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Gene: Rbbp4 MGI:1194912

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Gene Summary

Name:
retinoblastoma binding protein 4, chromatin remodeling factor
Synonyms:
CAF-1 p48 subunit,  RBAP48

Order Alleles

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
preweaning lethality, complete penetrance Rbbp4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Rbbp4em1(IMPC)Mbp HET Late adult 0.00
microcephaly Rbbp4em1(IMPC)Mbp HET E15.5 0.00
increased bone mineral content Rbbp4em1(IMPC)Mbp HET Early adult 2.32×10-06
abnormal retina morphology Rbbp4em1(IMPC)Mbp HET   Late adult 1.05×10-05
embryonic lethality prior to organogenesis Rbbp4em1(IMPC)Mbp HOM   E9.5 0.00
abnormal gallbladder morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
enlarged kidney Rbbp4em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Rbbp4em1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
hemorrhage Rbbp4em1(IMPC)Mbp HET E15.5 0.00
spina bifida Rbbp4em1(IMPC)Mbp HET E15.5 0.00
small liver Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
prenatal lethality prior to heart atrial septation Rbbp4em1(IMPC)Mbp HOM   E15.5 0.00
abnormal eye morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
microphthalmia Rbbp4em1(IMPC)Mbp HET E15.5 0.00
polydactyly Rbbp4em1(IMPC)Mbp HET E15.5 0.00
syndactyly Rbbp4em1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
decreased exploration in new environment Rbbp4em1(IMPC)Mbp HET Early adult 6.15×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Rbbp4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rbbp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly OMIM:233270
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... ORPHA:3246
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... OMIM:174200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu... OMIM:619902
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Gallbladder Disease 1
Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co... OMIM:600803
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... OMIM:613885
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mmep Syndrome
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis OMIM:300752
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia ORPHA:291
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:210500
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... OMIM:600384
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:616570
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... OMIM:164180
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... OMIM:615771
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Frontal Encephalocele
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... OMIM:211960
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... ORPHA:139471
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... ORPHA:3265
Microcephaly-Cardiomyopathy
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... ORPHA:3268
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... ORPHA:1528
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... ORPHA:380
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger ORPHA:238446
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live... ORPHA:69663
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Microcytic anemia, Cholelithiasis ORPHA:79278
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy, Target cel... OMIM:603903
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... OMIM:603194
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... OMIM:615665
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... OMIM:611134
Retinitis Pigmentosa 89
Retinal thinning, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ... OMIM:618955
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Microphthalmia ORPHA:141333
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:218670
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... OMIM:606744
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... OMIM:613155
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... ORPHA:2839
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... OMIM:617255
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... ORPHA:2189
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... OMIM:182230
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Schisis Association
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida ORPHA:63862
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Bardet-Biedl Syndrome 22
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly OMIM:617119
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... ORPHA:1327
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... OMIM:616171
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia OMIM:614830
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... ORPHA:1553
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2117
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Temtamy Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... ORPHA:1777
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... OMIM:300863
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... OMIM:136760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly ORPHA:324416
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Sandhoff Disease
Splenomegaly, Hepatomegaly, Cherry red spot of the macula ORPHA:796
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... OMIM:175700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Microphthalmia, Syndromic 8
Microcephaly, Microphthalmia, Split foot OMIM:601349
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Braddock-Carey Syndrome 2
Microcephaly, Microphthalmia, Clinodactyly OMIM:619981
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Nanophthalmos
Microphthalmia ORPHA:35612
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Walker-Warburg Syndrome
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... ORPHA:899
Cofs Syndrome
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of... ORPHA:1466
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
17Q12 Microduplication Syndrome
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly ORPHA:261272
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Hypomelanosis Of Ito
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... OMIM:300337
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg... OMIM:607616
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... OMIM:169550
Trisomy 1Q
Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl... ORPHA:261344
