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Gene: Dzip1l MGI:1919757

Gene Summary

Name:

DAZ interacting protein 1-like

Synonyms:

2610524A10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal auditory brainstem response	Dzip1l^em1(IMPC)J	HET	Early adult	6.27×10^-07
preweaning lethality, complete penetrance	Dzip1l^em1(IMPC)J	HOM	Early adult	0.00
hemorrhage	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
abnormal craniofacial morphology	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
abnormal embryo size	Dzip1l^em1(IMPC)J	HOM	E18.5	0.00
hyperactivity	Dzip1l^em1(IMPC)J	HET	Early adult	8.99×10^-05
anophthalmia	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
polydactyly	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
microphthalmia	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
abnormal head shape	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
polydactyly	Dzip1l^em1(IMPC)J	HOM	E18.5	0.00
decreased heart rate	Dzip1l^em1(IMPC)J	HET	Early adult	8.88×10^-05
edema	Dzip1l^em1(IMPC)J	HOM	E15.5	0.00
anophthalmia	Dzip1l^em1(IMPC)J	HOM	E18.5	0.00
increased vertical activity	Dzip1l^em1(IMPC)J	HET	Early adult	1.98×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electroretinography 3

Fundus file

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

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

6 Images

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Human diseases caused by Dzip1l 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 Dzip1l (2 diseases)
Human diseases predicted to be associated with Dzip1l (1483 diseases)

The table below shows human diseases associated to Dzip1l by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Polycystic Kidney Disease 5		Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Autosomal Recessive Polycystic Kidney Disease		Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731

The table below shows human diseases predicted to be associated to Dzip1l by phenotypic similarity.

