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Gene: Dzip1l MGI:1919757

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Gene Summary

Name:
DAZ interacting protein 1-like
Synonyms:
2610524A10Rik

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
anophthalmia Dzip1lem1(IMPC)J HOM E15.5 0.00
polydactyly Dzip1lem1(IMPC)J HOM E15.5 0.00
microphthalmia Dzip1lem1(IMPC)J HOM E15.5 0.00
polydactyly Dzip1lem1(IMPC)J HOM E18.5 0.00
anophthalmia Dzip1lem1(IMPC)J HOM E18.5 0.00
abnormal head shape Dzip1lem1(IMPC)J HOM E15.5 0.00
edema Dzip1lem1(IMPC)J HOM E15.5 0.00
increased vertical activity Dzip1lem1(IMPC)J HET Early adult 2.89×10-05
preweaning lethality, complete penetrance Dzip1lem1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Dzip1lem1(IMPC)J HOM E18.5 0.00
hemorrhage Dzip1lem1(IMPC)J HOM E15.5 0.00
abnormal craniofacial morphology Dzip1lem1(IMPC)J HOM E15.5 0.00
abnormal auditory brainstem response Dzip1lem1(IMPC)J HET   Early adult 6.91×10-07

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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 Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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PDF thumbnail PDF
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.

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
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... ORPHA:731

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... OMIM:616217
Nephronophthisis 9
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease OMIM:613824
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... OMIM:601331
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Multicystic kidney dysplasia, Malformati... OMIM:607361
Schizophrenia 15
Hyperactivity OMIM:613950
Nephronophthisis 20
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... OMIM:617271
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... OMIM:619902
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip, Renal agenesis, Renal hypoplasia OMIM:236110
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... OMIM:615382
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Cleft upper lip, Hypertelorism ORPHA:3316
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Syndactyly, Cleft palate, Stillbirth, Upper limb phoco... ORPHA:294975
Disorganization, Mouse, Homolog Of
Hand polydactyly, Hip dislocation, Cleft palate, Limb duplication, Cleft upper lip OMIM:223200
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... ORPHA:93109
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Renal dysplasia, Abnormal biliary tract morphology, Abnorma... ORPHA:3032
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... OMIM:208540
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... OMIM:600803
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... OMIM:210500
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Multiple Synostoses Syndrome 3
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Proptosis, Cubitus valgus, Humero... OMIM:612961
Split hand/foot malformation 1 (SHFM1)
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... DECIPHER:46
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Stage 5 chronic kidney disease, Cholestasis, Bile ... OMIM:267010
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... OMIM:614377
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Irregular dentition, Median cleft lip, Cleft upper lip, Fusion of gums, Cleft lower lip ORPHA:401942
Meckel Syndrome, Type 6
Renal cyst, Horseshoe kidney, Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cyst... OMIM:612284
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Charlie M Syndrome
Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Narrow mouth, N... ORPHA:1406
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Re... OMIM:603860
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence... OMIM:311895
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... OMIM:602418
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Nephronophthisis 18
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis,... OMIM:615862
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... OMIM:602347
Joubert Syndrome 6
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, 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
Large hands, Cleft upper lip, Orofacial cleft, Preaxial hand polydactyly ORPHA:85287
Bardet-Biedl Syndrome 7
Polydactyly, Postaxial polydactyly, Deeply set eye, Narrow mouth, 2-3 toe syndactyly, Clinodactyl... OMIM:615984
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Juberg-Hayward Syndrome
Limited elbow extension, Anteriorly placed anus, Horseshoe kidney, Abnormal toe morphology, Aplas... OMIM:216100
Keratoconus Posticus Circumscriptus
Recurrent urinary tract infections, Cleft palate, Brachydactyly, Clinodactyly of the 5th finger, ... OMIM:244600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Cleft Lip With Or Without Cleft Palate
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... ORPHA:1991