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... OMIM:614814
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... OMIM:300887
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Broad palm, Macrocephaly, Spina bifida OMIM:620439
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom... OMIM:613313
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa... OMIM:619091
Fountain Syndrome
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co... ORPHA:3219
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... OMIM:600118
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb OMIM:617244
Sialuria
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepatosplenomegaly, Cholel... ORPHA:3166
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly OMIM:615877
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis... OMIM:608022
Curry-Jones Syndrome
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... OMIM:601707
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Aminopterin Syndrome Sine Aminopterin
Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Solitary Median Maxillary Central Incisor
Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ... OMIM:251270
Mirizzi Syndrome
Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ... ORPHA:521219
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... OMIM:616038
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... OMIM:615181
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... OMIM:607361
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... ORPHA:163966
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Pierpont Syndrome
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... ORPHA:487825
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep... OMIM:603387
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda... OMIM:300049
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... ORPHA:3378
Joubert Syndrome 16
Polydactyly, Dandy-Walker malformation, Encephalocele OMIM:614465
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s... OMIM:619694
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,... ORPHA:158029
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... OMIM:613153
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... OMIM:232200
Moebius Syndrome
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... OMIM:157900
Summitt Syndrome
Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl... ORPHA:3210
Adams-Oliver Syndrome 2
Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ... OMIM:614219
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short p... OMIM:602342
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger ORPHA:376
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:77298
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... ORPHA:93267
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Joint contracture of the 5th finge... OMIM:618914
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ... OMIM:613776
Nail-Patella Syndrome
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... OMIM:161200
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... OMIM:232220
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde... OMIM:615710
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration, Cholelithiasis OMIM:620646
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis, Retinal dystrophy OMIM:619273
Grange Syndrome
Short palm, Hypertension, Aortic regurgitation, Syndactyly ORPHA:79094
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile... OMIM:619662
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... OMIM:610758
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast... ORPHA:2092
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Elevated c... OMIM:276700
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy... OMIM:607131
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Perifoveal ring of hypera... OMIM:240300
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Cognitive impairment, Biliary hyperplasia, Splenomegaly, Abnormal i... ORPHA:731
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M... OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T... OMIM:615249
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma... ORPHA:2538
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Microph... ORPHA:508498
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform... ORPHA:99776
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis... OMIM:614815
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... ORPHA:564
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc... OMIM:109400
Monosomy 5P
Microcephaly, Finger syndactyly, Small hand ORPHA:281
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Macrocephaly, Encephalocele, Anophthalmia, Cerebellar vermis h... OMIM:605627
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha... OMIM:617102
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Adams-Oliver Syndrome
Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo... ORPHA:974
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, Camp... OMIM:614175
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis ... OMIM:614424
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Progressive psychomotor deterioration, Macroscopic hematuria, Proteinuria, Membr... ORPHA:251004
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Craniosynostosis, Hepatic fibrosis, Pancreatic fibros... OMIM:200995
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Diabetic Embryopathy
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp... ORPHA:1926
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Microcephaly,... OMIM:251230
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... ORPHA:88630
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Congenital Toxoplasmosis
Microcephaly, Cerebral calcification, Microphthalmia, Hydrocephalus ORPHA:858
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal... ORPHA:1393
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Orofaciodigital Syndrome Iv
Cerebral atrophy, Short finger, Porencephalic cyst, Foot polydactyly, Postaxial polydactyly, Hand... OMIM:258860
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly OMIM:617767
Trisomy 18
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... ORPHA:3380
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar... ORPHA:1101
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand ORPHA:2547
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Macrocephaly, Hydrocephalus, Polymicrogyria, Finger syndactyly, Cerebral ischemia, Foot polydacty... ORPHA:60040
