Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 E18.5 0.00
polydactyly Dzip1lem1(IMPC)J HOM E18.5 0.00
hyperactivity Dzip1lem1(IMPC)J HET Early adult 8.99×10-05
abnormal embryo size Dzip1lem1(IMPC)J HOM E18.5 0.00
polydactyly Dzip1lem1(IMPC)J HOM E15.5 0.00
anophthalmia Dzip1lem1(IMPC)J HOM E15.5 0.00
abnormal head shape Dzip1lem1(IMPC)J HOM E15.5 0.00
microphthalmia Dzip1lem1(IMPC)J HOM E15.5 0.00
edema Dzip1lem1(IMPC)J HOM E15.5 0.00
preweaning lethality, complete penetrance Dzip1lem1(IMPC)J HOM   Early adult 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 6.20×10-07
increased vertical activity Dzip1lem1(IMPC)J HET Early adult 2.36×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electroretinography 3

Fundus file

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

3 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Gross Morphology Embryo E18.5

Images

2 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

6 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Hearing impairment, Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:620038
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, Tu... OMIM:619902
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Hand polydactyly, Cleft palate, Renal hypoplasia OMIM:236110
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypertelorism, Multicystic kidney dysplasia ORPHA:3316
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Renal agenesis, Cleft palate, Upper limb p... ORPHA:294975
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy... ORPHA:3032
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Proptosis, Humeroradial ... OMIM:612961
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
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h... OMIM:267010
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent gallbla... OMIM:612284
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Irregular dentition, Cleft upper lip, Cleft lower lip, Diastema, Median cleft upp... ORPHA:401942
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation OMIM:610688
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Nephronophthisis 18
Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub... OMIM:615862
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Orofacial cleft, Large hands, Cleft upper lip ORPHA:85287
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Recurrent urinary tract infections, Limited elbow extension and s... OMIM:244600
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormality... OMIM:216100
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Deeply set eye, Hypertelori... OMIM:615984
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst OMIM:614870
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Syndactyly, Bra... OMIM:615982
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Glycosuria,... OMIM:614817
Developmental And Epileptic Encephalopathy 104
Hypsarrhythmia, Self-injurious behavior, Agitation, Hyperactivity OMIM:619970
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Hypertelorism, Median cleft uppe... OMIM:300484
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Intrauterine growth retardation, Edema, Talipes equinovarus OMIM:616570
Coach Syndrome 3
Nephronophthisis, Portal fibrosis, Renal interstitial inflammation, Renal tubular atrophy, Renal ... OMIM:619113
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Syngnathia
Cleft palate OMIM:119550
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Orofaciodigital Syndrome Type 5
Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, A... ORPHA:2919
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Urinary incontinence, Genu valgum, Short philtrum, Accessory oral frenulum,... OMIM:617927
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:239500
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease ORPHA:2924
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial ef... OMIM:613885
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease OMIM:600251
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... OMIM:206920
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft of the upper lip, Hypertelorism ORPHA:2007
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Intellectual Disability, Wolff Type
Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Non-midl... ORPHA:3080
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia ORPHA:140976
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Mmep Syndrome
Split foot, Orofacial cleft, Triphalangeal thumb, Median cleft upper lip ORPHA:3434
Nephronophthisis 15
Nephronophthisis, Elevated circulating hepatic transaminase concentration OMIM:614845
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Cholestasis, Nephr... ORPHA:85445
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep... OMIM:208500
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Cleft... ORPHA:971
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatiti... OMIM:145001
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Say Syndrome
Tapered finger, Cleft palate, Proximal renal tubular acidosis, Short distal phalanx of finger, Ul... OMIM:181180
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Unilateral cleft lip, Brachydactyly, Hypertelorism ORPHA:1919
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Abnorma... ORPHA:3181
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Ectopic kidney, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Cleft palate, S... OMIM:239800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Radial club hand, Proptosis, Cleft palate, Abnormal morphology of the radius, Renal ins... ORPHA:2165
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypopla... OMIM:617926