Nephronophthisis 3
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... OMIM:604387
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
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra... OMIM:613812
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Gly... OMIM:614817
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Abnormality of the kidney, Polydactyly, Renal cyst, Syndactyly, Bra... OMIM:615982
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis OMIM:615993
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip, Hypertelorism OMIM:300484
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... ORPHA:79302
Coach Syndrome 3
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:619113
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... OMIM:263200
Cerebrooculofacioskeletal Syndrome 3
Edema, Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Talipes equinovarus OMIM:616570
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Camptodactyly of finger, Abnormal intestine morphology, Clinodact... ORPHA:3080
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Renal cortical cysts, Jaundice, Glycosuria, Hepatomegaly, Glutaric a... OMIM:231680
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Diastema, Cleft lip, Preaxial polydactyly, Postaxial polydactyly,... OMIM:617927
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:619662
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver ORPHA:140976
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Abnormal distal phalanx morphology of finger, Abnormal hip bone morphology, Cleft palate, Clinoda... ORPHA:2725
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Orofaciodigital Syndrome Type 5
Bifid uvula, Supernumerary tooth, Bifid tongue, Abnormality of the philtrum, Postaxial foot polyd... ORPHA:2919
Meckel Syndrome, Type 8
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Pericardial effusion, Talipe... OMIM:613885
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip, Hypertelorism ORPHA:2007
Isolated Polycystic Liver Disease
Polycystic liver disease, Multiple renal cysts, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... OMIM:606966
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... ORPHA:320401
Isolated Biliary Atresia
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... ORPHA:30391
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Phenobarbital Embryopathy
Unilateral cleft lip, Aplasia/Hypoplasia of fingers, Hypospadias, Hypertelorism, Brachydactyly ORPHA:1919
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy ORPHA:1909
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function OMIM:600666
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Nephronophthisis 15
Elevated hepatic transaminase, Nephronophthisis OMIM:614845
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... OMIM:618061
Mmep Syndrome
Median cleft lip, Triphalangeal thumb, Orofacial cleft, Split foot ORPHA:3434
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly, In... OMIM:613027
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Nephronophthisis 1
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... OMIM:256100
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Proteinuria, Jaundice, Chronic kidney disease, Renal cyst, Renal insuff... OMIM:208500
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia, Cleft palate, Abnormal ... ORPHA:971
Aa Amyloidosis
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... ORPHA:85445
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Hyperparathyroidism 2 With Jaw Tumors
Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatiti... OMIM:145001
Say Syndrome
Proximal renal tubular acidosis, Ulnar deviation of the 3rd finger, Short distal phalanx of finge... OMIM:181180
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Portal hypertensi... OMIM:607626
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves ... OMIM:301008
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Abnorma... ORPHA:3104
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Orofacial Cleft 14
Median cleft lip OMIM:615892
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... OMIM:183600
Arthrogryposis, Distal, Type 1C
Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ... OMIM:619110
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Abnormal shoulder mor... ORPHA:3181
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Facial Clefting, Oblique, 1
Cleft upper lip, Deep palmar crease, Cleft palate OMIM:600251
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Radial club hand, Renal insufficiency, Abnormal morphology of the radius, Cleft palate,... ORPHA:2165
Senior-Loken Syndrome
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney dis... ORPHA:3156
Mpdu1-Cdg
Renal cortical cysts, Decreased response to growth hormone stimulation test ORPHA:79323
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Carpenter Syndrome
Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Turricephaly, Umbilical hernia, Fing... ORPHA:65759
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Hypotelorism, Downturned corners of mouth, Smooth philtrum, Short philtrum, Cleft... OMIM:613192
Orofaciodigital Syndrome Xvii
Clinodactyly, Micropenis, Polydactyly, Central Y-shaped metacarpal, High, narrow palate, Clubbing... OMIM:617926
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Orofaciodigital Syndrome Iv
Short finger, Clinodactyly, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia, Fo... OMIM:258860
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Renal tubular atrophy, Tubular basement membrane disintegration, Stage 5 ch... OMIM:613159
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... OMIM:615415
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Microphthalmia ORPHA:2432
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... OMIM:615297
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... OMIM:618167
Alagille Syndrome 2
Proteinuria, Cholestatic liver disease, Renal cyst, Cholestasis, Renal insufficiency, Hematuria, ... OMIM:610205
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... ORPHA:730
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Hematuria, Cleft palate OMIM:120433
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... OMIM:613550
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Cleft palate, Preaxial foot polydactyly, Meta... OMIM:252100
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper lip, Cone-s... OMIM:613091
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Coach Syndrome 1
Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Hepatomegaly, Nephronophth... OMIM:216360
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Finger joint hypermobility, Micropenis, Unilateral renal agenesis, Cleft palate, Hypotelorism, Cl... OMIM:244200
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Ectopic kidney, Cleft palate, Narrow mouth, Short 5th finger, 2-3 toe synd... OMIM:239800
Senior-Loken Syndrome 3
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polyuria OMIM:606995
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Micropenis, Bifid uvula, Renal cyst, Postaxial polydac... OMIM:614175
Hardikar Syndrome
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Decreased liver function, In... OMIM:301068
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Stage 5 chronic kidney disease, ... ORPHA:84081
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Cleft upper lip, Renal cyst OMIM:231060
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Campomelia, Cumming Type
Polycystic liver disease, Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia OMIM:211890
Joubert Syndrome 18
Camptodactyly, Renal cyst, Horseshoe kidney, Postaxial polydactyly, Trident pelvis, Cleft palate,... OMIM:614815
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, High palate, Short distal phalanx of finger, Agenesis of permanent t... OMIM:614091
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Microphthalmia, Orbital encephalocele OMIM:164180
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Absent radius, Cleft palate OMIM:179400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Anodontia, Microdontia, Cleft palate, Hypodontia, Cutaneous finger s... OMIM:225060
Joubert Syndrome 20
Renal cyst OMIM:614970
Polysyndactyly With Cardiac Malformation
Renal cyst, Syndactyly, Stillbirth, Duplication of phalanx of hallux, Preaxial hand polydactyly, ... OMIM:263630
Senior-Loken Syndrome 8
Global glomerulosclerosis, Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithe... OMIM:616307
Microphthalmia, Syndromic 8
Cleft palate, Cleft upper lip, Widely-spaced maxillary central incisors, Orofacial cleft, Split foot OMIM:601349
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Cleft palate, Complete duplication of thumb phalanx, Non-midline cleft lip... OMIM:141400
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Short tibia, Accessor... OMIM:258865
D-Bifunctional Protein Deficiency
Renal cyst, Cholestasis, Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, He... OMIM:261515
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Elevated hepatic transaminase, Decreased liver function, Renal cyst OMIM:614883
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Burn-Mckeown Syndrome
Bifid uvula, Unilateral renal agenesis, Cleft palate, Narrow mouth, Thin vermilion border, 2-3 to... OMIM:608572
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Abnormal palate morphology, Radioulnar synostosis, Carious teeth, M... ORPHA:3270
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Small thenar eminence, Stage 5 chronic kidney disease, Rectal atres... OMIM:613390
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormality of fibula morphology, Hip dysplasia, Renal hypoplasia/ap... ORPHA:1988
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Cryptorchidism, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Hepatoblas... OMIM:130650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... OMIM:174000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Trisomy 13