Iniencephaly
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W... ORPHA:63259
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Cerebrooculofacioskeletal Syndrome 2
Microcephaly, Camptodactyly of finger, Microphthalmia, Rocker bottom foot OMIM:610756
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis ORPHA:171876
Bresek Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly ORPHA:85284
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Vacterl With Hydrocephalus
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina... ORPHA:3412
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ... ORPHA:48431
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand OMIM:619339
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Microcephaly, Polydactyly, Hypoplastic ischia OMIM:616910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph... OMIM:618142
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Relative macrocephaly, Clinodactyly of the 5th finger ORPHA:231140
Temtamy Syndrome
Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ... OMIM:218340
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Primary microcephaly, Clinodactyl... OMIM:256520
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Syringomyelia, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
20P13 Microdeletion Syndrome
Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly ORPHA:313781
Temtamy Preaxial Brachydactyly Syndrome
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... ORPHA:363417
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Bardet-Biedl Syndrome 19
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po... OMIM:615996
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot... OMIM:618804
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros... OMIM:617303
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical... OMIM:305600
Holoprosencephaly
Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand... ORPHA:2162
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... OMIM:617926
Mosaic Trisomy 1
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th... ORPHA:1692
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,... OMIM:614833
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep... ORPHA:370959
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia OMIM:613730
3P25.3 Microdeletion Syndrome
Microphthalmia, Proximal placement of thumb, Cerebral white matter atrophy, Pulmonic stenosis, Br... ORPHA:435638
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Ring Chromosome 21 Syndrome
Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
3Q29 Microduplication Syndrome
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac... ORPHA:251038
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure OMIM:614886
Martsolf Syndrome 1
Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ... OMIM:212720
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation OMIM:600151
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Rhombencephalosynapsis
Polydactyly, Macrocephaly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx... ORPHA:59315
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... ORPHA:93258
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Monosomy 18P
Microphthalmia, Hypertension, Microcephaly, Holoprosencephaly, Brachydactyly ORPHA:1598
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Abnormality of the palmar creases, Microphthalmia, Tricuspid regurgitation OMIM:618652
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Joubert Syndrome 7
Genu valgum, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand polydactyly, Post... OMIM:611560
Craniofrontonasal Dysplasia
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,... ORPHA:1520
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Postaxial polydactyly, Broad hall... OMIM:616362
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Warburg Micro Syndrome 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ... OMIM:614225
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Increased hepati... ORPHA:79259
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Bilateral microphthalmos, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... ORPHA:392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Baraitser-Winter Syndrome 2
Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Distal Duplication 5Q
Cryptorchidism, Chorioretinal coloboma, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Adducted thumb, Macrocephaly, Microphthalmia, Encephalocele, L... OMIM:614643
Frontorhiny
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Peric... ORPHA:391474
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... ORPHA:85167
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Sialidosis Type 2
Abnormal macular morphology, Hepatomegaly, Splenomegaly, Ascites ORPHA:87876
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr... OMIM:619879
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh... ORPHA:2994
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly OMIM:602361
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... OMIM:619135
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Congenital Rubella Syndrome
Microcephaly, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology ORPHA:290
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa ... OMIM:620601
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... OMIM:252100
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... OMIM:617914
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Prominent fingertip pads, Microcephaly... OMIM:619721
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple renal cys... ORPHA:464329
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Weaver Syndrome
Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Broad thumb, Camptod... ORPHA:3447
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Fanconi Anemia, Complementation Group S
Microcephaly, Clinodactyly, Microphthalmia, Proximal placement of thumb OMIM:617883
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Single transverse palmar c... OMIM:619148
Hallermann-Streiff Syndrome
Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Pulmonary arterial hype... OMIM:234100
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad... OMIM:613684
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Broad thumb, Foot po... ORPHA:250989
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho... ORPHA:175
Microphthalmia, Syndromic 2
Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sanda... OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly OMIM:619092