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney dis... ORPHA:3156
Carpenter Syndrome
Polydactyly, Genu valgum, Turricephaly, Craniosynostosis, Finger syndactyly, Cloverleaf skull, Po... ORPHA:65759
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypotelorism, Short philtrum, Slender finger, Cleft upper lip, Downturned corners of mouth, Smoot... OMIM:613192
Mpdu1-Cdg
Renal cortical cysts, Decreased response to growth hormone stimulation test ORPHA:79323
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology ORPHA:2432
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Joubert Syndrome 18
Bowing of the long bones, Renal cyst, Camptodactyly, Postaxial polydactyly, Cleft palate, Lobulat... OMIM:614815
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Hematuria OMIM:120433
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short distal phalanx o... OMIM:614091
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing... OMIM:249710
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hepa... OMIM:613550
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol... OMIM:252100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Cone-shap... OMIM:613091
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, T... ORPHA:84081
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Hypsarrhythmia, EEG with focal epileptiform discharges, Ataxia,... ORPHA:599373
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia, Hyperactivity OMIM:300928
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi... OMIM:216360
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypotelorism, Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobilit... OMIM:244200
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate, Hypospadias, Renal cyst OMIM:231060
Joubert Syndrome 20
Renal cyst OMIM:614970
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation OMIM:164180
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Microphthalmia, Syndromic 8
Orofacial cleft, Split foot, Cleft upper lip, Cleft palate, Widely-spaced maxillary central incisors OMIM:601349
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Polysyndactyly With Cardiac Malformation
Stillbirth, Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, ... OMIM:263630
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo... OMIM:616307
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism OMIM:613730
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft palate, Toe syn... OMIM:258865
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Micromelia ORPHA:291
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B... OMIM:261515
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Burn-Mckeown Syndrome
Thin vermilion border, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Narrow mout... OMIM:608572
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Elevated circulating hepatic transaminase concentration, Multiple renal... OMIM:614883
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachycephaly, Brachydactyly ORPHA:35099
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Meckel Syndrome, Type 10
Hypospadias, Postaxial hand polydactyly, Renal cyst, Camptodactyly, Postaxial polydactyly, Bifid ... OMIM:614175
Femoral-Facial Syndrome
Orofacial cleft, Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Preaxial foot ... ORPHA:1988
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Polyhydramnios, Abnormally large globe, Abnormal fibular epiphysis morph... ORPHA:96190
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Anal atresia, Neonatal death, ... OMIM:613390
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Ataxia, Hyperactivity, Aggressive behavior OMIM:620270
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Radioulnar synostosis, M... ORPHA:3270
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Hydrops fetalis, Anophthalmia, Postax... ORPHA:3378
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Cleft upper lip, Cleft palate, Bro... OMIM:600987
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Si... ORPHA:915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Po... OMIM:136760
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ... OMIM:618329
2Q24 Microdeletion Syndrome
Short philtrum, Abnormal oral frenulum morphology, Bullet-shaped distal phalanx of the hallux, Ha... ORPHA:1617
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Micromelia, Cleft palate, Postaxial foot polydactyly, Microglossia, R... OMIM:241800
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... OMIM:603278
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia ORPHA:2528
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Orofaciodigital Syndrome V
Aganglionic megacolon, Horseshoe kidney, Sandal gap, High palate, Postaxial hand polydactyly, Ank... OMIM:174300
Caroli Syndrome
Abnormality of the kidney, Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating he... ORPHA:480520
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr... OMIM:614416
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met... ORPHA:2631
Blepharocheilodontic Syndrome 1
Conical tooth, Anal atresia, Cleft upper lip, Hypertelorism, Hypodontia, Cutaneous syndactyly, Cl... OMIM:119580
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Brachycephaly, Tarsal syn... ORPHA:2633
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... OMIM:141400
C Syndrome
Renal cortical cysts, Hepatomegaly, Cryptorchidism OMIM:211750
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:616629
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Frontal bossing, Symphalangism affecting... ORPHA:2547
Odontochondrodysplasia 1
Nephronophthisis, Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Cone-shaped ep... OMIM:184260
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis ORPHA:1692