Disease	Matching phenotypes	Source
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment	OMIM:614896
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Schizophrenia 15	Hyperactivity	OMIM:613950
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly	OMIM:236110
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypertelorism, Cleft upper lip, Cleft palate	ORPHA:3316
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnorma...	ORPHA:294975
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B...	OMIM:267010
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Meckel Syndrome, Type 6	Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B...	OMIM:612284
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Low-set ears	ORPHA:436151
Charlie M Syndrome	Finger syndactyly, Hypertelorism, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis...	ORPHA:1406
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper...	OMIM:301008
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Nephronophthisis 18	Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers...	OMIM:615862
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip	ORPHA:85287
Meckel Syndrome, Type 4	Bile duct proliferation, Renal cyst	OMIM:611134
Bardet-Biedl Syndrome 7	Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Polydactyly, Narrow mou...	OMIM:615984
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Hypertelorism, Abnorma...	OMIM:216100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Hype...	OMIM:244600
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia, Sensorineural hearing impairment	OMIM:609924
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra...	OMIM:615982
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Hypertelorism, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Talipes equinovarus, Microphthalmia, Intrauterine growth retardation	OMIM:616570
Intellectual Disability, Wolff Type	Hypospadias, Camptodactyly of finger, Hypertelorism, Non-midline cleft lip, Thick lower lip vermi...	ORPHA:3080
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Syngnathia	Cleft palate	OMIM:119550
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Hypertelorism, Supe...	ORPHA:2919
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia	OMIM:619970
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ...	OMIM:613885
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip, Hypertelorism	ORPHA:2007
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Microphthalmia With Limb Anomalies	Frontal bossing, Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capit...	OMIM:206920
Phenobarbital Embryopathy	Hypospadias, Hypertelorism, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Brachydactyly	ORPHA:1919
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti...	OMIM:601419
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts	OMIM:600666
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Nephronophthisis 15	Elevated hepatic transaminase, Nephronophthisis	OMIM:614845
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms	OMIM:239500
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Mmep Syndrome	Split foot, Orofacial cleft, Median cleft lip, Triphalangeal thumb	ORPHA:3434
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts...	OMIM:208500
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
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
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,...	OMIM:181180
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Sprengel Deformity	Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should...	ORPHA:3181
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Ravine Syndrome	Abnormal auditory evoked potentials, Ataxia, Anorexia	ORPHA:99852
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Hypertelorism, Radial c...	ORPHA:2165
Facial Clefting, Oblique, 1	Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Hypertrophic cardiomyopathy, Hearing impairment	OMIM:620270
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Renal cortical cysts	ORPHA:79323
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Hypertelorism, Hypotelorism, Downturned corners of mouth, Short philtrum, Slende...	OMIM:613192
Carpenter Syndrome	Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ...	ORPHA:65759
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Hyperteloris...	OMIM:258860
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Abnormal calvaria morphology	ORPHA:2432
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Renal cyst, Horses...	OMIM:614815
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cleft palate, Cleft upper lip	OMIM:120433
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Nephronophthisis 11	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ...	OMIM:252100
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h...	ORPHA:84081
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Hypotelorism, Finger joint hypermobilit...	OMIM:244200
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Hypertelorism, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Small thenar em...	OMIM:239800
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Dysphagia	OMIM:620265
Joubert Syndrome 20	Renal cyst	OMIM:614970
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epilep...	ORPHA:599373
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias, Cleft palate, Cleft upper lip	OMIM:231060
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation	OMIM:164180
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Polysyndactyly With Cardiac Malformation	Syndactyly, Hypertelorism, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cys...	OMIM:263630
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot	OMIM:601349
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Hypertel...	OMIM:258865
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro...	OMIM:261515
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism	OMIM:613730
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Clef...	OMIM:614175
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Hearing impairment, Aggressive behavior	OMIM:248510
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Burn-Mckeown Syndrome	Unilateral renal agenesis, Cleft upper lip, Hypertelorism, 2-3 toe syndactyly, Cleft palate, Rena...	OMIM:608572
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva...	ORPHA:542306
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,...	OMIM:613390
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal fibula morp...	ORPHA:1988
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves	ORPHA:2382
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Cln3 Disease	Ataxia, Aggressive behavior, Optic atrophy, T-wave inversion, Bradycardia, Shuffling gait, Dyspha...	ORPHA:228346
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Abnorm...	ORPHA:3378
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma...	OMIM:277170
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f...	ORPHA:915
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Frontonasal Dysplasia 1	Median cleft lip, Hypertelorism, Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, ...	OMIM:136760
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Acrofrontofacionasal Dysostosis	Hypospadias, Camptodactyly of finger, Micromelia, Hypertelorism, Non-midline cleft lip, Cleft pal...	ORPHA:1784
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Hypertelorism, Long fingers, Bullet-shaped distal phalan...	ORPHA:1617
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Pallister-Hall-Like Syndrome	Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Hip dislocation, Cleft ...	OMIM:241800
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Distal Deletion 10P	Hypoplasia of penis, Hypertelorism, Non-midline cleft lip, Abnormality of the elbow, Cleft palate...	ORPHA:1580
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion	ORPHA:35099
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment	OMIM:616277
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Brachycephaly	ORPHA:2528
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Hypertelorism, Cutaneous syndactyly, Hypodontia, Clinodactyly, An...	OMIM:119580
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Hartsfield Syndrome	Hypertelorism, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius	ORPHA:2117
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
C Syndrome	Hepatomegaly, Renal cortical cysts, Cryptorchidism	OMIM:211750
Mosaic Trisomy 1	Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias	ORPHA:1692
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Polyhydramnios, Symphalangism affecting the phalanges o...	ORPHA:2547
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Fla...	OMIM:184260
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Hypertelorism, Clef...	OMIM:619736
Hydrolethalus	Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia	ORPHA:2189
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Hype...	OMIM:220500
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Hypertelorism, Non-midline cleft lip, Orofacial cle...	ORPHA:1752
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Clef...	OMIM:616730
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis, Aganglionic megacolon, Hypertelorism, Postaxial hand polydactyly, Foot polydactyly	ORPHA:2155
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia, Brachycephaly	ORPHA:66625
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Trisomy 1Q	Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Polyhydra...	ORPHA:261344
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula, Hypertelorism	OMIM:155145
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Nanophthalmos	Microphthalmia	ORPHA:35612
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu...	OMIM:612347
Craniotelencephalic Dysplasia	Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Frontal encephalocele, Microphthalmia	ORPHA:1528
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Short distal phalanx of...	OMIM:612916
Autosomal Recessive Amelia	Hypoplasia of penis, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Ac...	ORPHA:1027
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of me...	OMIM:300863
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th...	ORPHA:93267
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate	ORPHA:85273
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Hypertelorism, Abnormal hand bone o...	OMIM:300244
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Diastema, Deep ...	OMIM:605282
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Hypertelorism, Fibul...	OMIM:164745
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta...	ORPHA:79303
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Progressive hearing impairment, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia	OMIM:609286