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang... OMIM:607597
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand OMIM:603543
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Babesiosis
Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai... ORPHA:108
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... ORPHA:251014
Campomelic Dysplasia
Dislocated radial head, Hypoplastic iliac wing, Relative macrocephaly, Femoral bowing, Short long... OMIM:114290
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder... ORPHA:449395
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo... OMIM:263700
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Microphthalmia OMIM:308350
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Fanconi Anemia
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... ORPHA:84
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Microphthalmia, Inferior cerebellar vermis hypoplasia, Clin... OMIM:607932
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand ... OMIM:264480
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microphthalmia, Thin corpus callosum, Single transverse palmar... OMIM:614105
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m... OMIM:617306
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613489
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Splenic cyst OMIM:618188
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... ORPHA:163649
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Gm1-Gangliosidosis, Type Iii
Splenomegaly, Hepatomegaly, Cherry red spot of the macula OMIM:230650
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Hepatic fibrosis, Splenomegaly, Retinal degeneration, Hepatic failure OMIM:615630
Trisomy 20P
Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac... ORPHA:261318
Neu-Laxova Syndrome
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... ORPHA:2671
Heart And Brain Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Microphthalmia, Cerebe... OMIM:616920
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Camptodactyly, Hip dysplasia, Cerebellar hypop... OMIM:611961
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly,... ORPHA:397590
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Short 3rd metacarpal, Um... OMIM:169400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Ring Chromosome 10 Syndrome
Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Microphthalmia, Postaxial polydactyly, Hypoplasia of the corpus cal... OMIM:619185
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Microphthalmia, Brachydactyly OMIM:614526
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Oculofaciocardiodental Syndrome
Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s... ORPHA:2712
Farber Lipogranulomatosis
Lipogranulomatosis, Splenomegaly, Hepatomegaly, Cherry red spot of the macula OMIM:228000
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial... OMIM:277170
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications ORPHA:90322
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Encephalocele, Hypoplastic acetabulae, S... OMIM:134780
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma, Hepatic fibrosis, Bile duct proliferation OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Cerebellar vermis hypoplasia, Ce... OMIM:616538
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... OMIM:615994
Filippi Syndrome
Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous... OMIM:272440
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Overlapping fingers, Microphthalmia, Cavum s... ORPHA:464738
Aicardi Syndrome
Microphthalmia, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypoplasi... OMIM:304050
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Congenital Fibrinogen Deficiency
Tachycardia, Microphthalmia, Internal hemorrhage, Clubbing of fingers ORPHA:335
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Arrhythmia ORPHA:3191
Senior-Loken Syndrome 8
Retinal dystrophy, Intrahepatic bile duct dilatation, Hepatic cysts, Rod-cone dystrophy, Pancreat... OMIM:616307
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea... ORPHA:959
Marden-Walker Syndrome
Microphthalmia, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptodactyly, ... OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis OMIM:300534
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... OMIM:147750
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Absent thumb, Sho... OMIM:609053
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Baraitser-Winter Syndrome 1
Microphthalmia, Microcephaly, Aortic valve stenosis, Duplication of phalanx of hallux, Pachygyria... OMIM:243310
Jacobsen Syndrome
Cerebral atrophy, Macrocephaly, Finger syndactyly, Spina bifida, Aortic valve stenosis, Toe clino... ORPHA:2308
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ... OMIM:615503
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Relative macrocephaly, Hypoplastic ilia, Micromelia, Postaxial polydact... OMIM:617895
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... OMIM:618494
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs... ORPHA:480520
Myoclonic-Astatic Epilepsy
Microcephaly, Microphthalmia, Syndactyly ORPHA:1942
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... OMIM:304120
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... OMIM:217085
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alanine... OMIM:607330
Holoprosencephaly 9
Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydro... OMIM:610829
Pallister-Hall Syndrome
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Microphthalmia, Y-shaped ... OMIM:146510
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Alg9-Cdg
Irritability, Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Periportal fibrosis, Abn... ORPHA:79328
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Microcephaly, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism OMIM:617660
Acrofrontofacionasal Dysostosis 2
Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly OMIM:239710
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Splenic infarction, Retinopathy, S... ORPHA:355
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... ORPHA:93929
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... OMIM:101600
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia OMIM:257910
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ... OMIM:618268
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... OMIM:617866
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Microcephaly, Aplasia/Hypoplasia ... ORPHA:2714