Zechi-Ceide Syndrome
Short metatarsal, Sandal gap, Oligodontia, Cleft upper lip, Cleft palate, Short distal phalanx of... OMIM:612916
Cerebrooculonasal Syndrome
Brachycephaly, Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Triphalangeal thumb, Gingival overgrow... OMIM:220500
Lennox-Gastaut Syndrome
Falls, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe... OMIM:619736
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, IgA depositio... OMIM:616730
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Postaxial hand polydactyly, Micromelia ORPHA:2189
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di... OMIM:200990
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon, Postaxial hand polydactyly, Renal agenesis, Foot polydactyly, Hypertelorism ORPHA:2155
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Anophthalmia, Increased nuchal translucency, Arachnodactyly, Cam... ORPHA:261344
Hyperbiliverdinemia
Decreased liver function, Green urine, Cholestasis, Cholelithiasis OMIM:614156
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intrahepatic ... ORPHA:731
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput, Bradycardia ORPHA:2898
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Cloverle... ORPHA:93267
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal bossing, Craniosynostosis, Frontal encephalocele ORPHA:1528
Nanophthalmos
Microphthalmia ORPHA:35612
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Hypertelorism, Median cleft upper lip OMIM:155145
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcan... OMIM:300863
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG ab... OMIM:618718
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia... OMIM:614866
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Acrofrontofacionasal Dysostosis
Hypospadias, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Microm... ORPHA:1784
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder mor... ORPHA:1350
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Cleft palate, Large hands, Cleft lip OMIM:300263
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Interictal EEG abnormality, EEG with frontal f... ORPHA:98818
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior OMIM:300983
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Joubert Syndrome 22
Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Intrauterine growth retardation, ... OMIM:615665
Verloove Vanhorick-Brubakk Syndrome
Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Muenke Syndrome
Brachycephaly, Capitate-hamate fusion, Plagiocephaly, Radial deviation of finger, Cone-shaped epi... OMIM:602849
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Dolichocephaly, Short toe, Brachydactyly, Genu varum ORPHA:1777
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Polycystic kidney dysplasia, Single transverse palmar crease,... OMIM:617866
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Cleft upper lip, Foot oligodactyly, Short femur, Bilateral... OMIM:601357
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Summitt Syndrome
Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Culler-Jones Syndrome
Hypotelorism, Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis OMIM:615849
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia, Short thumb OMIM:609054
Curry-Jones Syndrome
Microphthalmia, Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality o... ORPHA:1553
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hypo... OMIM:612651
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicouret... ORPHA:1166
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multiple... OMIM:613095
Chromosome 1Q41-Q42 Deletion Syndrome
Widely spaced teeth, Hypotelorism, Short philtrum, Sandal gap, High palate, Cleft upper lip, Clef... OMIM:612530
Distal Deletion 10P
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:1580
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, En... OMIM:619980
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Aplasia/Hypoplasia of the radius, Intrauterine growth ... ORPHA:2117
Nanophthalmos 4
Microphthalmia OMIM:615972
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Renal co... OMIM:214100
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Brachydactyly, Deepl... ORPHA:313781
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Hypospadias, Renal insufficiency, Renal ... ORPHA:397715
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Craniosynostosis OMIM:218670
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... ORPHA:2511
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Camptodactyly of finger,... ORPHA:1794
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:203700
Xk Aprosencephaly Syndrome
Polyhydramnios, Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Penoscrotal hypospadias, Cleft upper lip, Clinodactyly, Clef... OMIM:248340
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio... OMIM:600740
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Hypoplastic pelvis, Fibular ... OMIM:616300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Dolichoc... ORPHA:1101
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, High palate, Bilateral talipes equinovarus, Post... OMIM:618142
Trisomy 8Q
Orofacial cleft, Deep palmar crease, Hypoplasia of penis, Non-midline cleft of the upper lip, Hig... ORPHA:1752
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hypertelorism OMIM:235740
Jeune Syndrome
Abnormality of the liver, Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Acrocardiofacial Syndrome
Hypospadias, Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Split hand, ... ORPHA:2008
Achondrogenesis, Type Ii