Calvarial skull defect, Bilateral single transverse palmar creases, Hydrops fetalis, Ectrodactyly... ORPHA:3378
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Cleft palate, Long fingers, ... ORPHA:1617
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly OMIM:610023
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, 3-Methylglutaco... OMIM:618329
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the dentition, Finger syndactyly, Cleft palate, Everted l... ORPHA:915
Joubert Syndrome 5
Renal cortical cysts, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiat... OMIM:610188
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Frontonasal Dysplasia 1
Median cleft palate, Clinodactyly, Camptodactyly, Joint contracture of the hand, Brachydactyly, P... OMIM:136760
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... OMIM:125250
Caroli Syndrome
Cholangitis, Polycystic kidney dysplasia, Jaundice, Abnormality of the kidney, Liver abscess, Int... ORPHA:480520
Jawad Syndrome
Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,... OMIM:251255
Non-Syndromic Bicoronal Craniosynostosis
Midface retrusion, Brachycephaly, Metacarpal synostosis, Brachydactyly ORPHA:35099
Orofaciodigital Syndrome Vi
Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul... OMIM:277170
Focal Segmental Glomerulosclerosis 1
Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedulla... OMIM:603278
Orofaciodigital Syndrome V
High palate, Postaxial foot polydactyly, Bifid uvula, Postaxial polydactyly, Horseshoe kidney, An... OMIM:174300
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... ORPHA:888
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Deeply set eye, Cleft palate, Tented upper lip vermilion, Broad thumb, Cutaneous syndactyly, Shor... OMIM:600987
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Distal Deletion 10P
Anal atresia, Polycystic ovaries, Abnormality of the elbow, Cleft palate, Hypoplasia of penis, Cl... ORPHA:1580
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst OMIM:611773
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Abnormal finger morphology, Abnormality of the wrist, Large iliac wing, Abn... ORPHA:2511
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia ORPHA:2528
Blepharocheilodontic Syndrome 1
Conical tooth, Anal atresia, Cutaneous syndactyly, Hypodontia, Clinodactyly, Cleft upper lip, Hyp... OMIM:119580
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis, Hepatic fibrosis, Neph... OMIM:616629
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Bowing of the arm, Cleft palate OMIM:249710
C Syndrome
Renal cortical cysts, Cryptorchidism, Hepatomegaly OMIM:211750
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Hartsfield Syndrome
Cleft palate, Non-midline cleft lip, Hypertelorism, Split hand, Aplasia/Hypoplasia of the radius ORPHA:2117
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... OMIM:617519
Renal Coloboma Syndrome
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... ORPHA:1475
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Renal cyst, Hepatic agenesis, Penile hypospadias ORPHA:1692
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Finger syndactyly, Abnormal metacarpal morphology, Cleft palate,... ORPHA:3429
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Polyhydramnios, Microphthalmia, Symphalangism affecting the phalanges of... ORPHA:2547
Acrofrontofacionasal Dysostosis
High palate, Short distal phalanx of finger, Camptodactyly of finger, Abnormal epiphysis morpholo... ORPHA:1784
Hyperbiliverdinemia
Green urine, Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia, Brachycephaly ORPHA:66625
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, High palate, Short distal phalanx of finger, Long thumb, Cleft palate, Everted lower ... OMIM:220500
Otopalatodigital Syndrome Type 1
Oligodontia, Short distal phalanx of finger, Anodontia, Short thumb, Proximal placement of thumb,... ORPHA:90650
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Micropenis, Cleft palate, Renal dysplasia, Toe synda... OMIM:241800
Teebi Hypertelorism Syndrome 2
High palate, Syndactyly, Microdontia, Cleft palate, Everted lower lip vermilion, Clinodactyly of ... OMIM:619736
Acrocallosal Syndrome
Bifid uvula, Cleft palate, Preaxial foot polydactyly, Narrow mouth, Prominent palatine ridges, To... OMIM:200990
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, High palate, Diffuse mesangial sclerosis, Stage 5 chronic kid... OMIM:616730
Trisomy 8Q
High palate, Camptodactyly of finger, Deep palmar crease, Cleft palate, Hypoplasia of penis, Ever... ORPHA:1752
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Trisomy 1Q
Increased nuchal translucency, Camptodactyly of finger, Hydrops fetalis, Polyhydramnios, Toe synd... ORPHA:261344
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon, Postaxial hand polydactyly, Foot polydactyly, Renal agenesis, Hypertelorism ORPHA:2155