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Roberts Syndrome
Bilateral single transverse palmar creases, Hypoplasia of the radius, Microphthalmia, Radial devi... ORPHA:3103
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Triploidy
Macrocephaly, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye... ORPHA:3376
H Syndrome
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis, Osteolysis ORPHA:168569
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic disc pallor OMIM:213700
Adams-Oliver Syndrome 1
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Encephalocele, P... OMIM:100300
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... OMIM:620663
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
Chromosome 3Pter-P25 Deletion Syndrome
Microcephaly, Postaxial polydactyly, Overlapping toe, Tapered finger, Macular hypoplasia OMIM:613792
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... OMIM:608940
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcep... OMIM:206900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur ORPHA:2728
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Sin... OMIM:616449
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy OMIM:230800
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... OMIM:619451
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly ORPHA:2377
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Sandal gap, Microcephaly, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cer... OMIM:612530
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Polymicr... OMIM:244300
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Microphthalmia, Microcephaly, Upper limb asymmetry, Umbilical hernia ORPHA:2505
Warburg Micro Syndrome 3
Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5t... OMIM:614222
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... OMIM:612651
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi... OMIM:616300
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... OMIM:609638
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cherry red s... OMIM:256550
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Syngap1-Related Developmental And Epileptic Encephalopathy
Microcephaly, Postaxial polydactyly ORPHA:544254
Refsum Disease
Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morp... ORPHA:773
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... OMIM:614091
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Monosomy 13Q14
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl... ORPHA:1587
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Microphthalmia, Lenz Type
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... ORPHA:568
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Relative macrocepha... OMIM:615777
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Phakomatosis Pigmentokeratotica
Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida ORPHA:2874
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ... OMIM:600987
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Congenital Sialidosis Type 2
Polydactyly, Macrocephaly, Hydrocephalus, Hypoplasia of the fovea, Umbilical hernia, Abnormal EKG... ORPHA:93400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Macrocephaly, Joint contracture of the 5th finger, Single transverse palmar creas... OMIM:620098
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Aplasia/Hypoplasia of the th... OMIM:219000
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact... OMIM:272950
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly OMIM:618727
Hoxha-Aliu Syndrome
Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing... OMIM:620662
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad... OMIM:212780
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Relative mac... OMIM:300963
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
9Q21.13 Microdeletion Syndrome
Polydactyly, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia ORPHA:531151
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypo... OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Stromme Syndrome
Preaxial polydactyly, Microphthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydro... OMIM:243605
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta ORPHA:2475
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Short palm, Short foot, Small hand OMIM:241410
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Microcephaly, ... ORPHA:435938
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly ORPHA:73246
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Microcephaly, Brachydactyly, Clinodactyly OMIM:618950
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Microcephaly, Vitreous hemorrhage, Retinal neovasculariza... ORPHA:891
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Adducted thumb, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Over... OMIM:617822
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Papilledema, Hepatosplenomegaly, Splenomegaly, Abnormality ... ORPHA:2072
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Postax... ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, P... OMIM:613150
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple... OMIM:606003
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Neural tube defect, Clinodactyly OMIM:119580
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Galloway-Mowat Syndrome 3
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypertension, Camptodactyly,... OMIM:617729
Cohen Syndrome
Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty... ORPHA:193
Vater/Vacterl Association
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet... OMIM:192350
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger OMIM:167730
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol... ORPHA:3224
Acrofacial Dysostosis, Catania Type
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... ORPHA:1786
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Mend Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ... ORPHA:401973
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Aarskog-Scott Syndrome
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa... ORPHA:915
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... ORPHA:3186
Joubert Syndrome 2
Microphthalmia, Macrocephaly, Encephalocele, Hydrocephalus, Abnormal corpus callosum morphology, ... OMIM:608091
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Acrootoocular Syndrome
Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Microcephaly, Prominent calcan... ORPHA:2980