Short tubular bones of the hand, Brachycephaly, Hydrops fetalis, Polyhydramnios, Abnormally large... OMIM:200610
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, ... OMIM:236500
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Renal cortical microcy... OMIM:222470
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, EEG with generalized epileptiform discharges,... OMIM:619827
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Bardet-Biedl Syndrome 17
Polydactyly, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourt... OMIM:615994
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Galloway-Mowat Syndrome 7
Cubitus valgus, Minimal change glomerulonephritis, Hallux valgus, Single transverse palmar crease... OMIM:618348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturned ... OMIM:618950
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Cleft upper lip, Bifid uvula, Cleft palate, Short thumb, Hypertelorism OMIM:612561
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... OMIM:164745
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Frontal bossing, Synda... OMIM:600325
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Autosomal Recessive Amelia
Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia involving the up... ORPHA:1027
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Brachydactyly, Intrauteri... ORPHA:2145
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Nabais Sa-De Vries Syndrome, Type 2
Thin vermilion border, Clinodactyly of the 5th finger, Bilateral cleft palate, High palate, Taper... OMIM:618829
Non-Distal Duplication 10Q
Aplasia/Hypoplasia affecting the eye, Frontal bossing, Brachycephaly ORPHA:1695
Genitopalatocardiac Syndrome
Hypospadias, Non-midline cleft of the upper lip, Postaxial hand polydactyly, Downturned corners o... ORPHA:2075
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Metaphyseal cup... ORPHA:163966
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Short philtrum, Abnormal renal morphology, Delayed ossification of carpal ... OMIM:239300
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Smooth philtrum, Nephroblastoma, Hypertelorism OMIM:602501
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Triphalangeal thumb, Aplasia/Hy... ORPHA:2549
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Asplenia, Bile duct proliferation, Abnormality of ... OMIM:249000
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Hypospadias, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth,... ORPHA:544254
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Renal agenesis, Cleft upper lip, Cleft palate OMIM:601076
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphysis, Lip pit, T... ORPHA:2750
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Split hand, Camptodactyly, Renal hypoplasia, Cleft palate OMIM:246560
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Hypospadias, Sandal gap, Dental crowding, Postaxial polydactyly, ... OMIM:615761
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Renal hypoplasia/aplasia, Tarsal synostosis, Abnormal metacarpal morpholog... ORPHA:2473
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Ectrodactyly, Tooth agenesis, Cleft upper lip, Cleft palate, Micropenis, Clinodactyly OMIM:147950
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Single transverse palmar crease, Parietal foramina, 2-5 finger cutan... OMIM:601224
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis, Hepatic failure OMIM:602579
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Narrow mouth, Everted lower lip vermilion, Tapered finger, Short foot, Deeply set eye... OMIM:618089
Pierpont Syndrome
Brachycephaly, Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Excess... ORPHA:487825
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Trisomy 17P
Orofacial cleft, Clinodactyly of the 5th finger, Hypoplasia of penis, Polycystic kidney dysplasia... ORPHA:261290
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
High palate, Cleft palate, Open mouth, Overlapping toe, Hypertelorism OMIM:620021
Aarskog-Scott Syndrome
Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th finger, Single tra... OMIM:305400
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Ellis-Van Creveld Syndrome
Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic... OMIM:225500
Pierpont Syndrome
Brachycephaly, Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Short ... OMIM:602342
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Short philtrum, Abnormality of the uret... ORPHA:819
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating hepatic transaminase concentration, Multiple glom... OMIM:137920
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Orofaciodigital Syndrome I
Radial deviation of finger, Ovarian cyst, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridg... OMIM:311200
Verheij Syndrome
Renal cyst, Renal agenesis, Renal hypoplasia, Clinodactyly, Cleft palate, Long philtrum, Short 5t... OMIM:615583
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Lymphedema, Epiphyseal dysplasia, Frontal bossing, Clinodactyly, Flatte... OMIM:607131
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Non-midline cleft of the up... ORPHA:1770
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate, Hal... OMIM:216800
Bartsocas-Papas Syndrome
Renal hypoplasia/aplasia, Finger syndactyly, Narrow mouth, Aplasia/Hypoplasia of the distal phala... ORPHA:1234
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Microphthalmia, Polyhydramnios ORPHA:261272
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Microphthalmia, Abnormal metacarpal morphology, Anophthalmia, Abnormal finger morp... ORPHA:2538
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Hypertelorism, Bifid uvula, Cleft palate OMIM:300958