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... ORPHA:731
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Nanophthalmos
Microphthalmia ORPHA:35612
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula, Hypertelorism OMIM:155145
Zechi-Ceide Syndrome
Short distal phalanx of finger, Oligodontia, Short metatarsal, Cleft palate, Sandal gap, Cleft up... OMIM:612916
Autosomal Recessive Amelia
Acromelia of the lower limbs, Amelia involving the upper limbs, Hypoplasia of penis, Non-midline ... ORPHA:1027
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Polycystic kidney dysplasia, Hepatosplenomegaly, Jaundice, Cryptorchid... OMIM:614866
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Short metatarsal, Microdontia, Syndactyly, Cleft palate, Bra... OMIM:605282
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Cutaneous syndactyly, Talipes equinovaru... OMIM:236500
Hydrolethalus
Polyhydramnios, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Arrhinencephaly, Anophth... ORPHA:2189
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly, Microphthalmia, Anoph... ORPHA:139471
Cranioectodermal Dysplasia 2
Cholangitis, Left ventricular hypertrophy, Renal cyst, Cholestasis, Renal insufficiency, Bile duc... OMIM:613610
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Renal cyst, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic tr... ORPHA:79303
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal m... ORPHA:2631
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Oculoauriculovertebral Spectrum With Radial Defects
Renal hypoplasia/aplasia, Short mandibular rami, Aplasia/Hypoplasia of the thumb, Cleft palate, E... ORPHA:2549
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, Microphthalmia, Postaxial hand polyd... OMIM:615665
Fanconi Anemia, Complementation Group J
Short thumb, Intrauterine growth retardation, Microphthalmia OMIM:609054
Temtamy Syndrome
Genu varum, Microphthalmia, Brachydactyly, Short toe, Dolichocephaly, Clinodactyly of the 5th finger ORPHA:1777
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Multiple renal cysts, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Cle... ORPHA:1166
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Genu varum, Metaphyseal cupping, Small epiphyses, Metaphyseal wideni... OMIM:184260
Curry-Jones Syndrome
Craniosynostosis, Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of ... ORPHA:1553
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cloverleaf skull, Platybasia, Abnormal metaphysis morphology, Proximal placement of thumb, Abnorm... ORPHA:93267
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip, Cleft palate ORPHA:2476
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... OMIM:613095
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Cryptorchidism, Albuminuria, Hepatomegaly, Prolonged n... OMIM:214100
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Cleft palate, Downturned corners of mouth... ORPHA:94066
Braddock-Carey Syndrome 1
Clinodactyly, Camptodactyly, Anteriorly placed anus, Enamel hypoplasia, Everted lower lip vermili... OMIM:619980
Omodysplasia 2
Short humerus, Micropenis, Dislocated radial head, Broad femoral neck, Cleft palate, Tented upper... OMIM:164745
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Oligodactyly, Brachycephaly, Occipital encephalocele, Humeroradial synostosis, ... OMIM:614416
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Deeply set eye, Widely spaced teeth, Deep philtrum, Cleft palate, Tented upper lip v... OMIM:612530
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Genitopalatocardiac Syndrome
Cleft palate, Brachydactyly, Downturned corners of mouth, Postaxial hand polydactyly, Non-midline... ORPHA:2075
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
20P13 Microdeletion Syndrome
Polydactyly, Deeply set eye, Finger syndactyly, Tented upper lip vermilion, Brachydactyly, Smooth... ORPHA:313781
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Abnormality of the ureter, Polycystic ovaries, Renal hypoplasia/apla... ORPHA:1770
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Intestinal malrotation, Preaxial polydactyly, Radial bowing, Postaxi... OMIM:617866
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Aciduria, Jaundice, Bile duct proliferation, Hepatomegaly, Elevated hepati... OMIM:203700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Renal insufficiency, Hypocalciuria, Multiple small medullary renal cysts, Nephrolit... OMIM:600740
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... OMIM:613092
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Supernumerary nipple, Renal insufficiency, Elevated hepatic transaminase, R... ORPHA:397715
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... ORPHA:1106
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... ORPHA:2378
Jeune Syndrome
Renal insufficiency, Nephropathy, Nephronophthisis, Abnormality of the liver ORPHA:474
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypotelorism, Single transverse palmar crease, Brachydactyly, Tibial bowing, Uln... OMIM:612651
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis, Aganglionic megacolon, Hypertelorism OMIM:235740
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Overlapping fingers, Preaxial polydactyly, Overlapping toe, Bilateral ta... OMIM:618142
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Abnormal tongue physiology, Postaxial polydactyly, Deeply set eye, Narrow mouth, Thi... ORPHA:544254
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Jaundice, Cholestasis, Galactosuria, Hepatic fibrosis, Hepatomegaly, C... OMIM:222470
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly OMIM:218670
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Stage 5 chronic kidney disease, Micropenis, Polydactyly, Renal cyst, ... OMIM:615994
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, ... ORPHA:1528
Terminal Osseous Dysplasia
Camptodactyly of finger, Camptodactyly of toe, Syndactyly, Accessory oral frenulum, Cleft palate,... OMIM:300244
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Camptodactyly of finger, Mitral regurgitation, Ulnar deviation of finger, Umbilica... ORPHA:1101
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Incomplete cleft of the upper lip, Cleft palate, Bifid tongue, Hypoplastic pelvis, L... OMIM:616300
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata... OMIM:219730
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Proteinuria, High palate, Diffuse mesangial sclerosis, Stage 5 chronic kid... OMIM:618348
Acrocardiofacial Syndrome
Split foot, Anal atresia, Camptodactyly of finger, Hallux valgus, Finger syndactyly, Abnormal met... ORPHA:2008
Pierpont Syndrome
Short finger, Brachycephaly, Deep palmar crease, Microphthalmia, Midface retrusion, Short toe, Br... OMIM:602342
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Limited elbow extension, High palate, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Ulnar dev... ORPHA:93359
Paternal Uniparental Disomy Of Chromosome 5
Short lower limbs, Posterior plagiocephaly, Abnormally large globe, Polyhydramnios, Abnormal fibu... ORPHA:96190
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ... ORPHA:521219
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping, Hypoplasia of the calcaneus, Intrauterine growth retardation, Microphthalmia... OMIM:300863
Culler-Jones Syndrome
Micropenis, Postaxial polydactyly, Cleft palate, Hypotelorism, Cleft upper lip OMIM:615849
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Cryptorchidism, Hypoplasia of the bladder, Asplenia, Abnormality of ... OMIM:249000
Suleiman-El-Hattab Syndrome
Hydronephrosis, High palate, Polydactyly, Brachydactyly, Downturned corners of mouth, Long philtr... OMIM:618950
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Diamond-Blackfan Anemia 6
Short thumb, Bifid uvula, Cleft palate, Triphalangeal thumb, Cleft upper lip, Hypertelorism OMIM:612561
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Smooth philtrum, Nephroblastoma, Hypertelorism OMIM:602501
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Cleft palate, Narrow mouth, Split hand, Renal hypoplasia OMIM:246560
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... ORPHA:400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Bilateral cleft lip, Bilateral cleft palate, Cleft upper lip OMIM:601357
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Orofaciodigital Syndrome Type 1
Cleft palate, Short toe, Preaxial hand polydactyly, Lobulated tongue, Broad alveolar ridges, Mult... ORPHA:2750
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Cleft lip, Deeply set eye, Cleft palate, Everted lower lip vermilion, Narrow mouth, ... OMIM:618089
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Senior-Loken Syndrome 1
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... OMIM:266900
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
3Mc Syndrome 3
Penoscrotal hypospadias, Micropenis, Preaxial polydactyly, Horseshoe kidney, Cleft palate, Radiou... OMIM:248340
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Tooth agenesis, Micropenis, Ectrodactyly, Cleft palate, Clinodactyly, Cleft upper lip OMIM:147950
Muenke Syndrome
Clinodactyly, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Thimble-shaped middle phala... OMIM:602849
Distal Monosomy 7Q36
Cleft palate, Hypoplasia of penis, Non-midline cleft lip, Symphalangism affecting the phalanges o... ORPHA:1636
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Hip dysplasia, Capitate-hamate fusion, Short metacarpal, Cleft palate, I... OMIM:614078
Joubert Syndrome 10
Deep philtrum, Postaxial polydactyly, Thick vermilion border OMIM:300804
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Proximal tubulopathy, Hepatic failure OMIM:602579
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Cleft palate, Cleft upper lip, Renal agenesis OMIM:601076
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humerus, Cleft palate, ... ORPHA:1794
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Abnormal renal morphology, Short distal phalanx of finger, Anteriorly placed anus, Abnormal rectu... OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Dental crowding, Downturned corners of mouth, Long philtrum, Smooth philtr... OMIM:615761
Mckusick-Kaufman Syndrome
Hydronephrosis, High palate, Anal atresia, Postaxial foot polydactyly, Urogenital sinus anomaly, ... ORPHA:2473
Trisomy 17P
Macroglossia, Polycystic kidney dysplasia, Hydronephrosis, High palate, Hypoplasia of penis, Clef... ORPHA:261290
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Abnormality of the alveolar ridges, Cone-shaped epiphyses of phalange... OMIM:225500
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Deep philtrum, Rocker bottom foot, Tented upper lip vermilion, Hypotelorism, Bilater... OMIM:618622
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multipl... OMIM:137920
Pierpont Syndrome
Short finger, Brachycephaly, Excessive wrinkling of palmar skin, Deep palmar crease, Microphthalm... ORPHA:487825
Aarskog-Scott Syndrome
Broad philtrum, Syndactyly, Cleft palate, Brachydactyly, Short 5th finger, Hypodontia, Broad palm... OMIM:305400
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... ORPHA:2756
Verheij Syndrome
Hip dislocation, Renal cyst, Cleft palate, Long philtrum, Short 5th finger, Clinodactyly, Thin up... OMIM:615583
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft lip, Cleft palate ORPHA:1072
Caroli Disease
Cholangitis, Polycystic kidney dysplasia, Jaundice, Liver abscess, Intrahepatic cholestasis, Chol... ORPHA:53035
Branchio-Oculo-Facial Syndrome
Hydronephrosis, High palate, Tooth agenesis, Upper lip pit, Deep philtrum, Microdontia, Everted l... ORPHA:1297
Jackson-Weiss Syndrome
Broad metatarsal, Craniosynostosis, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis... OMIM:123150
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Unsteady gait, Decreased nerve conduction velocity, Hearing impairment, Abnorma... OMIM:601455
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Trisomy 9P
Deeply set eye, Dental crowding, Brachydactyly, Clinodactyly of the 5th finger, Downturned corner... ORPHA:236
Al-Gazali-Bakalinova Syndrome
Polydactyly, Flattened epiphysis, Tapered finger, Triangular mouth, Clinodactyly, Epiphyseal dysp... OMIM:607131
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... OMIM:617102
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Intrauterine growth retardation, Microphthalmia, Short palm, Fronta... ORPHA:163966
Mohr-Tranebjaerg Syndrome
Inability to walk, Absent brainstem auditory responses, Attention deficit hyperactivity disorder,... ORPHA:52368
17Q12 Microduplication Syndrome
Polyhydramnios, Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Agenesis of permanent teeth, Polydactyly, Ankyloglossia, Cleft palat... OMIM:311200
Nager Syndrome
Abnormal palate morphology, Phocomelia, Unilateral renal agenesis, Aplasia/Hypoplasia of the thum... ORPHA:245
Combined Oxidative Phosphorylation Deficiency 11
Renal cyst, Renal insufficiency, Hepatomegaly, Renal dysplasia, Hepatic steatosis, Decreased live... OMIM:614922
Smith-Magenis Syndrome
Open mouth, Hand polydactyly, Abnormality of the ureter, Deeply set eye, Taurodontia, Renal hypop... ORPHA:819
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Plagiocephaly, Absent hand, Abnormality of the humerus, Short thumb, Phocomelia, Ar... ORPHA:2538
Pai Syndrome
Bifid uvula, Cleft palate, Abnormal oral frenulum morphology, Median cleft lip, Hypertelorism ORPHA:1993
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Roberts Syndrome
Polycystic kidney dysplasia, Proximal placement of thumb, Abnormality of the upper limb, Cleft pa... ORPHA:3103
Bartsocas-Papas Syndrome
Finger syndactyly, Renal hypoplasia/aplasia, Cleft palate, Narrow mouth, Toe syndactyly, Median c... ORPHA:1234
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Congenital Disorder Of Glycosylation, Type Iiw
Microscopic hematuria, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619525
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat... ORPHA:1856
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft palate, Cleft upper lip, Bifid uvula, Hypertelorism OMIM:300958
Summitt Syndrome
Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal... ORPHA:3210
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Deeply set eye, Cleft palate, Hypotelorism, Abnormal digit morphology, C... OMIM:268850
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal d... OMIM:200995
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... OMIM:603543
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Abnormality of fibula morphology, Brachycephaly, Genu varum, Finger synd... ORPHA:2633
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cholestasis, Hepatic fibrosis, Hepatomegaly, Nephronophthisis, Hepatic fa... OMIM:615630
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly, Thick lower lip vermilion OMIM:617120