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Hypertension, Microcephaly, Abnormal cerebral white matter morphology, Syndactyly,... ORPHA:2169
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas... OMIM:615636
Joubert Syndrome 27
Polydactyly OMIM:617120
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome... OMIM:216360
Nasopalpebral Lipoma-Coloboma Syndrome
Microcephaly, Microphthalmia, Clinodactyly of the 5th finger, Bilateral microphthalmos ORPHA:2399
Cockayne Syndrome Type 1
Hypertension, Basal ganglia calcification, Anophthalmia ORPHA:90321
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:79303
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
3Q29 Microdeletion Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Mi... ORPHA:65286
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, Cra... OMIM:252500
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly ORPHA:97297
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Finger syndactyly, Myelomeningocele, Microcephaly, W... ORPHA:2052
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C... ORPHA:369891
Steinfeld Syndrome
Absent gallbladder, Retinal coloboma OMIM:184705
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida, Microcephaly, Arrhythmia, Sudden cardiac death ORPHA:991
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly OMIM:618087
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ... ORPHA:505248
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Microcephaly, Long ... OMIM:156610
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... ORPHA:2334
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short... OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing... OMIM:257850
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro... OMIM:251880
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Meningocele, Hydrocephal... ORPHA:567
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort... OMIM:613001
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Tr... OMIM:608739
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Hypertension, Cardiomyopathy, Apl... ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Tricuspid regurgitation, Hypertrophic cardiomyopathy... ORPHA:2556
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Neurofibromatosis, Type I
Aqueductal stenosis, Macrocephaly, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial... OMIM:162200
Charge Syndrome
Polydactyly, Aqueductal stenosis, Microphthalmia, Abnormal tibia morphology, Clinodactyly of the ... ORPHA:138
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... OMIM:302960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... ORPHA:93259
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Koolen-De Vries Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... ORPHA:363958
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S... OMIM:311900
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb, 2-3 finger syn... OMIM:603467
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Finger ... ORPHA:1001
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodac... ORPHA:254346
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Incontinentia Pigmenti
Congestive heart failure, Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand ... ORPHA:464
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... ORPHA:90652
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... ORPHA:710
Galloway-Mowat Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Dand... OMIM:251300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia ORPHA:2250
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M... OMIM:614701
Short Stature With Microcephaly And Distinctive Facies
Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Syndactyly, Brachyd... OMIM:615789
Bartsocas-Papas Syndrome
Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t... ORPHA:1234
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowi... ORPHA:1005
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Optic neuropathy, Prolonged neonatal jaundice, Hypermyelinated ret... ORPHA:909
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver ORPHA:91138
Silver-Russell Syndrome 3
Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Small hand OMIM:616489
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macrocephaly, Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb OMIM:618874
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Biparietal narrowing, ... ORPHA:2754
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Holoprose... ORPHA:2166
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Microcephaly, Broad thumb, Camptodact... ORPHA:1236
Mend Syndrome
Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Aortic valve stenosis,... OMIM:300960
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis OMIM:615947
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Finger syndactyly, Congenital hip dislo... ORPHA:1647
Microphthalmia, Syndromic 9
Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia OMIM:601186
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia OMIM:149000
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo... OMIM:142900
Oliver Syndrome
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi... ORPHA:2920
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Hypoplasia of olfactory tract ORPHA:1791
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial hypertension, ... OMIM:614437
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... ORPHA:284160
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Postaxial polydactyly, Joint contracture o... OMIM:619562
Goldberg-Shprintzen Megacolon Syndrome
Microcephaly, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum ORPHA:66629
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys... ORPHA:397715
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis OMIM:238600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microcephaly, Microphthalmia, Simplified gyral pattern OMIM:152950
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Syndactyly OMIM:220210
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Spina bifida occulta, Meningocele, Finger syndactyly, Microcephaly, Camptodactyly o... ORPHA:2311
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasi... OMIM:616546
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Cerebral cortical atro... OMIM:615663
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Micromelia ORPHA:2145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocep... OMIM:236670
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Agenesis o... OMIM:300952