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands	OMIM:300263
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ...	ORPHA:2549
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra...	OMIM:615665
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ...	ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism...	OMIM:618718
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Multiple renal cysts, Abnormal hip bone m...	ORPHA:1166
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Abnormally large globe, Posterior plagiocephaly, Rhizomelic arm shortening, Abnor...	ORPHA:96190
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Temtamy Syndrome	Brachydactyly, Short toe, Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia, Genu varum	ORPHA:1777
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Hypotelorism, D...	OMIM:612651
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Pierre-Robin sequence, Small hand, Cl...	OMIM:619980
Nanophthalmos 4	Microphthalmia	OMIM:615972
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ...	OMIM:613095
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Aminoaciduria, Albumi...	OMIM:214100
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy	OMIM:300983
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Hypertelorism,...	OMIM:612530
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly...	OMIM:614416
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Hypertelorism, Deeply se...	ORPHA:313781
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius, Polyhydramnios	ORPHA:3469
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Tetanus	Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Dysphagia, ...	ORPHA:3299
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cort...	ORPHA:397715
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Hypertelorism, Postaxial hand polydactyly, Non-midline...	ORPHA:2075
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia...	ORPHA:1770
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Spina bifida	ORPHA:1104
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Hypertelor...	ORPHA:2378
Jeune Syndrome	Nephropathy, Abnormality of the liver, Renal insufficiency, Nephronophthisis	ORPHA:474
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo...	OMIM:236500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Rh...	OMIM:616300
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hypertelorism	OMIM:235740
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Hypertelorism, Unilateral re...	OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Deeply set eye, Thin ...	ORPHA:544254
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Gala...	OMIM:222470
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Cleft palate, Hypotelorism, Micropenis	OMIM:615849
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Macrotia	OMIM:614407
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ...	OMIM:614078
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h...	OMIM:615994
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Parietal Foramina 1	Cleft palate, Cleft upper lip	OMIM:168500
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Prot...	OMIM:618348
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip	ORPHA:2476
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Plagio...	ORPHA:1101
Pierpont Syndrome	Short toe, Brachycephaly, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, P...	OMIM:602342
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Hypertelorism, Thick lower lip vermili...	OMIM:618950
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag...	ORPHA:3077
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Diamond-Blackfan Anemia 6	Cleft upper lip, Hypertelorism, Short thumb, Cleft palate, Triphalangeal thumb, Bifid uvula	OMIM:612561
Intellectual Developmental Disorder, Autosomal Recessive 74	EEG with polyspike wave complexes, Hyperactivity	OMIM:617169
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate	OMIM:601076
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Frontal bossing, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcane...	ORPHA:163966
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Tapered finger, Hypertelorism, Cleft lip, Narrow mouth, Small hand, Cleft palate, Sho...	OMIM:618089
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly	OMIM:601357
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Split-Hand/Foot Malformation 3	Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hypertelorism, Polydactyly, Nephroblastoma, Smooth philtrum	OMIM:602501
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling...	ORPHA:52368
3Mc Syndrome 3	Cleft upper lip, Hypertelorism, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidney,...	OMIM:248340
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p...	OMIM:602849
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly, Clinodactyly	OMIM:147950
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Hypospadias, Downtu...	OMIM:615761
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure	OMIM:602579
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Clef...	OMIM:239300
Distal Monosomy 7Q36	Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges o...	ORPHA:1636
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Hypertelorism, Cleft palate, High palate, Open mouth	OMIM:620021
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin upper lip vermilion, Tented upper lip vermilion, Rocker bottom foot, Single transverse palma...	OMIM:618622
Trisomy 17P	Hypoplasia of penis, Urethral valve, Tapered finger, Hypertelorism, Urethral stenosis, Orofacial ...	ORPHA:261290
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Pierpont Syndrome	Short toe, Brachycephaly, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthal...	ORPHA:487825
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening...	OMIM:146510
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper...	OMIM:305400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re...	OMIM:137920
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Verheij Syndrome	Thin upper lip vermilion, Renal agenesis, Hip dislocation, Renal hypoplasia, Cleft palate, Renal ...	OMIM:615583
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli...	ORPHA:1297
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Smith-Magenis Syndrome	Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, H...	ORPHA:819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Trisomy 9P	Dental crowding, Bilateral single transverse palmar creases, Hypertelorism, Non-midline cleft lip...	ORPHA:236
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Cln5 Disease	Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns...	ORPHA:228360
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Hypertelorism, Triangular mouth, Flattened epiphysis, Genu ...	OMIM:607131
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Non-midline cleft lip, Hypoplasia of ...	ORPHA:245
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Hypertelorism, S...	OMIM:311200
Pai Syndrome	Median cleft lip, Hypertelorism, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula	ORPHA:1993
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly, Polyhydramnios	ORPHA:261272
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease...	OMIM:614922
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hypertelorism, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Hypertelorism, Bilateral cleft lip and palate, Deep...	OMIM:618829
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger	OMIM:618725
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Cleft palate, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Abnormal di...	OMIM:268850
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p...	ORPHA:3210
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality ...	ORPHA:2538
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Pelger-Huet Anomaly	Abnormality of the dentition, Hypertelorism, Upper limb undergrowth, Gingival overgrowth, Polydac...	OMIM:169400
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge...	OMIM:200995
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer...	OMIM:232200
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi...	OMIM:615996
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis	ORPHA:382
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Coxa valga, Slender finger, Abnormality of the elbow, Brachycephaly, Flat acetab...	ORPHA:163649
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin...	ORPHA:921
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Small hand, Prominent occiput, Absent distal phalanges, Micropht...	OMIM:619339
Atelosteogenesis Type I	Short femur, Rhizomelia, Hypertelorism, Malrotation of colon, Abnormal ossification involving the...	ORPHA:1190
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Arachnodactyly, Postaxial polydactyly, Tapered finger, Brachycephaly, Genu valgu...	OMIM:619721
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia	ORPHA:411515
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Schisis Association	Renal agenesis, Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal a...	ORPHA:63862
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hypertelorism, Unilateral renal ...	OMIM:616362
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Microphthalmia, C...	ORPHA:228390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin...	OMIM:616812
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph...	OMIM:232220
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Dental malocclusion, Hypotelorism, Abn...	ORPHA:2115
Hypertelorism-Microtia-Facial Clefting Syndrome	Hypertelorism, Thenar muscle atrophy, Horseshoe kidney, Crossed fused renal ectopia, Median cleft...	ORPHA:2213
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car...	ORPHA:1215
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon...	ORPHA:2059
Diprosopus	Non-midline cleft lip, Cleft palate	ORPHA:1681
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation	OMIM:616733
Achondrogenesis, Type Ii	Frontal bossing, Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe...	OMIM:200610
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti...	OMIM:119800
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypertelorism, Hypopl...	OMIM:311900
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal...	ORPHA:221098
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Hypertelorism, Cleft palate, Renal cyst, Deepl...	OMIM:614424
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n...	OMIM:122470
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG abnormality,...	ORPHA:500180
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Tip-toe ...	ORPHA:565624
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis...	OMIM:605627
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Cofs Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:1466
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Polydactyly, Hypoplastic ischia, Hypertelorism	OMIM:616910
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Self-injurious behavior	OMIM:271980
Bohring-Opitz Syndrome	Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal...	OMIM:605039
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi...	ORPHA:261265
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia	OMIM:614702
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypsarrhythmia, Brady...	OMIM:220120
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Abnormality of the urinary system, Postaxial polydactyly	OMIM:213010
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Intrauterine growth retardation	ORPHA:195
Nail-Patella Syndrome	Biceps aplasia, Renal insufficiency, Glenoid fossa hypoplasia, Proteinuria, Glomerulonephritis, C...	OMIM:161200
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Ring Chromosome 10 Syndrome	Frontal bossing, Sandal gap, Tapered finger, Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Chromosome 22Q11.2 Deletion Syndrome, Distal	Smooth philtrum, Thin upper lip vermilion, Deeply set eye, Cleft palate	OMIM:611867
Moebius Syndrome	Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta...	OMIM:157900
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
Oculodentodigital Dysplasia	Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental ...	ORPHA:2710
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Acalvaria	Postaxial hand polydactyly, Cleft palate, Hypertelorism	ORPHA:945
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short foot	OMIM:607597
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Oligohy...	ORPHA:2145
Opitz Gbbb Syndrome	Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, Hypertelorism, Ves...	OMIM:300000
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Brachycephaly, Short foot, ...	ORPHA:264200
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh...	ORPHA:1507
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Hypertelorism, Duplication of phalanx of hallux, Orofa...	OMIM:243310
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension...	ORPHA:974
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Hypertelorism, ...	OMIM:613792
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad...	OMIM:305450
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypertelorism, Non-m...	ORPHA:3376
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Hypertelorism, Gingival overgrowth, ...	OMIM:616331
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Heart murmur	OMIM:606744
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Holoprosencephaly 11	Cleft lip, Proptosis, Cleft palate, Hypotelorism	OMIM:614226
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short th...	OMIM:600325
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Hypertelorism, Renal hypo...	ORPHA:2754
Recombinant 8 Syndrome	Camptodactyly of finger, Abnormality of the kidney, Cleft upper lip, Abnormality of the dentition...	ORPHA:96167
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ...	OMIM:194080
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Cleft palat...	ORPHA:1318
Dystonia-Deafness Syndrome 1	Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip	OMIM:607371
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A...	ORPHA:73246
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl...	ORPHA:246
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,...	OMIM:619534
Zaki Syndrome	Toe syndactyly, Renal agenesis, Long fingers, Wide mouth, Median pseudocleft lip, Ectrodactyly, H...	OMIM:619648
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas...	OMIM:613658
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft	ORPHA:77300
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Bardet-Biedl Syndrome 8	Brachycephaly, Postaxial polydactyly	OMIM:615985
Tetraamelia Syndrome 2	Bilateral cleft lip, Hypertelorism, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia	OMIM:618021
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Hypertelorism, Esophageal atresia, Abnormal renal morph...	ORPHA:59315
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon...	OMIM:620141
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Alagille Syndrome 1	Elevated hepatic transaminase, Duplicated collecting system, Hepatocellular carcinoma, Multiple s...	OMIM:118450
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Conica...	OMIM:263750
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w...	OMIM:261740
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Hypertelorism, Metaphyseal widening, Short long bone, Proptosis, Nar...	OMIM:263210
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation...	OMIM:244300
Pseudotrisomy 13 Syndrome	Renal agenesis, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia...	OMIM:264480
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm under...	OMIM:251230
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Osteoporosis-Pseudoglioma Syndrome	Frontal bossing, Crumpled long bones, Metaphyseal widening, Microphthalmia, Abnormal femoral neck...	ORPHA:2788
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Midface retrusion	ORPHA:1135
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip	OMIM:214300
Bresek Syndrome	Optic nerve hypoplasia, Postaxial hand polydactyly, Plagiocephaly, Microphthalmia, Intrauterine g...	ORPHA:85284
3Mc Syndrome 2	Hypospadias, Limited elbow movement, Cleft upper lip, Hypertelorism, Hip dislocation, Cleft palat...	OMIM:265050
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo...	ORPHA:3253
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h...	ORPHA:93258
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Hypertelorism, Flared met...	OMIM:616897
Trisomy 20P	Downturned corners of mouth, Short philtrum, Microdontia, Finger syndactyly, Hypospadias, Abnorma...	ORPHA:261318
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Monosomy 18P	Lymphedema, Brachycephaly, Hypertension, Microphthalmia, Brachydactyly	ORPHA:1598
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Hype...	OMIM:612582
Neurodevelopmental Disorder With Or Without Autism Or Seizures	EEG with burst suppression, Hyperactivity, Pulmonic stenosis, Hypsarrhythmia	OMIM:619239
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hypertelorism, Non-midline cleft ...	ORPHA:1908
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone...	ORPHA:90652
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Temtamy Syndrome	Aortic regurgitation, Frontal bossing, Hip dislocation, Short 2nd toe, Talipes equinovarus, Micro...	OMIM:218340
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver	ORPHA:234
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto...	ORPHA:1414
Multiple Pterygium Syndrome, X-Linked	Cleft palate, Hypertelorism, Short finger, Cleft upper lip	OMIM:312150
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Hypertelor...	OMIM:269860
Congenital Toxoplasmosis	Microphthalmia, Ascites, Intrauterine growth retardation	ORPHA:858
Sandestig-Stefanova Syndrome	Rocker bottom foot, Intrauterine growth retardation, Camptodactyly, Trigonocephaly, Microphthalmi...	OMIM:618804
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndact...	OMIM:129400
Solitary Median Maxillary Central Incisor	Cleft upper lip, Hypotelorism, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s...	ORPHA:404440
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Vacterl With Hydrocephalus	Anophthalmia, Polyhydramnios, Spina bifida, Hypoplasia of the radius, Hip dislocation, Microphtha...	ORPHA:3412
Silver-Russell Syndrome Due To A Point Mutation	Frontal bossing, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinoda...	ORPHA:397590
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertelorism, Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, W...	OMIM:619758
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Acitretin/Etretinate Embryopathy	Cupped ear, Microtia, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural h...	ORPHA:40366
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef...	ORPHA:261236
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Hearing impairment, Aggressive behavior	ORPHA:457260
Joubert Syndrome 37	Postaxial polydactyly, Hypertelorism, Deeply set eye, High palate, Micropenis, Hydronephrosis	OMIM:619185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr...	OMIM:615398
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera...	OMIM:113650
Holoprosencephaly 4	Hypotelorism, Median cleft lip, Median cleft lip and palate	OMIM:142946
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Conical tooth, Cleft upper lip, 2-3 toe syndactyly, Cleft ...	OMIM:106260
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac...	OMIM:601707
Renal Agenesis, Bilateral	Renal agenesis, Hypertelorism, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Si...	ORPHA:1848
Glutamine Deficiency, Congenital	Bradycardia, Low-set ears	OMIM:610015
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Pulmonary arterial hypertension	OMIM:300887
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht...	OMIM:266920
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco...	ORPHA:445038
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Martsolf Syndrome 1	Short metacarpal, Cardiac arrest, Metatarsus adductus, Slender ulna, Short toe, Osteopathia stria...	OMIM:212720
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:48431
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Propto...	OMIM:617895
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Cleft palate, Micropenis	OMIM:614838
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Bifid uvula, M...	OMIM:300373
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ...	ORPHA:3015
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Cleft upper lip, Pyloric stenosis, Hypotrophy of the small ha...	OMIM:610443
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip	ORPHA:398189
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Illum Syndrome	Bradycardia	OMIM:208155
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Hypertelorism, Cleft upper lip, Split hand, Clubbing, Cleft palate, Micropenis	OMIM:600460
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios	OMIM:619053
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Renal hypoplasia/aplas...	ORPHA:3186
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly	OMIM:619694
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Frontonasal Dysplasia 3	Microphthalmia, Brachycephaly	OMIM:613456
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy...	ORPHA:464329
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati...	ORPHA:552
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Hy...	OMIM:614701
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Ivic Syndrome	Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e...	OMIM:147750
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Optic Atrophy 11	Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ...	OMIM:617302
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Cleft ...	ORPHA:1335
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Hypertelorism, Cleft lip, 2-3 toe cutaneous syndactyly, Vesicoureteral ...	OMIM:618454
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy	OMIM:613155
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Chromosome 18Q Deletion Syndrome	Thin upper lip vermilion, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement...	OMIM:601808
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Acromelic Frontonasal Dysplasia	Median cleft lip, Hypertelorism, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial f...	ORPHA:1827
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ...	ORPHA:2010
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Cleft upper lip, Hypertelorism, Cleft palate, Wide mouth, Oligodontia, Acetabul...	OMIM:201180
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Broad hallux, Cleft uppe...	OMIM:154400
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Familial Thyroid Dyshormonogenesis	Sensorineural hearing impairment, Bradycardia	ORPHA:95716
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul...	ORPHA:157
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal...	ORPHA:1225
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Posteriorly rotated ears, Aganglionic megacolon, Cupped ear, Hypertension, Agitation...	OMIM:613870
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Bladder exstrophy	OMIM:217100
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Hypertelorism, Preaxial polydactyly, Preaxial foot polydactyly, Pate...	OMIM:603671
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvaria...	OMIM:618265
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Hypertelorism, Long fingers, Cleft palate, Thin verm...	OMIM:614294
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia	ORPHA:90322
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia	OMIM:308350
Kleefstra Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b...	ORPHA:261494
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy...	ORPHA:449395
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypertelorism, Hypoplas...	ORPHA:85201
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso...	OMIM:610042
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren...	OMIM:615560
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk...	OMIM:600430
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Anophthalmia	ORPHA:899
Stevenson-Carey Syndrome	Brachycephaly, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contracture of the hand	OMIM:611961
3Mc Syndrome 1	Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Hypertelorism, C...	OMIM:257920
Oculodentodigital Dysplasia	Neurogenic bladder, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 fi...	OMIM:164200
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ...	OMIM:305620
Emanuel Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Dental crowding, Unilateral renal agenesis...	ORPHA:96170
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Second metatarsal posteri...	OMIM:214150
Cerebrocostomandibular Syndrome	Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s...	OMIM:117650
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli...	ORPHA:1300
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized...	ORPHA:163681
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydactyly	OMIM:602361
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,...	OMIM:201000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ...	ORPHA:564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Mosaic Trisomy 9	Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ...	ORPHA:99776
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation	OMIM:610756
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe	OMIM:600118
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ...	OMIM:302960
Naxos Disease	Palmoplantar keratoderma, Cleft upper lip	ORPHA:34217
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Hypertelorism, Metatarsus adductus, Cleft palate, Aminoaciduria,...	OMIM:214110
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock...	OMIM:272950
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ...	ORPHA:1787
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom...	OMIM:193300
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Congenital Myopathy 17	Ureteropelvic junction obstruction, Tented upper lip vermilion, Overlapping toe, Tapered finger, ...	OMIM:618975
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand,...	OMIM:300968
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation	OMIM:261990
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Hypertelorism, Bilateral renal hypoplasia, Preaxial poly...	OMIM:243605
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, Narrow mouth, Epispadias, Submucous cleft ...	ORPHA:2588
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG...	ORPHA:168491
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Dolichocephaly	OMIM:167730
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang...	OMIM:604757
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Renal cyst	ORPHA:488618
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Cleft upper lip, Abnormality o...	OMIM:304110
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Edema, Hip dislocation, Hypertension, Camptodactyly, Microphthal...	OMIM:617729
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidn...	OMIM:250410
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia	OMIM:613327
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Polydactyly, Hydronephrosis	ORPHA:531151
Xylt1-Cdg	Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Proptosis, Thick vermilion border, ...	ORPHA:370930
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Uplifted earlobe, Impulsivity	OMIM:300143
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate	ORPHA:2521
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq...	ORPHA:199302
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Adams-Oliver Syndrome 2	Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of finger, Microph...	OMIM:614219
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Hypertelorism, Dilatation of the renal pelvis, Horsesh...	ORPHA:314588
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio...	ORPHA:891
Hartsfield Syndrome	Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Hypertelorism, Cleft palate, Hypotelo...	OMIM:615465
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla...	OMIM:200980
Kinsship Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Hypertelorism, Thick lower...	OMIM:619297
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Hypertelorism, Abnormal renal morphology, Cleft palate, ...	ORPHA:83
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger	OMIM:601355
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl...	OMIM:609128
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre...	OMIM:617600
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Abnormality of the dentition, Cleft upper lip	OMIM:273400
Laurence-Moon Syndrome	Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino...	ORPHA:373
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, EEG with ir...	ORPHA:1942
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Hip dislocation, Bilateral cleft lip and palate	ORPHA:2003
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour...	OMIM:129900
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Thick lower lip vermilion, Submucous cleft hard ...	OMIM:619103
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Robinow Syndrome	Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dyspla...	ORPHA:97360
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Mitral regurgitation, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane...	OMIM:619148
Proximal Spinal Muscular Atrophy	Inability to walk, Facial diplegia, Bradycardia, Difficulty walking, Dysphagia	ORPHA:70
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow...	ORPHA:290
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Holoprosencephaly	Encephalocele, Frontal bossing, Anophthalmia, Flat occiput, Spinal dysraphism, Branchial anomaly,...	ORPHA:2162
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	ORPHA:2886
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Bowing of the legs, Hypertelorism, Renal cyst, Macroglossia, ...	OMIM:617107
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia	OMIM:610768
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, Ab...	ORPHA:94093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Congenital Myopathy 22A, Classic	Waddling gait, Tricuspid regurgitation, Bradycardia	OMIM:620351
Baraitser-Winter Syndrome 2	Trigonocephaly, Microphthalmia	OMIM:614583
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Faciocardiorenal Syndrome	Hypertelorism, Cleft palate, Horseshoe kidney, Hypodontia, Narrow mouth, Smooth philtrum	ORPHA:1973
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Trisomy 18	Camptodactyly of finger, Abnormality of the upper urinary tract, Hypertelorism, Esophageal atresi...	ORPHA:3380
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Camp...	ORPHA:369891
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor...	ORPHA:99027
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Hypertelorism, Abnormal thumb morphology, Metata...	ORPHA:500095
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Hypertelorism, Ulnar bowing, Irregular femoral epiph...	OMIM:154780
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Hypertelorism	OMIM:217095
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel...	OMIM:604292
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida oc...	OMIM:618736
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Increased nuchal translucency, Hip dysplasia, Prominent fingertip pads, Overlapp...	OMIM:618494
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ...	OMIM:170390
Larsen Syndrome	Short metacarpal, Spatulate thumbs, Cleft upper lip, Elbow dislocation, Hypertelorism, Dislocated...	OMIM:150250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Cleft palate, Cleft upper lip	ORPHA:96181
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials	OMIM:619260
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Cleft palate, T...	ORPHA:33001
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Aniridia, Biparietal narrowing, Camptodactyly of to...	ORPHA:251038
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,...	ORPHA:2461
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage	ORPHA:335
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Rhizomelia, Overlapping toe, Arachnodactyly, Hypertelori...	ORPHA:3379
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Smooth phil...	OMIM:134780
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
1Q21.1 Microdeletion Syndrome	Frontal bossing, Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Talipes equi...	ORPHA:250989
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Oculodentodigital Dysplasia, Autosomal Recessive	Frontal bossing, Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyl...	OMIM:257850
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Abnormal dental...	ORPHA:2092
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Unilateral Ocular Duplication	Median cleft lip, Cleft palate, Hypertelorism	ORPHA:3374
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Edema, Telangiectasia, Polydactyly, Umbilical hernia, Ascites	ORPHA:93400
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Hypsarrhyth...	OMIM:619913
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Frontal bossing, Broad hallux, Single transverse palmar crease	OMIM:614105
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Joubert Syndrome 2	Renal insufficiency, Hypertelorism, Postaxial hand polydactyly, Renal cyst, Postaxial foot polyda...	OMIM:608091
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch...	OMIM:614099
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Hypertelorism, Dental malocclusion, Osteolytic defects of th...	OMIM:102500
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, ...	ORPHA:818
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Hypertelorism, Cleft palate, Renal cys...	OMIM:257300
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia	ORPHA:2505
Graves Disease, Susceptibility To, 1	Congestive heart failure, Hyperactivity, Polyphagia	OMIM:275000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ...	ORPHA:98794
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m...	ORPHA:96149
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Flat occiput, Lymphedema	OMIM:152950
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hyperte...	OMIM:109400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Polycystic ova...	ORPHA:79259
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Syndactyly, Short me...	OMIM:263650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Parathyroid ...	ORPHA:2237
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia, Pulmonic stenosis	ORPHA:137634
Fetal Alcohol Syndrome	Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Smooth philtrum	ORPHA:1915
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Swollen lip, C...	OMIM:256520
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Deeply set eye, Humeral pseudarthrosis, Oligodontia, Short philtrum...	ORPHA:2044
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Polyhydramnios, Prominent occiput, Hand clenching, Microphthalmia	OMIM:616920
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Cleft pa...	ORPHA:2167
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Frontonasal Dysplasia 2	Encephalocele, Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Microp...	OMIM:613451
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Tachycardia, Abnormal repetitive mannerisms, Hypoten...	ORPHA:79155
Muenke Syndrome	Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C...	ORPHA:53271
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Distal Deletion 15Q	Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Single transverse palmar cre...	ORPHA:1596
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri...	ORPHA:26791
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal medullary pyramid morphology	ORPHA:79243
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Hypertelorism, Dental malocclusion, 2-3 toe syndactyly, Vesicoureteral...	OMIM:606232
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn...	OMIM:300166
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Hypertelorism, Pyloric stenosis, Cleft palate, Hand polydactyly	ORPHA:261197
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Midface retrusion	OMIM:610829
Microphthalmia, Syndromic 9	Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis	OMIM:601186
Contractural Arachnodactyly, Congenital	Frontal bossing, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, ...	OMIM:121050
Refsum Disease	Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht...	ORPHA:773
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d...	OMIM:180750
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Arachnodactyly, Abnormality of the philtrum, Short hallux, Cleft upper l...	ORPHA:280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Sensorineural hearing impairment	OMIM:221400
Holoprosencephaly 3	Cleft lip, Cleft palate, Hypotelorism, Hydronephrosis, Proptosis, Solitary median maxillary centr...	OMIM:142945
H Syndrome	Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Decreased testicular size, Enlarged ki...	ORPHA:168569
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Hype...	OMIM:617925
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Hepatic failur...	ORPHA:912
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cys...	OMIM:270400
Microphthalmia, Syndromic 3	Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Hypertelorism, Cleft lip, Vesicoureteral reflux, Renal cyst, Furrowed to...	OMIM:616975
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic...	OMIM:619991
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, Club-shaped pro...	OMIM:108720
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add...	ORPHA:261349
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Brachycephaly, Midface retrusion	ORPHA:1791
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases	OMIM:618652
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn...	ORPHA:3472
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Micr...	OMIM:241410
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Warburg Micro Syndrome 2	Overlapping toe, Brachycephaly, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the ...	OMIM:614225
Robinow Syndrome, Autosomal Dominant 3	Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Short pha...	OMIM:616894
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Unilateral microphthalmos	OMIM:615085
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C...	OMIM:601701
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Premature Aging Syndrome, Penttinen Type	Frontal bossing, Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender l...	OMIM:601812
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Frontal bossing, Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5t...	OMIM:620098
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Propt...	OMIM:301022
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Cleft upper lip	ORPHA:894
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Achard Syndrome	Broad skull, Arachnodactyly, Brachycephaly	OMIM:100700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Frontal bossing, Microphthalmia	OMIM:617306
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia	OMIM:616881
Trisomy 10P	Thumb contracture, Abnormality of the kidney, Abnormality of the hand, Hypertelorism, Short toe, ...	ORPHA:171929
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo...	OMIM:615503
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate	OMIM:619122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypopla...	ORPHA:83617
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria	OMIM:232800
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Upper limb undergrowth,...	ORPHA:369837
Cerebrofaciothoracic Dysplasia	Hypertelorism, Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum	ORPHA:1394
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion	ORPHA:2526
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Aggressive behavior	OMIM:252920
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat...	OMIM:247200
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Brachycephaly	OMIM:612379
Cockayne Syndrome Type 1	Hypertension, Anophthalmia	ORPHA:90321
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid...	OMIM:209900
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, Microphthalmia, Broad th...	ORPHA:1236
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor...	OMIM:609053
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Hypertension, Abnormal tem...	ORPHA:449291
Cardiofacioneurodevelopmental Syndrome	Hypertelorism, Cleft lip, Cleft palate, Hypotelorism, Camptodactyly, Clinodactyly of the 5th fing...	OMIM:619123
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ...	OMIM:608670
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, Dental malocclusion, ...	OMIM:616580
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced...	OMIM:615873
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Unilateral renal agenesis, Cleft upper ...	OMIM:213980
Lujo Hemorrhagic Fever	Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia	ORPHA:319213
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Renal ...	OMIM:618460
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia, Low-set ears	OMIM:614653
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Progressive hearing impairment, Disinhibition, Gait disturban...	ORPHA:43
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proxima...	OMIM:212065
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d...	ORPHA:206448
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Intrauterine growth retardation	ORPHA:2728
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Hypertelorism, Cleft palate, Hypo...	OMIM:242840
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Frontal bossing, Hip dysplasia, Intrauterine growth retardation	ORPHA:494344
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Hypospadi...	OMIM:312870
Joubert Syndrome 23	Polydactyly	OMIM:616490
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Hallermann-Streiff Syndrome	Frontal bossing, Abnormality of the hand, Spina bifida, Metaphyseal widening, Scaphocephaly, Brac...	OMIM:234100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Short philtrum, Hi...	ORPHA:798
Melnick-Needles Syndrome	Tibial bowing, Ureteral stenosis, Hypertelorism, Cone-shaped epiphyses of the phalanges of the ha...	OMIM:309350
Larsen Syndrome	Finger syndactyly, Hypertelorism, Accessory carpal bones, Cleft palate, Abnormal epiphysis morpho...	ORPHA:503
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas...	ORPHA:116
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss...	OMIM:213300
Galloway-Mowat Syndrome 1	Flat occiput, Slender finger, Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand cl...	OMIM:251300
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Hypoplasia of ...	ORPHA:79328
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Pyloric st...	ORPHA:464306
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Accessory oral frenulum, Renal hypoplas...	ORPHA:1308
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit...	ORPHA:99827
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Attention deficit hyperactivity disorder	ORPHA:90674
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Dolichocephaly	ORPHA:2399
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move...	OMIM:261540
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper l...	ORPHA:861
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Shallow orbits, Phocomelia, Wrist flexion contracture, Syndactyly, ...	OMIM:268300
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val...	ORPHA:193
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ps...	OMIM:194190
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi...	OMIM:219000
Marden-Walker Syndrome	Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ...	OMIM:248700
Fanconi Anemia, Complementation Group F	Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro...	OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Intestinal...	ORPHA:2308
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t...	ORPHA:2163
Myhre Syndrome	Overlapping toe, Pericardial effusion, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Hype...	OMIM:139210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Cleft upper lip, Urethrovaginal fistula, Preaxial hand polydacty...	ORPHA:93271
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Chime Syndrome	Abnormal dental morphology, Abnormality of the kidney, Aplastic clavicle, Abnormality of the dent...	ORPHA:3474
Diamond-Blackfan Anemia 1	Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ...	OMIM:105650
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst	OMIM:617260
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Deeply set eye,...	ORPHA:534
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Tuberous Sclerosis 1	Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma, Renal cyst	OMIM:191100
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft palate, Cleft upper lip	OMIM:313850
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypertelorism, Cleft palate, Hypot...	OMIM:610828
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Frontal bossing, Overlapping toe, Dolichocephaly	OMIM:618571
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba...	OMIM:613254
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina...	OMIM:306955
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Abnormality of the epiphysis of the...	ORPHA:2988
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Hip dysplasia, Inflammation o...	OMIM:614576
Frontorhiny	Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum...	ORPHA:391474
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp...	ORPHA:79404
Peters Plus Syndrome	Ureteral duplication, Micromelia, Widely spaced teeth, Clinodactyly of the 5th finger, Renal dupl...	ORPHA:709
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,...	ORPHA:464738
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Brach...	OMIM:207410
Trichothiodystrophy 3, Photosensitive	Trigonocephaly, Microphthalmia, Intrauterine growth retardation	OMIM:616395
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ...	ORPHA:2556
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Brachycephaly	OMIM:614222
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Hypertelorism, Cleft palate, Rectovaginal fistula, ...	OMIM:270420
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Histidinemia	Hyperactivity	ORPHA:2157
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Hand polydactyly, Microphthalmia...	ORPHA:401973
Tetrasomy 9P	Dental crowding, Downturned corners of mouth, Deeply set eye, High palate, Short philtrum, Clinod...	ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Sandal gap, Cleft upper lip, Deep philtrum, 2-...	OMIM:251260
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Fraser Syndrome	Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Hypoplasia of penis, Multicyst...	ORPHA:2052
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Cleft upper lip, Open bit...	ORPHA:828
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia, Sensorineural hearing impairment	ORPHA:91355
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Intestinal malrota...	ORPHA:955
Linear Nevus Sebaceus Syndrome	Frontal bossing, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthalmia	ORPHA:2612
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Renal cyst, Short foot, Deeply...	ORPHA:464311
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal...	ORPHA:35173
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis, Self-mutilation	ORPHA:52503
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi...	ORPHA:2879
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Plagiocephaly, Delayed ossifi...	OMIM:620099
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Trigonocephal...	ORPHA:1587
Charge Syndrome	Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th fin...	ORPHA:138
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, High, narrow palate, Deeply set eye, High palat...	OMIM:180849
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavior, Decreased ne...	ORPHA:909
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, Femoral bowing, Abnorma...	OMIM:274000
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,...	OMIM:300960
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Long fingers, Brachycephaly	OMIM:156610
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Warburg Micro Syndrome 4	Microphthalmia, Brachycephaly	OMIM:615663
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Pancreatic ...	ORPHA:699
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Po...	OMIM:214800
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Single transverse pal...	ORPHA:404448
Atelis Syndrome 2	Frontal bossing, Single transverse palmar crease, Supravalvar pulmonary stenosis, Vitreous hemorr...	OMIM:620185
Weill-Marchesani Syndrome 1	Broad skull, Microspherophakia, Broad palm, Brachycephaly, Mitral regurgitation, Pulmonic stenosi...	OMIM:277600
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Syndromic Diarrhea	Hepatomegaly, Splenomegaly, Renal hypoplasia, Abnormality of the liver, Hypoplasia of the thymus,...	ORPHA:84064
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg...	OMIM:609136
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub...	ORPHA:99826
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Orofacial cleft, Abnormality of ...	ORPHA:1556
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Momo Syndrome	Frontal bossing, Bilateral microphthalmos, Brachycephaly, Femoral bowing, Large hands, Short ster...	ORPHA:2563
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Weill-Marchesani Syndrome 2	Short metacarpal, Broad skull, Congestive heart failure, Microspherophakia, Short metatarsal, Bra...	OMIM:608328
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Jaundice, Microvesicular hepatic steatos...	OMIM:300855
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Chand Syndrome	Short fifth metatarsal, Hydroureter, Hypertelorism, Cleft palate, Agenesis of permanent teeth, Ab...	ORPHA:1401
Degcags Syndrome	Bilateral renal hypoplasia, Hypotelorism, High palate, Syndactyly, Hypospadias, Hiatus hernia, Hy...	OMIM:619488
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper...	ORPHA:2729
Combined Oxidative Phosphorylation Deficiency 39	Hypsarrhythmia, Sinus bradycardia	OMIM:618397
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,...	ORPHA:464
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Renal tubular dysfunction, Hepatic failure	OMIM:614886
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication...	OMIM:236680
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ...	ORPHA:857
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the...	ORPHA:364577
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Short h...	ORPHA:1393
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial...	OMIM:113620
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Renal ins...	ORPHA:171
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla...	ORPHA:508498
Fanconi Anemia	Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly...	ORPHA:84
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis	OMIM:240300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:352665
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Long penis, Gingival overgrowth, Furrowed tongue, ...	ORPHA:769
Pallister-Hall Syndrome	Ectopic kidney, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Hypospadias, Acces...	ORPHA:672
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris...	OMIM:609049
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely...	ORPHA:199
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, Enlarged kid...	OMIM:618280
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Narrow mouth, Humeroradial synostosis...	ORPHA:3404
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Inability to walk, Optic atrophy, Bradycardia	ORPHA:97297
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly	OMIM:616449
3-Methylglutaconic Aciduria, Type Viii	Sensorineural hearing impairment, Bradycardia, Dysphagia	OMIM:617248
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in...	OMIM:301043
Mycophenolate Mofetil Embryopathy	Microphthalmia, Foot polydactyly, Hydrops fetalis, Short palm	ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Hypertension, Pulmonary arterial hypertension, Talipes equinovarus...	OMIM:100300
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Frontal bossing, Polyhydramnios, Increased nuchal translucency, Abnormality...	ORPHA:1052
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia	OMIM:609152
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci...	ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Optic nerve hypoplasia, Microphthalmia, Adducted thumb	OMIM:614643
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Proboscis	ORPHA:141099
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Pulmonary arterial hypertension, Tapered finger	ORPHA:65286
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Rodrigues Blindness	Microphthalmia	OMIM:268320
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Craniosynostosis, Tapered finger, Portal hypertension, Scaphocephaly, Small hand...	OMIM:620005
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial...	OMIM:309800
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hypertelorism, Unilateral renal agenesis, Hip dysplasia, Cli...	ORPHA:457284
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Cleft palate, Urethral atresia, Hypoplastic pelvis, Anal atresia	OMIM:273395
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Jacobsen Syndrome	Flat occiput, Macular hypoplasia, Clinodactyly of the 5th finger, Trigonocephaly, Microphthalmia,...	OMIM:147791
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Hallermann-Streiff Syndrome	Frontal bossing, Congestive heart failure, Small hand, Brachycephaly, Short foot, Clinodactyly of...	ORPHA:2108
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th...	OMIM:300895
Aicardi Syndrome	Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hi...	ORPHA:50
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand, Intrauterine growth retardation	ORPHA:2714
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th...	OMIM:192350
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease	OMIM:614230
Cockayne Syndrome A	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:216400
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia	OMIM:610217
Rothmund-Thomson Syndrome, Type 2	Frontal bossing, Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot,...	OMIM:268400
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Tapered finger, Cyst o...	ORPHA:480880
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral ren...	ORPHA:268261
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnor...	ORPHA:353277
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum...	ORPHA:306542
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Pyloric ste...	ORPHA:1606
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Overlapping toe, Single transverse palmar crease, Hip dislocation, Umbilical her...	OMIM:613884
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Hypertelorism, Ectopi...	OMIM:607872
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati...	ORPHA:774
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Macroglossia, Cleft palate, Cleft upper lip	OMIM:613150
Orofaciodigital Syndrome Xiv	Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer...	OMIM:615948
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Cockayne Syndrome B	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Monosomy 9P	Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Brachyc...	ORPHA:261112
Craniosynostosis And Dental Anomalies	Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos...	OMIM:614188
Choanal Atresia	Polydactyly, Craniosynostosis	ORPHA:137914
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
22Q11.2 Deletion Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Aganglionic megacolon, Intestinal malrotation,...	ORPHA:567
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Frontofacionasal Dysplasia	Brachycephaly, Cranium bifidum occultum, Microphthalmia, Midface retrusion, Hypoplasia of the fro...	OMIM:229400
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ...	OMIM:227645
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Phocomelia, Mi...	OMIM:184705
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Deeply set ey...	ORPHA:261537
Combined Immunodeficiency-Enteropathy Spectrum	Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess	ORPHA:436252
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Pagod Syndrome	Abnormality of the spleen, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypopl...	ORPHA:991
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Renal cy...	OMIM:601803
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Orofacial cleft, Methylmalonic aciduria, 3-Methylglutaco...	ORPHA:17
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Frontal bossing, Turricephaly, Mesoaxial foot polydactyly, Overlapping toe,...	OMIM:612474
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope...	ORPHA:96092
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Holoprosencephaly 14	Cleft lip, Cyclopia, Median cleft lip, Cleft palate	OMIM:619895
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Polyhydramnios, Postaxial hand polydactyly, Umbilical hernia, Microphthalmia	ORPHA:2166
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Anal atresia, Renal dysplasia, Cleft palate, Cleft upper lip	OMIM:236670
Mowat-Wilson Syndrome	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Deeply set ey...	ORPHA:2152
Baller-Gerold Syndrome	Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of t...	OMIM:218600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia	ORPHA:226307
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Broad hallux, Single transverse palmar crease, Polyhydramnios, Pulmonary arterial...	OMIM:620186
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val...	ORPHA:744
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot...	OMIM:619471
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum	OMIM:612731
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Fontaine Progeroid Syndrome	Syndactyly, Turricephaly, Tricuspid regurgitation, Craniosynostosis, Brachycephaly, Oligohydramni...	OMIM:612289
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Abnormal pinna morphology, Bradycardia, Low-set ears	OMIM:614437
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Micro Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Distal Duplication 5Q	Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Neurocardiofaciodigital Syndrome	Syndactyly, Thin vermilion border, High palate, Polydactyly, Vesicoureteral reflux	OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis	ORPHA:79095
Williams Syndrome	Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, C...	ORPHA:904
Fraser Syndrome 2	Microphthalmia, Oligohydramnios, Cutaneous syndactyly	OMIM:617666
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Difficulty walking, Dysphagia	OMIM:619482
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Alobar Holoprosencephaly	Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil...	ORPHA:93924
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Semilobar Holoprosencephaly	Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil...	ORPHA:220386
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Deeply set ey...	ORPHA:261552
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size	OMIM:300534
Witteveen-Kolk Syndrome	Frontal bossing, Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal pla...	OMIM:613406
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size	OMIM:615287
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Bilateral talipes equinovarus, Microphthalmia, Intrauterine growth r...	OMIM:614083
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Pollakisuria, Anal atresia	ORPHA:647
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration...	OMIM:610168
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb	OMIM:618874
Aicardi Syndrome	Hiatus hernia, Cleft palate, Proximal placement of thumb, Cleft upper lip	OMIM:304050
Dubowitz Syndrome	Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing...	OMIM:223370
Cat Eye Syndrome	Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis	OMIM:115470
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia	OMIM:601552
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry	OMIM:163200
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Multicysti...	OMIM:606170
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c...	ORPHA:508488
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal occipital bone morphol...	ORPHA:468631
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:309801
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine	OMIM:263700
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Micropenis, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbl...	ORPHA:264450
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Trichothiodystrophy	Craniosynostosis, Bilateral microphthalmos, Clubbing, Cardiomyopathy, Umbilical hernia, Intrauter...	ORPHA:33364
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena...	OMIM:308205
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97261
Legius Syndrome	Nephrolithiasis, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenosis, Clinodactyly o...	ORPHA:137605
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening...	ORPHA:93325
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage	OMIM:308300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi...	OMIM:164210
Renpenning Syndrome 1	Brachycephaly, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the proximal phalanx ...	OMIM:309500
Hereditary Spherocytosis	Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis	ORPHA:822
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Midface retrusion	OMIM:603457
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Holoprosencephaly 1	Microphthalmia, Midface retrusion, Proboscis	OMIM:236100
Cockayne Syndrome Type 3	Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, Microphthalmia	ORPHA:90324
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis	ORPHA:171876
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder,...	ORPHA:2255
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples...	OMIM:618268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Midface retrusion	OMIM:253280
Cockayne Syndrome	Retinal hemorrhage, Hypertension, Abnormal epiphysis morphology, Microphthalmia, Thickened calvaria	ORPHA:191
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomega...	OMIM:188400
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Hypotension, Abnormal digit morphology	ORPHA:95494
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Wiedemann-Rautenstrauch Syndrome	Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of fi...	ORPHA:3455
Holoprosencephaly 2	Microphthalmia, Midface retrusion, Proboscis	OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,...	OMIM:175780
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Pmm2-Cdg	Thin upper lip vermilion, Proteinuria, Hypertelorism, Long fingers, Wide mouth, Nephrotic syndrom...	ORPHA:79318
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh...	ORPHA:77293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis	ORPHA:2072
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ovarian car...	ORPHA:273
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:235730
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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 Dzip1l

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 Dzip1l.

No publications found that use IMPC mice or data for Dzip1l.

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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
Dzip1l^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dzip1l^{tm42107(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dzip1l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dzip1l^{tm42107(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dzip1l^em1(IMPC)J	Exon Deletion	Mice

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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Gene: Dzip1l MGI:1919757

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

X-ray

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Dzip1l mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data