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Hydroureter, Mesoaxial foot polydactyly, Cle... OMIM:146510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, High palate, Wide capital femoral epiphyses, Patellar hypoplasia, Cleft palate,... OMIM:147891
Pelger-Huet Anomaly
Median cleft palate, Abnormality of the dentition, Polydactyly, Short 4th metacarpal, Short 3rd m... OMIM:169400
Nabais Sa-De Vries Syndrome, Type 2
High palate, Bilateral cleft lip and palate, Deeply set eye, Tapered finger, Clinodactyly of the ... OMIM:618829
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia OMIM:618161
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... OMIM:232200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Talipes equinovarus OMIM:616171
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Polydactyly, Dental crowding, Upper limb asymmetry, Clinodactyly of the 5th finger ORPHA:231140
Diaphanospondylodysostosis
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Cystic renal d... OMIM:608022
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Flattened epiphysis, Flat acetabular roof, Coxa valga, Abnormality of the elbow, A... ORPHA:163649
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Elevated circulating aspartate amin... OMIM:608836
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Difficulty walking, Decreased motor nerve conduction velocity,... OMIM:601596
Bartsocas-Papas Syndrome 2
Microphthalmia, Prominent occiput, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Smal... OMIM:619339
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... OMIM:610805
Renal Hypoplasia, Bilateral
Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi... ORPHA:97362
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Brachycephaly, Postaxial polydactyly, Tapered finger, Midface retrusion, Broad thu... OMIM:619721
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Calvarial skull defect, Coronal craniosynostosis, Brachycephaly, Intrauterine grow... ORPHA:228390
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif... OMIM:311300
Harrod Syndrome
High palate, Hypotelorism, Narrow mouth, Dental malocclusion, Abnormal pelvic girdle bone morphol... ORPHA:2115
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... OMIM:232220
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal cyst, Heavy proteinuria, Nephrotic syndrome, Renal tubular ac... ORPHA:255249
Prune Belly Syndrome
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Abnormality of the... ORPHA:2970
Achondrogenesis, Type Ii
Brachycephaly, Abnormally large globe, Edema, Hydrops fetalis, Polyhydramnios, Broad long bones, ... OMIM:200610
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Horseshoe kidney, Thenar muscle atrophy, Crossed fused renal ectopia... ORPHA:2213
Intellectual Developmental Disorder, Autosomal Dominant 36
Open mouth, Hip dysplasia, Postaxial polydactyly, Unilateral renal agenesis, Tented upper lip ver... OMIM:616362
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Polydactyl... ORPHA:1505
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy OMIM:616733
Joubert Syndrome 14
Open mouth, Renal cyst, Postaxial polydactyly, Deeply set eye, Cleft palate, Tented upper lip ver... OMIM:614424
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Median cleft palate, Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial f... OMIM:119800
Tarp Syndrome
Hydronephrosis, High palate, Bilateral talipes equinovarus, Postaxial polydactyly, Horseshoe kidn... OMIM:311900
Oligomeganephronia
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... ORPHA:2260
Fryns Syndrome
Hydronephrosis, High palate, Anal atresia, Intestinal malrotation, Short distal phalanx of finger... ORPHA:2059
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Proteinuria, High palate, Aplasia/Hypoplasia of the radius, Renal insufficiency, Ab... ORPHA:1307
Cerebrooculonasal Syndrome
Craniosynostosis, Encephalocele, Brachycephaly, Postaxial polydactyly, Optic nerve hypoplasia, Pr... OMIM:605627
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
17Q12 Microdeletion Syndrome
Cryptorchidism, Renal insufficiency, Renal hypoplasia/aplasia, Elevated hepatic transaminase, Pan... ORPHA:261265
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Hyperoxaluria OMIM:601539
Cofs Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia ORPHA:1466
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Hypoplastic ischia, Polydactyly, Hypertelorism OMIM:616910
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert... ORPHA:567983
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Septooptic Dysplasia
Short finger, Polydactyly, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, EEG with persistent abnormal rhythmic activity, Ataxia, Difficulty walking, Los... ORPHA:206443
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Renal insufficiency, Syndactyly, ... OMIM:615986
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact... ORPHA:2751
Abcd Syndrome