Congenital Disorder Of Glycosylation, Type Iil
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, M... OMIM:614576
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Myelomeningocele, Spina bifida OMIM:193500
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome... OMIM:600145
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb OMIM:610832
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Filippi Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... ORPHA:3255
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Cardiomyopathy, Microcephaly, Short palm, Syndactyly, Agenesis of co... OMIM:217980
Orofaciodigital Syndrome I
Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha... OMIM:311200
Fanconi Anemia, Complementation Group E
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... OMIM:600901
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, A... OMIM:614230
Atelis Syndrome 2
Microphthalmia, Single transverse palmar crease, Supravalvar pulmonary stenosis, Microcephaly, Pu... OMIM:620185
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hip dysplasia, Microphthalmia, Hypoplasia of the corpus callosum ORPHA:494344
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Kbg Syndrome
Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly ORPHA:2332
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... ORPHA:1454
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... ORPHA:158687
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont... ORPHA:468631
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly ORPHA:585
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Microcephaly, Aplasia of the 1s... OMIM:227646
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing... ORPHA:1323
Vitreoretinochoroidopathy
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization OMIM:193220
Miller-Dieker Lissencephaly Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Deep palmar crease, Clinodactyly of the 5th finge... OMIM:247200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Ag... ORPHA:3301
Hardikar Syndrome
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Elevated circulating he... OMIM:301068
Fetal Alcohol Syndrome
Microcephaly, Microphthalmia, Biparietal narrowing ORPHA:1915
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Rubinstein-Taybi Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo... ORPHA:783
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f... ORPHA:2008
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia OMIM:612379
Charge Syndrome
Hypoplasia of the ulna, Microphthalmia, Anophthalmia, Unilateral microphthalmos, Absent tibia, Ha... OMIM:214800
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Histiocytoid Cardiomyopathy
Congestive heart failure, Microphthalmia, Atrial flutter, Wolff-Parkinson-White syndrome, Hydroce... ORPHA:137675
Apert Syndrome
Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy... OMIM:101200
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Radial deviation of finger, Microphthalmia, Anencephaly,... OMIM:249000
Ogden Syndrome
Irritability, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Polycystic kidney dysp... OMIM:300855
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath... ORPHA:231214
Fanconi Anemia, Complementation Group A
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... OMIM:227650
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An... ORPHA:540
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Apl... OMIM:308050
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo... OMIM:605039
Chediak-Higashi Syndrome
Jaundice, Neutropenia, Hemophagocytosis, Hepatomegaly, Anemia, Lymphadenopathy, Leukopenia, Splen... OMIM:214500
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum ORPHA:268249
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Micro Syndrome
Microphthalmia, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Pachygyria... ORPHA:2510
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Progressive mi... OMIM:617527
Myhre Syndrome
Short finger, Microphthalmia, Radial deviation of finger, Macrocephaly, Hypoplastic iliac wing, 2... OMIM:139210
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Optic neuritis, Neutropenia in presen... ORPHA:436159
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum OMIM:234050
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Basal gangli... OMIM:127000
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, Umbilical hernia OMIM:616028
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Agene... ORPHA:306542
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he... ORPHA:264580
Monosomy 9Q22.3
Polydactyly, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calcification of falx cere... ORPHA:77301
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Helsmoortel-Van Der Aa Syndrome
Irritability, Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Attention d... OMIM:615873
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... ORPHA:83617
Xeroderma Pigmentosum, Complementation Group D
Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia OMIM:278730
Aarskog-Scott Syndrome
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... OMIM:305400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Macrocephaly, Slender long bone, Tibial bowing, Osteolytic defects of the distal ... OMIM:601812
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Clinodactyly of t... OMIM:180860
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Singl... OMIM:309801
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic ... OMIM:618329
Bardet-Biedl Syndrome 1
Radial deviation of finger, Macrocephaly, Hypertension, Postaxial hand polydactyly, Foot polydact... OMIM:209900
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand ORPHA:1787
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Thin corpus callosum, Tethered cord, Tapered finger, Spina bifida, Partial agenesis of the corpus... OMIM:619480
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Cranioectodermal Dysplasia 3
Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndacty... OMIM:614099
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microcephaly, Microphthalmia, Anophthalmia ORPHA:2526
Crane-Heise Syndrome
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Aplasia/Hypoplasia of the corp... ORPHA:1512
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Cantú Syndrome
Abnormal metaphysis morphology, Macrocephaly, Short hallux, Finger syndactyly, Hypertrophic cardi... ORPHA:1517
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, ... OMIM:151050
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Macrocephaly, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers OMIM:618316
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia OMIM:618571
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Kury-Isidor Syndrome
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... OMIM:619762
19Q13.11 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Microcephaly, Toe ... ORPHA:217346
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Fg Syndrome Type 1
Abnormal thumb morphology, Macrocephaly, Clinodactyly of the 2nd finger, Hydrocephalus, Optic ner... ORPHA:93932
Adnp Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Polydactyly, Focal white matter lesions, San... ORPHA:404448
Jacobsen Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Holopr... OMIM:147791
Ring Chromosome 12 Syndrome
Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly ORPHA:1439
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha... ORPHA:93260
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Proboscis Lateralis
Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp... ORPHA:141099
3C Syndrome
Macrocephaly, Abnormal hip bone morphology, Hydrocephalus, Dandy-Walker malformation, Finger synd... ORPHA:7
Branchiooculofacial Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch... OMIM:113620
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Biliary atresia OMIM:615272
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Finger syndactyly, Polymicrogyria, Broad thumb, Broad ... ORPHA:2211
Chromosome 13Q14 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve... OMIM:613884
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... ORPHA:2710
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Cri-Du-Chat Syndrome
Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc... OMIM:123450
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries ORPHA:508
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Micr... OMIM:210710
Bardet-Biedl Syndrome 12
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Cerebellar vermi... ORPHA:314679
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Microphthalmia, Pachygyria ORPHA:2328
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Retinal telangiectasia, Anemia, Cholelithiasis, Po... ORPHA:774
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C... OMIM:615895
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, M... OMIM:613451
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
8Q22.1 Microdeletion Syndrome
Microcephaly, Camptodactyly of finger, Finger syndactyly, Sandal gap ORPHA:178303
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... OMIM:268310
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Patellar hypoplasia, Encephalocele, Cavum septum pellucidum, T... OMIM:603671
Linear Nevus Sebaceus Syndrome
Microphthalmia, Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Biparietal... ORPHA:2612
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L... ORPHA:829
Hydrolethalus Syndrome 1
Microphthalmia, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergro... OMIM:236680
Digeorge Syndrome
Anemia, Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasia, Thrombocytopenia, Splen... OMIM:188400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Microcephaly, Aplasia of the distal... ORPHA:364577
Opitz-Kaveggia Syndrome
Postnatal macrocephaly, Radial deviation of finger, Hydrocephalus, Single transverse palmar creas... OMIM:305450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine... ORPHA:2255
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitat... ORPHA:464306
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hyp... ORPHA:457284
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Poland Syndrome
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi... ORPHA:2911
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Orofaciodigital Syndrome V
Sandal gap, Postaxial hand polydactyly, Microcephaly, Postaxial polydactyly, Agenesis of corpus c... OMIM:174300
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Tethered cord, Tricuspid regurgitation, Microcephaly, Postaxial pol... OMIM:618460
Fanconi Anemia, Complementation Group C
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... OMIM:227645
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T... OMIM:617591
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Alobar holop... OMIM:610828
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe... ORPHA:35173
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypertension, Retinal h... OMIM:609049
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thrombocytopenia, Cryptorchidism, Anemia ORPHA:163979
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly OMIM:614800
Ohdo Syndrome, X-Linked
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... OMIM:300895
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Microphthalmia, Syndromic 1
Microphthalmia, Radial deviation of finger, Anophthalmia, Short clavicles, Prominent fingertip pa... OMIM:309800
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Syndactyly OMIM:616430
Fucosidosis
Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio... OMIM:618280
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger ORPHA:246
Xeroderma Pigmentosum, Complementation Group B
Microcephaly, Microphthalmia, Basal ganglia calcification OMIM:610651
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Prolonged QT interval, Optic nerve hypoplasia, Pulmonary arterial h... OMIM:620029
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod... OMIM:260920
Rodrigues Blindness
Microphthalmia OMIM:268320
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries, Biliary tract neoplasm, Panc... ORPHA:2869
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Macrocephaly, Short 4th metacarpal, Hip subl... ORPHA:221120
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct proliferation, Retinal degenerati... OMIM:208500
Grange Syndrome
Renovascular hypertension, Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Hallermann-Streiff Syndrome
Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Cerebella... ORPHA:2108
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Dandy-Walker malformation, ... ORPHA:1052
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger OMIM:201180
Skin Creases, Congenital Symmetric Circumferential, 2
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac... OMIM:616734
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Momo Syndrome
Bilateral microphthalmos, Macrocephaly, Femoral bowing, Short sternum, