, Keratitis,...	ORPHA:3385
Ohdo Syndrome, X-Linked	Epicanthus, Hiatus hernia, Sparse eyebrow, Feeding difficulties, Constipation, High palate, Decre...	OMIM:300895
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Villous atrophy, Inflammatory abnormality of the skin, Recurren...	ORPHA:391487
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdomina...	ORPHA:436252
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp...	OMIM:615145
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Hematemesi...	OMIM:263200
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Flank pain, Hashimoto thyroiditis, Fatigue, Psoriasiform dermatitis, Abdominal pain, Un...	ORPHA:49041
Primary Biliary Cholangitis	Fatigue, Orthostatic hypotension, Celiac disease, Abdominal distention, Hepatitis, Gastrointestin...	ORPHA:186
Stuve-Wiedemann Syndrome 1	Feeding difficulties, Recurrent infections, Smooth tongue, Abnormal autonomic nervous system phys...	OMIM:601559
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias, Cleft palate	OMIM:231060
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea...	OMIM:619339
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Glossoptosis, Chorioretinal coloboma, Blepharophimosis,...	ORPHA:2031
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi...	OMIM:147060
Congenital Toxoplasmosis	Microphthalmia, Diarrhea, Failure to thrive in infancy, Abnormality of retinal pigmentation	ORPHA:858
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Abdominal distention, Arthritis, Septic arthritis, Failure to thrive	OMIM:619423
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Hypospadias, Optic atrophy, Vesicoureteral reflux, Renal cyst, Furrowed tongue, Feedi...	OMIM:616975
Arachnoiditis	Fatigue, Meningitis, Urinary bladder sphincter dysfunction, Arthralgia	ORPHA:137817
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma...	ORPHA:586
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dystonia, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy...	ORPHA:79233
Joubert Syndrome 20	Retinopathy, Renal cyst	OMIM:614970
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Nausea and vomiting, Abnormal autonomic nervous system physiology, Hashimoto thyroiditis	ORPHA:83601
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Myopathy, Tubular Aggregate, 1	Exercise-induced myalgia, Abnormal pupil morphology	OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Developmental cataract, Macroglossia, Microphthalmia	OMIM:613155
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, High palate, Chorioretin...	OMIM:608091
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Eczema, Optic atrophy, Dysphagia, Microphthalmia, Failure to thrive	OMIM:612379
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Lacrimal duct stenosis, Intestinal malrotation, Unilateral re...	OMIM:113650
Peroxisome Biogenesis Disorder 4A (Zellweger)	Feeding difficulties in infancy, Epicanthus inversus, Upslanted palpebral fissure, Renal cyst	OMIM:614862
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Intestinal malrotation, Cleft palate	OMIM:603194
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Dow...	OMIM:218340
Orthostatic Hypotension 1	Orthostatic hypotension, High palate, Nocturia, Ptosis	OMIM:223360
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Failure to thrive in infancy, Chronic diarrhea, Microphthalmia, Pancreatitis	OMIM:618805
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, Microcornea, High palate, Gastroesoph...	OMIM:122470
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Bronchiectasis, Developmental cataract, Feeding diffi...	ORPHA:90348
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infections, Recurrent bacterial...	OMIM:618048
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Homocystinuria, Ectopia lentis, Spherophakia, Anterior synechiae of the a...	OMIM:601552
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Vestibular areflexia, Decreased distal sensory nerve action potential, Abnormal autonomic nervous...	OMIM:614575
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Microcornea, Persistent pupillary membrane, ...	OMIM:257850
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Rett Syndrome	Failure to thrive, Abnormal autonomic nervous system physiology, Cholecystitis, Dystonia	ORPHA:778
Fanconi Anemia, Complementation Group S	Epicanthus, Narrow palate, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Microph...	OMIM:617883
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract	ORPHA:324416
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Lysinuric Protein Intolerance	Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Diarrhea, Argininuria, Oroticac...	ORPHA:470
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Feeding difficulties in infancy, Synophrys, Gastroesophageal r...	ORPHA:2162
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Multicystic kidney dysplasia, Facial p...	ORPHA:261349
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anis...	ORPHA:45358
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Arboleda-Tham Syndrome	Gastroesophageal reflux, Conjunctivitis, Chronic otitis media, Sparse medial eyebrow, Recurrent a...	OMIM:616268
Split Cord Malformation	Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Bowel incontinen...	ORPHA:573278
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct...	ORPHA:97355
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Multiple Acyl-Coa Dehydrogenase Deficiency	Exercise intolerance, Telecanthus, Acute pancreatitis, Reye syndrome-like episodes, Glutaric acid...	ORPHA:26791
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria	OMIM:611773
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag...	OMIM:615994
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Recurrent respiratory infections	OMIM:219100
Frontonasal Dysplasia 1	Epicanthus, Cataract, Microphthalmia, Median cleft palate, Ptosis	OMIM:136760
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubular acidosis, ...	OMIM:614922
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Familial Renal Glucosuria	Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy	ORPHA:69076
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Abnormality of the orbital region, Keratoconjunctivitis sicca, Constipation, Abnormal...	ORPHA:43393
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor, Highly arched eyebrow	OMIM:300887
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency, Postural tremor, Truncal titubation, Dysphagia	OMIM:609270
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Urethral atresia, Hydronephrosis, Anal atresia	OMIM:271520
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Pelvic kidney, Microphallus, Vesicoureteral reflux, Microphthalmia, ...	OMIM:603467
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Ovarian Fibroma	Abdominal distention, Peritonitis, Abdominal pain	ORPHA:314473
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys...	OMIM:209880
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Cleft soft palate, Feeding difficulties, Microcornea, Bladder diverticulum	OMIM:614557
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Aplas...	ORPHA:193
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Erythroderma, Microphthalmia, Failure to thrive, Down...	OMIM:302960
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Cleft palate	OMIM:611561
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Miosis, Retinal dystrophy, Macular atrophy, Corneal scarring, Bupht...	OMIM:212550
Classical Ehlers-Danlos Syndrome	Fatigue, Epicanthus, Orthostatic hypotension, Hiatus hernia, Dermatochalasis, Rectal prolapse, Os...	ORPHA:287
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Large for gesta...	OMIM:229850
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder, Dystonia	OMIM:611390
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Hardikar Syndrome	Cholangitis, Vomiting, Vesicoureteral reflux, Bladder exstrophy, Cleft soft palate, Abdominal pai...	OMIM:301068
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Bone pain, Generalized aminoaciduria, Protuberant abdomen	OMIM:264700
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Multicystic kidney dysplasia, Hypoplasia of penis, Obesity, Nephro...	ORPHA:110
Fanconi Anemia	Abnormal eyelid morphology, High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, Aplasia/Hy...	ORPHA:84
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Cataract, Cachexia, Abnormality of the upper uri...	ORPHA:3380
Mucolipidosis Ii Alpha/Beta	Epicanthus, Palpebral edema, Recurrent bronchitis, Sparse eyebrow, Recurrent pneumonia, Macroglos...	OMIM:252500
Opsismodysplasia	Recurrent respiratory infections, Renal phosphate wasting, Protuberant abdomen, Shallow orbits, L...	OMIM:258480
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Telecanthus, Protuberant abdomen	OMIM:617102
Martsolf Syndrome 1	Recurrent respiratory infections, Epicanthus, Cataract, Feeding difficulties in infancy, Developm...	OMIM:212720
Pancreatic Triacylglycerol Lipase Deficiency	Fatigue, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca,...	ORPHA:309031
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
Trichinellosis	Skin rash, Facial palsy, Ocular pain, Central retinal artery occlusion, Retinal hemorrhage, Aniso...	ORPHA:863
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Small for gestational age, Protuberant abdomen	OMIM:613330
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Choroidal neovascularization, Failure to thrive in infancy, Abnormal retinal a...	ORPHA:51608
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Postural tremor, Choreoathetosis, Head tremor, Dysphagia, Urinary bladder sphincter dys...	ORPHA:64753
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal ...	ORPHA:567
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis, Recurrent bacterial infections, Bifid uvula	OMIM:241410
Idiopathic Bronchiectasis	Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia...	ORPHA:60033
Gitelman Syndrome	Fatigue, Polyuria, Abdominal pain, Renal magnesium wasting, Enuresis, Arthralgia, Constipation, V...	OMIM:263800
Bronchogenic Cyst	Back pain, Pneumonia, Abdominal pain, Abnormal stomach morphology, Neck pain, Chronic infection, ...	ORPHA:2357
Short-Rib Thoracic Dysplasia 12	Epicanthus, Intestinal malrotation, Hamartoma of tongue, Renal hypoplasia, Lobulated tongue, Prot...	OMIM:269860
Occipital Horn Syndrome	Orthostatic hypotension, Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticu...	OMIM:304150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Failure to thrive, Dystonia, Reye syndrome-like episodes, Abdominal disten...	OMIM:256810
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu...	ORPHA:2688
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Spastic/hyperactive bladder, Weight loss, Chronic constipation, Dysphag...	ORPHA:411602
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Hepatitis, Sepsis, Chronic hepatitis, Sclerosing cholangitis, Enteroviral encephalitis,...	OMIM:308230
Scalp-Ear-Nipple Syndrome	Epicanthus, Cataract, Telecanthus, Palpebral edema, Renal insufficiency, Unilateral renal agenesi...	OMIM:181270
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration...	ORPHA:199343
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia, Ankyloblepharon, Sclerocornea	OMIM:611038
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Epicanthus, Telecanthus, Retinal dystrophy, Renal magnesium was...	OMIM:218330
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Liver Disease, Severe Congenital	Chronic gastritis, Sepsis, Aminoaciduria, Protein-losing enteropathy, Vomiting, Hypospadias, Recu...	OMIM:619991
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hip pain, Cranial nerve compression, Cataract, Urinary bladder sphincter dysfunction	ORPHA:52430
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency, Crohn's disease	OMIM:619621
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency, Chronic constipation, Dysphagia	OMIM:275900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Feeding difficulties, Microphthalmia	OMIM:613153
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Corneal opacity, Intestinal malrotation, Cleft palate, Hors...	ORPHA:99776
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Eczema, Seborrheic dermatitis, High, narrow palate, Obesity, Macroglossia, Enuresis, ...	ORPHA:369950
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Obesity, Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmi...	ORPHA:251038
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Tracheoesophageal fistula, Eyelid coloboma, Chorioretinal coloboma, Microphthalmi...	ORPHA:268249
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy	OMIM:617255
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Small for gestational age, Hypospadias, Pyloric stenosis, Penoscrotal transposition, ...	OMIM:619148
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Ketamine-Induced Biliary Dilatation	Dysuria, Abdominal pain	ORPHA:293807
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis, Failure to thrive, Ankyloglossia	OMIM:602361
Meningioma	Nausea and vomiting, Papilledema, Back pain, Urinary incontinence, Facial palsy, Trigeminal neura...	ORPHA:2495
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Abnormal pupil morphology, Cleft palate, Microcornea, Blepharophimos...	ORPHA:3374
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Aplasia/Hypoplasia of ...	ORPHA:290
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectop...	OMIM:180500
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Vesicoureter...	ORPHA:857
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Failure to thrive in infancy, Recurrent enteroviral infections,...	ORPHA:79124
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Cataract, Renal agenesis, Nasolacrimal duct obstruction, Microcorne...	ORPHA:1297
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Recurrent infections, Recurren...	OMIM:619774
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Absent eyelashes, Renal cyst, Feeding difficulties, Horseshoe kidney, Rod-cone dy...	ORPHA:166035
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, Microphthalmia	OMIM:613456
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Pericarditis, Proteinuria, Feeding difficulties in infancy, Almond-shaped palpeb...	OMIM:212065
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain,...	ORPHA:100086
Hermansky-Pudlak Syndrome 2	Epicanthus, Recurrent pneumonia, Ocular albinism, Upslanted palpebral fissure, Recurrent bacteria...	OMIM:608233
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Bowel incontinen...	ORPHA:93930
Occipital Horn Syndrome	Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis,...	ORPHA:198
Adams-Oliver Syndrome 2	Microphthalmia, Narrow palpebral fissure, Optic atrophy, Developmental cataract	OMIM:614219
Mmep Syndrome	Microphthalmia	ORPHA:3434
Sickle Cell Disease	Renal insufficiency, Abdominal pain, Hematuria, Recurrent bacterial infections, Retinopathy	OMIM:603903
Alexander Disease	Fatigue, Microcoria	OMIM:203450
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Decreased sensory nerve conduction ...	OMIM:164400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	4-hydroxyphenylacetic aciduria, Abdominal distention, 4-Hydroxyphenylpyruvic aciduria, Hepatic fa...	OMIM:617156
Joubert Syndrome 18	Lobulated tongue, Renal cyst, Cleft palate, Horseshoe kidney	OMIM:614815
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Renal cyst, Feeding difficulties, Horseshoe kidney, Hypoautoflu...	OMIM:250410
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	ORPHA:363741
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Small for gestational age, Malabsorption, Chronic diarrhea, Rec...	OMIM:601675
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Anal atresia	OMIM:617244
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in...	ORPHA:3260
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Corneal opacity, Abdominal pain, Ectopia len...	ORPHA:2092
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Cataract, Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Abdominal ...	ORPHA:93271
Bartsocas-Papas Syndrome 1	Absent eyebrow, Anal stenosis, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Ectopic k...	OMIM:263650
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Fatigue, Osteomyelitis, Malabsorption, Feeding ...	ORPHA:565
Ovarian Fibrothecoma	Abdominal distention, Peritonitis, Abdominal pain	ORPHA:314478
Urachal Cyst	Dysuria, Pyuria, Abdominal pain, Urachus fistula, Peritonitis, Severe infection, Hematuria, Chills	ORPHA:488
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding d...	OMIM:614083
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Polycystic ovaries, Downslanted palpebra...	ORPHA:2969
Recombinant Chromosome 8 Syndrome	Hydronephrosis	OMIM:179613
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Highly arched eyebrow, Feeding difficulties in...	ORPHA:1454
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, High palate, Chorioretinal ...	ORPHA:139471
Friedreich Ataxia	Decreased motor nerve conduction velocity, Dystonia, Optic atrophy, Dysphagia, Urinary bladder sp...	ORPHA:95
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Acne, Obesity	ORPHA:3191
Epilepsy, Progressive Myoclonic, 10	Urinary incontinence	OMIM:616640
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology, Sudden cardiac death	ORPHA:101016
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,...	ORPHA:2176
Immunodeficiency 10	Hypoplasia of the iris, Recurrent bacterial infections, Recurrent infections	OMIM:612783
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology, Dystonia	OMIM:617903
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:2461
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Recurrent viral infections, Lymphadenitis, Protracted diarrhea, Recurrent bacterial in...	ORPHA:331206
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Microphthalmia, Decreased b...	OMIM:617306
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Cleft palate, Microcornea, Hydronephrosis, Retinal coloboma, Microgloss...	ORPHA:2839
Teebi-Shaltout Syndrome	Telecanthus, Ureteral stenosis, Highly arched eyebrow, High, narrow palate, Cleft palate, Horsesh...	OMIM:272950
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Retinal detachment, Small for gestational age, Corneal opacity, Hypospadias, U...	ORPHA:464311
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Epicanthus, Multicystic kidney dysplasia, Recurrent urinary tract infe...	OMIM:614527
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Cataract, Small for gestational age, Multicystic kidney dysplasia, Hypospadias, Nephr...	OMIM:257300
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebr...	OMIM:618727
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Small for gestational age, Renal agenesis, Ectopic kidney, Esophage...	OMIM:227646
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, Gastroesophageal re...	OMIM:613177
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Small for gestational age, Corneal opacity, Hypospadias, Unilateral renal agen...	ORPHA:464306
Arima Syndrome	Ptosis, Proteinuria, Polyuria, Retinal dystrophy, Esophageal varix, Stage 5 chronic kidney diseas...	OMIM:243910
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis	OMIM:614225
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Renal hypoplasia	OMIM:618914
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos, Feeding difficulties, Failure to thrive	OMIM:615085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Synophrys, Feeding difficulties, Microcornea, Bladder diverticulum, High palate, Down...	ORPHA:536545
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Feeding d...	OMIM:236670
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Rod-cone dystrophy, Spastic/hyperactive bladder	ORPHA:100991
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Microphthalmia With Limb Anomalies	Anophthalmia, Abnormal eyelash morphology, Cleft palate, High palate, Blepharophimosis, Microphth...	OMIM:206920
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Abnormal autonomic nervous system physiology, Limb dystonia	OMIM:616840
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, ...	ORPHA:564
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia	ORPHA:3469
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Epispadias, Vitr...	ORPHA:2556
Cholesteryl Ester Storage Disease	Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom...	OMIM:278000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate, Po...	OMIM:614091
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Cleft palate	OMIM:611134
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Failure to thrive, Bone pain, Protuberant abdomen	OMIM:277440
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Peters anomaly, Cleft palate, Anteriorly placed anus, Pigmen...	OMIM:309801
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Clef...	OMIM:146510
Leprosy	Absent eyebrow, Loss of eyelashes, Abnormality of the seventh cranial nerve, Uveitis, Paralytic l...	ORPHA:548
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Epicanthus, Cataract, Corneal opacity, Multicystic kidney dysplasia, Cleft ...	ORPHA:1052
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycystic kidney dyspla...	OMIM:145001
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Protruding tongue, Optic...	OMIM:213300
Cystic Echinococcosis	Abdominal symptom, Fatigue, Invasive parasitic infection, Unusual infection, Renal cyst, Weight l...	ORPHA:400
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Peters anomaly, Microphthalmia, Downslanted palpebral fiss...	OMIM:614526
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
Superficial Siderosis	Back pain, Functional abnormality of the bladder, Abnormality of the vestibulocochlear nerve, Ani...	ORPHA:247245
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures, Cleft palate	OMIM:619981
Monosomy 18P	Epicanthus, Generalized dystonia, Cleft palate, Microphthalmia, Ptosis	ORPHA:1598
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Epicanthus, Hiatus hernia, Pancreatic cysts, Developmental glaucoma, Hepatitis, Renal cyst, Recur...	OMIM:610199
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Anisocoria, Dysphagia, Achala...	OMIM:615510
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Feeding difficulties	OMIM:620275
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Eyelid retraction, Ectropion	ORPHA:182
Citrullinemia Type Ii	Tremor, Pancreatitis, Diarrhea, Night sweats, Enuresis, Vomiting, Hepatocellular carcinoma, Decre...	ORPHA:247585
Histiocytoid Cardiomyopathy	Exercise intolerance, Corneal opacity, Optic atrophy, Cleft palate, Renal cyst, Polycystic ovarie...	ORPHA:137675
Hypocalcemic Vitamin D-Dependent Rickets	Failure to thrive, Bone pain, Generalized aminoaciduria, Protuberant abdomen	ORPHA:289157
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Hypospadias, Renal agenesis, Facial palsy, Optic nerve hypoplasia, Almond-shap...	ORPHA:508498
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Highly arched eyebrow, Optic disc coloboma, Renal hypoplasia, Cleft palate, Feeding d...	OMIM:618454
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Epicanthus, Optic atrophy, Renal cyst, Rod-cone dystrophy	OMIM:601539
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl...	OMIM:618061
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction ve...	OMIM:270550
Microcoria, Congenital	Microcoria, Miosis, Hypoplasia of the iris dilator muscle	OMIM:156600
Oculodentodigital Dysplasia	Epicanthus, Cataract, Neurogenic bladder, Uveitis, Cleft palate, Microcornea, High palate, Blepha...	OMIM:164200
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Epicanthus, Small for gestational age, Renal agenesis, Ectopic kidn...	OMIM:227645
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, High palate, Gastroesophageal r...	OMIM:619488
Pseudotrisomy 13 Syndrome	Renal agenesis, Renal hypoplasia, Upslanted palpebral fissure, Microphthalmia, Micropenis, Anal a...	OMIM:264480
Secondary Syringomyelia	Back pain, Dysuria, Fatigable weakness, Pseudobulbar paralysis, Facial paralysis	ORPHA:99857
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:234050
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum	ORPHA:2976
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Sparse eyebrow, Renal hypoplasia, Cleft palate, Renal cyst, Lobulated tongue...	OMIM:616300
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Micr...	OMIM:278730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Cleft palate, Upslanted palpebral fissure, Microphthalmia,...	OMIM:620098
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con...	ORPHA:220460
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Autosomal Dominant Progressive External Ophthalmoplegia	Fatigue, Exercise intolerance, Resting tremor, Cataract, Gastroparesis, Facial palsy, Tremor, Fac...	ORPHA:254892
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Anteriorly placed anus, Upslanted palpebral fissure, Blepharophimosis, Microphth...	ORPHA:1352
Erdheim-Chester Disease	Nausea and vomiting, Fatigue, Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Abdominal p...	ORPHA:35687
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunc...	ORPHA:488618
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoc...	ORPHA:1806
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Hypospadias, Synophrys, Cleft palate, Microcornea, Upslanted palpebral fissure, Urete...	OMIM:616734
Spinocerebellar Ataxia Type 10	Urinary urgency, Kinetic tremor, Intention tremor	ORPHA:98761
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Alveolar Echinococcosis	Fatigue, Low back pain, Cholangitis, Abdominal pain, Pancreatic cysts, Renal cyst, Weight loss, C...	ORPHA:284
Knobloch Syndrome	Retinal detachment, Epicanthus, Cataract, Ectopia lentis, Pyloric stenosis, Abnormal vitreous hum...	ORPHA:1571
Thyroid Hypoplasia	Fatigue, Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Chorioretinal ...	ORPHA:2526
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Epicanthus, Peters anomaly	OMIM:618652
Mody	Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Hepatocellular adenoma...	ORPHA:552
Charge Syndrome	Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Abnormal soft palate morphology, F...	ORPHA:138
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Esophageal atresia, Tracheoesophageal fis...	ORPHA:3412
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Telecanthus, Epicanthus, Renal cyst, Feeding difficulties, Upslanted palpebral fissure, Downslant...	OMIM:617260
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Retinal coloboma...	ORPHA:2791
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Cleft palate	ORPHA:85166
Solitary Fibrous Tumor	Fatigue, Low back pain, Night sweats, Weight loss, Neoplasm of the liver, Urinary retention, Cons...	ORPHA:2126
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Neuromuscular Oculoauditory Syndrome	Epicanthus, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelia...	OMIM:618733
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, High, narrow palate, Bilateral microphthalmos, Cleft palate,...	OMIM:607597
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Treacher-Collins Syndrome	Hypoplasia of penis, Cataract, Absent eyelashes, Tracheoesophageal fistula, Cleft palate, Blephar...	ORPHA:861
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Cataract, Small for gestational age, Sparse eyelashes, Sparse e...	OMIM:234100
Monosomy 9Q22.3	Epicanthus, Cataract, Large for gestational age, Feeding difficulties, Retinopathy, Microphthalmi...	ORPHA:77301
Achondrogenesis, Type Ii	Protuberant abdomen, Stillbirth, Cleft palate, Abnormally large globe	OMIM:200610
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Small for gestational age, Renal agenesis, Ectopic kidney, Abnormal...	OMIM:227650
Cousin Syndrome	Cleft palate, Microcornea, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Microgloss...	OMIM:260660
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Optic nerve hypoplasia, Sparse eyebrow, Synophry...	ORPHA:495875
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Complement Component 5 Deficiency	Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz...	OMIM:609536
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Diarrhea, Opisthotonus, Chor...	ORPHA:217253
3P25.3 Microdeletion Syndrome	Epicanthus, High, narrow palate, Pyloric stenosis, Cleft palate, Blepharophimosis, Microphthalmia...	ORPHA:435638
Omenn Syndrome	Pneumonia, Recurrent viral infections, Diarrhea, Recurrent bacterial infections, Recurrent fungal...	OMIM:603554
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy...	ORPHA:314588
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Gastroesophageal reflux, Otitis medi...	ORPHA:64
Caroli Disease	Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Conjunctival icterus, Esophageal varix...	ORPHA:53035
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Macroglossia, High palate, Hor...	ORPHA:369891
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiec...	OMIM:616005
Joubert Syndrome 21	Anophthalmia, Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Retinopathy, Hyperechogenic ki...	OMIM:615636
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney	OMIM:614846
Leukocyte Adhesion Deficiency, Type Iii	Pain, Recurrent skin infections, Sepsis, Recurrent bacterial infections	OMIM:612840
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholangiocarcinoma, Renal insufficiency, Fatigue, Recurrent systemic pyoge...	ORPHA:171
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Parkinson Disease 1, Autosomal Dominant	Urinary urgency, Resting tremor, Dystonia, Dysphagia	OMIM:168601
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis	OMIM:220210
Hereditary Spherocytosis	Maculopapular exanthema, Abdominal pain, Abdominal distention, Gout, Myalgia, Chills	ORPHA:822
Jacobsen Syndrome	Ptosis, Epicanthus, Cataract, Ectropion, Intestinal malrotation, Multicystic kidney dysplasia, Ec...	ORPHA:2308
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Small for gestational age, Ectopic kidney, Horsesho...	OMIM:600901
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Intention tremor, Hypocalciuria, Renal sodium wasting, Re...	OMIM:612780
Trisomy 9P	Abnormal pupil morphology, Downslanted palpebral fissures	ORPHA:236
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Tongue atrophy, Abnormal pupillary light reflex, Trige...	ORPHA:99949
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Hajdu-Cheney Syndrome	Epicanthus, Telecanthus, Hypospadias, Intestinal malrotation, Synophrys, Renal cyst, High palate,...	OMIM:102500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micropenis, Hypospadias, Hydronephrosis	OMIM:616897
Pelvis-Shoulder Dysplasia	Back pain, Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Iris coloboma	OMIM:169550
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Anteriorly pla...	ORPHA:2717
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Curry-Jones Syndrome	Microphthalmia, Iris coloboma, Optic disc coloboma, Intestinal malrotation	ORPHA:1553
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Attenuation of retinal blood vessels, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Uni...	ORPHA:468631
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Upper limb postural tremor, Tremor, Hand tremor, ...	OMIM:612953
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Abdominal pain, Recurrent viral infections, Diarrhea, Rec...	ORPHA:420741
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis	OMIM:301056
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Neu-Laxova Syndrome 2	Ablepharon, Cataract, Cleft palate, High palate, Protuberant abdomen	OMIM:616038
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Cleft palate, Microcornea, Upslanted palpebral fissure, High palate, Blepharophimosis...	OMIM:156610
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Gaucher Disease, Type Ii	Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia, Bronchiolitis, Fai...	OMIM:230900
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Ne...	OMIM:601186
Nephronophthisis-Like Nephropathy 1	Kinetic tremor, Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts,...	OMIM:613159
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypospadias, Optic nerve hypoplasia, Sclerocornea, Anophthalmia, E...	OMIM:206900
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Enuresis nocturna, Eyelid coloboma, Gastroesopha...	OMIM:615873
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Mal...	ORPHA:50
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Decreased nerve cond...	OMIM:214500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Cockayne Syndrome B	Renal insufficiency, Small for gestational age, Proteinuria, Abnormal auditory evoked potentials,...	OMIM:133540
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Eczematoid dermatitis, Failure to thrive, Seborrheic dermatitis	OMIM:619693
Monosomy 9P	Epicanthus, Hypospadias, Highly arched eyebrow, Synophrys, Cleft palate, Upslanted palpebral fiss...	ORPHA:261112
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Narrow palate, Shallow ...	OMIM:608328
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent respiratory infections, Abnormality of retinal pig...	ORPHA:167
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Chronic otitis media, Obesity, Chronic constipation, Narr...	ORPHA:96121
Choreoacanthocytosis	Limb dystonia, Resting tremor, Protruding tongue, Head titubation, Weight loss, Blepharospasm, Ar...	ORPHA:2388
Pudendal Neuralgia	Back pain, Abdominal colic, Anal canal adenocarcinoma, Dysuria, Vulvodynia, Episodic abdominal pa...	ORPHA:60039
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Optic atrophy, Cleft palate, Long eyelashes, S-shaped palpebral fiss...	OMIM:201180
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Recurr...	OMIM:619573
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Microcornea, High palate, Blepharophimosis, Microphthalmia, E...	OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Feeding difficulties, Microphthalmia, Retinal degeneration	OMIM:615249
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Bifid uvula, Eyelid coloboma, S-shaped palpe...	OMIM:229400
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Kury-Isidor Syndrome	Hydronephrosis	OMIM:619762
Nance-Horan Syndrome	Microcornea, Microphthalmia, Retinal detachment, Cataract	ORPHA:627
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel...	OMIM:265380
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen, Cleft palate	OMIM:184250
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Fetal Alcohol Syndrome	Telecanthus, Epicanthus, Cleft palate, Microphthalmia, Ptosis	ORPHA:1915
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Intestinal malrotation, Recurrent mycobacterial infections, B...	ORPHA:244
Renpenning Syndrome 1	Epicanthus, Cataract, Telecanthus, Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, Upslant...	OMIM:309500
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Epicanthus, Large for gestational age, Renal cyst, Macroglossia, Retinal colob...	OMIM:617107
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly...	OMIM:608836
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Premature osteoarthritis, Arthralgia	ORPHA:93352
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Abnormal retinal morphology, Bilateral microphthalmos, Decreased bo...	OMIM:610758
Mannosidosis, Alpha B, Lysosomal	Epicanthus, Thick eyebrow, Macroglossia, Recurrent bacterial infections, Retinal degeneration	OMIM:248500
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Chronic constipation, Bleph...	OMIM:601707
Letterer-Siwe Disease	Stomatitis, Abdominal distention, Seborrheic dermatitis	OMIM:246400
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Abnormality of the ureter, Cle...	OMIM:249000
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Reynolds Syndrome	Fatigue, Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivit...	ORPHA:779
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Renal cyst, Macular degeneration, High palate, Nephronophthisi...	OMIM:266920
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Renal cyst, Lacrimal duct stenosis	OMIM:615560
Frontorhiny	Epicanthus, Cataract, Cleft palate, Microphthalmia, Bifid tongue, Iris coloboma, Ptosis	ORPHA:391474
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia	OMIM:600666
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Witteveen-Kolk Syndrome	Feeding difficulties in infancy, High, narrow palate, Anisocoria, High palate, Gastroesophageal r...	OMIM:613406
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Optic atrophy, Cleft palate, Horseshoe kidney, High palate, Blepharo...	ORPHA:1106
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis	OMIM:619479
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting	ORPHA:677
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:1135
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo...	OMIM:248450
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove...	OMIM:619539
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Urinary bladder sphincter dysfunction	ORPHA:43
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Displacement of the urethral meatus, Multicystic kidney dysplasia, Leukocoria	ORPHA:1556
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Cleft palate, Thin eyebrow, Microphthalmia, Microglossia...	ORPHA:364577
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Cholangitis, Abdominal pain, Hematemesis, Conjunct...	ORPHA:480520
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication	ORPHA:96169
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Synophrys, Lacrimal duct atresia, Cleft palate, High palate, Microphthalmi...	OMIM:603457
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Pearson Syndrome	Ptosis, Renal insufficiency, Cataract, Small for gestational age, Proteinuria, Severe infection, ...	ORPHA:699
Autosomal Recessive Spastic Paraplegia Type 9B	Postural tremor, Pollakisuria, Impaired continence, Urinary retention	ORPHA:447760
Schneckenbecken Dysplasia	Protuberant abdomen, Stillbirth, Cleft palate	OMIM:269250
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis	OMIM:611209
Momo Syndrome	Epicanthus, Large for gestational age, Bilateral microphthalmos, Obesity, Eyelid coloboma, High p...	ORPHA:2563
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cataract, Anophthalmia, Submucous cleft hard palate, Cleft palate, Bifid uvu...	ORPHA:2250
Thanatophoric Dysplasia, Type I	Neonatal death, Protuberant abdomen	OMIM:187600
Microphthalmia, Syndromic 1	Hydroureter, Aganglionic megacolon, Hypospadias, Anophthalmia, Renal hypoplasia/aplasia, High, na...	OMIM:309800
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Cataract, Small for gestational age, Sparse eyelashes, Absent eyelash...	OMIM:268400
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Anal fissure, Glomerulonephri...	ORPHA:79408
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:7
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Upslanted palpebral fissure, Microphthalmia, Telecanthus	ORPHA:228390
Fibrochondrogenesis 1	Protuberant abdomen, Stillbirth, Cleft palate, Megalocornea	OMIM:228520
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Corneal ...	OMIM:309000
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Vitreous hemorrhage,...	OMIM:620185
Bohring-Opitz Syndrome	Recurrent respiratory infections, Retinal atrophy, Feeding difficulties in infancy, Synophrys, Op...	ORPHA:97297
2Q31.1 Microdeletion Syndrome	Epicanthus, Synophrys, Optic disc coloboma, Cleft palate, Microphthalmia, Downslanted palpebral f...	ORPHA:251014
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia, Cleft palate,...	ORPHA:2166
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Vomiting	ORPHA:77299
Tarp Syndrome	Neonatal death, Hydronephrosis, Horseshoe kidney	OMIM:311900
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Microphthalmia, Downslanted palpebral fissures, Chorioretinal coloboma	OMIM:619135
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Submucous...	OMIM:300166
Axial Osteomalacia	Renal cyst	OMIM:109130
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Cleft palate, Upslanted palpebral fissure, High palate, Microphthalmia, Downslant...	OMIM:612530
Branchiooculofacial Syndrome	Telecanthus, Cataract, Hypospadias, Renal agenesis, Facial palsy, Anophthalmia, Malrotation of co...	OMIM:113620
Mucolipidosis Type Ii	Recurrent respiratory infections, Epicanthus, Weight loss, Protuberant abdomen, Shallow orbits, O...	ORPHA:576
Fraser Syndrome	Anal stenosis, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anophthalmia, Rena...	ORPHA:2052
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Renal hypoplasia, Feeding difficulties, Recurrent infections, Blepharophimosis, Microph...	OMIM:620005
D-Bifunctional Protein Deficiency	Epicanthus, Feeding difficulties in infancy, Decreased nerve conduction velocity, Renal cyst, Ups...	OMIM:261515
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis...	ORPHA:811
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Erythema nodosum, Epididymitis, Bone pain, Recurrent upper respiratory tract infect...	OMIM:256040
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis	OMIM:610733
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Meckel Syndrome, Type 6	Renal cyst, Cleft palate, Horseshoe kidney, Aplasia of the bladder, Hepatic cysts	OMIM:612284
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
X-Linked Acrogigantism	Abdominal distention, Increased body mass index, Abnormal optic chiasm morphology	ORPHA:300373
Steinfeld Syndrome	Bifid uvula, Retinal coloboma, Microphthalmia, Unilateral renal dysplasia, Iris coloboma, Median ...	OMIM:184705
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Torticollis, Hypospadias, Antecubital pterygium, Horseshoe kidney, Popliteal pterygiu...	OMIM:609945
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Retinoblastoma, High palate, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris...	OMIM:613884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Cleft palate, Buphthalmos, Macroglossia, Persistent pupillary membrane,...	OMIM:613150
Dyggve-Melchior-Clausen Disease	Recurrent upper respiratory tract infections, Failure to thrive, Corneal opacity, Protuberant abd...	ORPHA:239
Wolf-Hirschhorn Syndrome	Rieger anomaly, Epicanthus, Small for gestational age, Hypospadias, Highly arched eyebrow, Malrot...	OMIM:194190
Lymphedema-Distichiasis Syndrome	Ectropion, Cleft palate, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia...	OMIM:153400
Von Hippel-Lindau Disease	Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholam...	ORPHA:892
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Epicanthus, Upslanted palpebral fissure, Hypoplasia of the small intestine, Cy...	OMIM:200995
Igg4-Related Aortitis	Hydronephrosis	ORPHA:449400
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Bilate...	ORPHA:49
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria, Tonic pupil, Slow pup...	ORPHA:90658
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Cataract, Hypoplasia of penis, Hypospadias, Abnormality ...	ORPHA:1606
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:154230
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Blepharophimosis, Mic...	OMIM:613451
Mitochondrial Complex I Deficiency, Nuclear Type 32	Small for gestational age, Failure to thrive, Vomiting, Patent urachus	OMIM:618252
Atelosteogenesis Type Ii	Bilateral cleft palate, Epicanthus, Telecanthus, Cleft palate, Protuberant abdomen	ORPHA:56304
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Protuberant abdomen	OMIM:151210
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ...	OMIM:614080
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cataract, Esophageal varix, Microphthalmia, Failure to thrive	ORPHA:974
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Carpenter Syndrome 1	Hydroureter, Hydronephrosis	OMIM:201000
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag...	ORPHA:141127
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Epicanthus, Cataract, Multicystic kidney dysplasia, Large for gestational age,...	ORPHA:500095
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:2315
Vascular Ehlers-Danlos Syndrome	Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypospadias, Abnormal eyelash mo...	ORPHA:286
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kid...	OMIM:208500
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Cornelia De Lange Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Synophrys, Microcornea, High palate, Gastro...	ORPHA:199
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis	OMIM:619179
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Cleft palate, Urethral atresia, Microphthalmia, Anal atresia	OMIM:273395
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Charge Syndrome	Anophthalmia, Micropenis, Iris coloboma, Facial palsy, Esophageal atresia, Renal hypoplasia, Reti...	OMIM:214800
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Myoclonic-Astatic Epilepsy	Tremor, Microphthalmia	ORPHA:1942
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Epicanthus, Small for gestational age, Abnormality of the kidney, Hi...	ORPHA:508488
Aicardi Syndrome	Retinal detachment, Cataract, Hiatus hernia, Chorioretinal lacunae, Optic disc coloboma, Optic at...	OMIM:304050
Fraser Syndrome 1	Abnormal small intestine morphology, Absent eyebrow, Anophthalmia, Corneal opacity, Hypospadias, ...	OMIM:219000
Trichothiodystrophy	Congenital exfoliative erythroderma, Epicanthus, Eczema, High, narrow palate, Recurrent bronchopu...	ORPHA:33364
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Feeding difficulties...	ORPHA:261265
Takenouchi-Kosaki Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis	ORPHA:314585
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Hepatic cysts, Pancreatic cysts, Ureteral atresia, S...	OMIM:208540
Yunis-Varon Syndrome	Cataract, Sparse eyelashes, Hypospadias, Sclerocornea, Sparse eyebrow, High, narrow palate, Pylor...	ORPHA:3472
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Ectopic kidney	OMIM:235510
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Cerebrocostomandibular Syndrome	Anal stenosis, Epicanthus, Cleft soft palate, Ectopic kidney, Cleft palate, Renal cyst, Anteriorl...	OMIM:117650
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Chronic kidney disease, Tongue pain, Corneal scarring, Feeding difficul...	ORPHA:642
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ...	ORPHA:731
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney	ORPHA:1225
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi...	OMIM:300707
Fontaine Progeroid Syndrome	Small for gestational age, Protruding tongue, High, narrow palate, Synophrys, Feeding difficultie...	OMIM:612289
Hydrolethalus	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:2189
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi...	OMIM:236700
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive, Lacrimal duct atresia, Sclerocornea	OMIM:300952
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Microcephaly-Micromelia Syndrome	Neonatal death, Microphthalmia, Short palpebral fissure, Cleft palate	OMIM:251230
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Mend Syndrome	Telecanthus, Cataract, Abnormal auditory evoked potentials, Cleft palate, Upslanted palpebral fis...	ORPHA:401973
Eisenmenger Syndrome	Fatigue, Exercise intolerance, Renal insufficiency, Brain abscess, Abdominal distention, Chest pa...	ORPHA:97214
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Telecanthus, Corneal opacity, Synophrys, Cleft palate, High pal...	OMIM:608670
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Recurrent infections, Gastric varix, Hepatocellula...	ORPHA:64743
Blomstrand Lethal Chondrodysplasia	Telecanthus, Cataract, Protuberant abdomen, Protruding tongue	ORPHA:50945
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Shallow orbits, Mic...	OMIM:601812
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm...	OMIM:175780
Lethal Kniest-Like Dysplasia	Protuberant abdomen, Cleft palate	ORPHA:2347
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia, Mic...	OMIM:253800
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Achondrogenesis, Type Ia	Stillbirth, Protuberant abdomen, Protruding tongue	OMIM:200600
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage...	OMIM:192350
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Cranioectodermal Dysplasia 2	Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Renal insufficiency, Cholangitis, S...	OMIM:613610
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis	OMIM:617798
Heart And Brain Malformation Syndrome	Microphthalmia, High, narrow palate, Gastroesophageal reflux	OMIM:616920
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Tremor, Obesity, Weight loss, Urinary retention, Constipation, Abnor...	ORPHA:79102
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Micropenis, Renal agenesis, Hypospadias, Hydronephrosis	OMIM:301040
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Skin rash, Kera...	ORPHA:464
Koolen-De Vries Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis	OMIM:610443
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, Microphthalmia, Micro...	OMIM:617925
Sacral Defect With Anterior Meningocele	Back pain, Neurogenic bladder, Constipation, Rectal abscess, Urinary retention, Meningitis	OMIM:600145
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Intestinal malrotation, Hiatus hernia, Ectopia lentis, Optic ...	OMIM:305600
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia	OMIM:610651
Schinzel-Giedion Syndrome	Aganglionic megacolon, Failure to thrive in infancy, Hypospadias, Nephroblastoma, Recurrent pneum...	ORPHA:798
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Synophrys, Arthralgia, High palate, Chronic otitis media, Micropenis, Pelvic kidney, Medial flari...	OMIM:619503
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Epicanthus, Facial palsy, Sparse eyebrow, Optic disc coloboma, ...	OMIM:620186
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Orbital cyst, Renal hypoplasia, Cleft palate, Micr...	OMIM:607932
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Achalasia, Dysphagia	OMIM:300858
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Epicanthus, Cataract, Retinoblastoma, Microphthalmia, ...	ORPHA:1587
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Hydronephrosis	OMIM:608779
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Maculopapular exanthema, Keratitis, Retina...	OMIM:308300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Atelosteogenesis, Type I	Neonatal death, Protuberant abdomen, Stillbirth, Cleft palate	OMIM:108720
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Renal dysplasia	OMIM:300968
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Cleft palate, Narrow palate, Ectopia pupillae, Hashimoto thyroiditis	OMIM:618223
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis	ORPHA:847
Tuberous Sclerosis Complex	Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ...	ORPHA:805
Raine Syndrome	Neonatal death, Hydroureter, Hydronephrosis	OMIM:259775
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Stüve-Wiedemann Syndrome	Feeding difficulties in infancy, Smooth tongue, Abnormal autonomic nervous system physiology	ORPHA:3206
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Absent eyebrow, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias...	OMIM:308205
Roberts Syndrome	Cataract, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Microphthalmia	ORPHA:3103
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Hallermann-Streiff Syndrome	Telecanthus, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Uveitis, Developmental catara...	ORPHA:2108
Basal Cell Nevus Syndrome 1	Cataract, Hamartomatous stomach polyps, Orbital cyst, Cleft palate, Microphthalmia, Iris coloboma	OMIM:109400
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy	OMIM:616538
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti...	OMIM:613254
Cardiofaciocutaneous Syndrome 1	Hydronephrosis	OMIM:115150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete...	ORPHA:280633
Sponastrime Dysplasia	Shoulder pain, Epicanthus, Cataract, Small for gestational age, Hypospadias, Recurrent pneumonia,...	ORPHA:93357
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Immunodeficiency 47	Recurrent bacterial infections, Failure to thrive, Chronic diarrhea, Recurrent infections	OMIM:300972
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic hemangioma, Epididymal cyst...	OMIM:193300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Cleft palate, Eyelid coloboma, Microphtha...	ORPHA:306542
Thyroid Ectopia	Macroglossia, Constipation, Abdominal distention	ORPHA:95712
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus, Iris coloboma	ORPHA:1236
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis	OMIM:614921
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Kasabach-Merritt Syndrome	Abdominal distention, Hepatic hemangioma, Abdominal pain	ORPHA:2330
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Ureteral obstruction	ORPHA:90652
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Renal agenesis, Absent eyelashes, Cleft palate, Stillbirth, Neonatal death,...	OMIM:256520
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Alg9-Cdg	Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,...	ORPHA:79328
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Cardiofaciocutaneous Syndrome	Hydronephrosis	ORPHA:1340
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Epicanthus, Peripheral retinal avascularization, Large for gestational age, Blepharophimosis, Fee...	ORPHA:96334
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Small for gestational age, Multicystic kidney dysplasia, Hy...	OMIM:107480
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Microphthalmi...	OMIM:610829
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Hypospadias, Long penis, Cleft palate, Horseshoe kidney, Eyelid colobo...	OMIM:268300
Holoprosencephaly 7	Bilateral cleft palate, Synophrys, Bilateral microphthalmos, Cleft palate, Upslanted palpebral fi...	OMIM:610828
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, Iris coloboma	ORPHA:2612
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Blepharophimosis, Ectopic kidney, Upp...	OMIM:164210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Tremor, Synophrys, Nuclear pulveru...	OMIM:612474
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention	OMIM:218700
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Greenberg Dysplasia	Neonatal death, Stillbirth, Protuberant abdomen	OMIM:215140
Pallister-Hall Syndrome	Renal dysplasia, Hypospadias, Unilateral renal agenesis, Large for gestational age, Ectopic kidne...	ORPHA:672
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:444072
Kenny-Caffey Syndrome, Type 2	Papilledema, Small for gestational age, Developmental cataract, Retinal calcification, Microphtha...	OMIM:127000
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Opitz Gbbb Syndrome	Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis	ORPHA:2745
Distal Deletion 12Q	Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:96149
Pyknoachondrogenesis	Abdominal distention, Palpebral edema	ORPHA:3003
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Dubowitz Syndrome	Hypospadias, Hydronephrosis	ORPHA:235
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma...	ORPHA:818
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Myhre Syndrome	Cataract, Small for gestational age, Obesity, Cleft palate, Narrow palpebral fissure, Blepharophi...	OMIM:139210
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	ORPHA:2886
Apert Syndrome	Hydronephrosis	OMIM:101200
Isolated Posterior Meningocele	Enuresis, Bowel incontinence	ORPHA:268810
Melnick-Needles Syndrome	Ureteral stenosis, Stillbirth, Hydronephrosis	OMIM:309350
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis	ORPHA:900
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Tuberous Sclerosis 1	Achromatic retinal patches, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Cachexia, Sudden cardiac de...	ORPHA:744
Revesz Syndrome	Leukocoria, Megalocornea, Exudative retinopathy, Oral leukoplakia	OMIM:268130
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron...	ORPHA:363958
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis	OMIM:269150
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Craniofacioskeletal Syndrome	Hypospadias, Hydronephrosis	OMIM:300712
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:280000
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac...	ORPHA:2785
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Micropenis, Hypospadias, Hydronephrosis	ORPHA:163979
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Facial Spasm	Anisocoria	OMIM:134300
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Bilateral microphthalmos, Uppe...	OMIM:154500
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction	ORPHA:1826
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Hydronephrosis	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Hydronephrosis	ORPHA:352665
Atrial Septal Defect, Coronary Sinus Type	Fatigue, Recurrent bacterial infections, Exercise intolerance, Pneumonia	ORPHA:99104
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:251260
Hydrolethalus Syndrome 1	Hypospadias, Cleft palate, Stillbirth, Microphthalmia, Hydronephrosis	OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyelashes, Sparse eyebrow, Renal hypoplasia, Renal cyst, Feeding difficulties, Stillbirth,...	OMIM:210710
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst, Cataract, Cleft palate	OMIM:272460
3Mc Syndrome 1	Hydronephrosis	OMIM:257920
Atrial Septal Defect, Ostium Secundum Type	Fatigue, Recurrent bacterial infections, Exercise intolerance, Pneumonia	ORPHA:99103
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Bone pain, Arthritis, Gastric ulcer, Arthralgia, Ptosis	OMIM:161700
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr...	ORPHA:3310
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2636
Campomelic Dysplasia	Hypospadias, Hydronephrosis	OMIM:114290
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst...	ORPHA:353281
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Rubinstein-Taybi Syndrome 1	Hypospadias, Hydronephrosis	OMIM:180849
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Epicanthus, Hypospadias, Intestinal malrotation, Nephroblastoma...	OMIM:312870
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Retinoblastoma	Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis	OMIM:135900
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron...	ORPHA:709
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno...	ORPHA:353277
Pallister-Killian Syndrome	Renal cyst, Anteriorly placed anus, Bifid uvula, Hypospadias, Sparse eyebrow, Obesity, Poor suck,...	OMIM:601803
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micropenis, Hydronephrosis	ORPHA:83617
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal...	OMIM:157170
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of...	ORPHA:3455
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis	OMIM:147920
Holoprosencephaly 1	Microphthalmia, Micropenis, Median cleft lip and palate	OMIM:236100
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis	ORPHA:438213
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Hydronephrosis, Unilateral renal agenesis	OMIM:188400
Otopalatodigital Syndrome, Type Ii	Stillbirth, Hypospadias, Hydronephrosis	OMIM:304120
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Peters-Plus Syndrome	Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia	OMIM:261540
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis	OMIM:620330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Renal dysplasia	ORPHA:480880
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Adams-Oliver Syndrome 1	Microphthalmia, Cleft palate	OMIM:100300
Johanson-Blizzard Syndrome	Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula	OMIM:243800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chrna3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chrna3.

No publications found that use IMPC mice or data for Chrna3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Chrna3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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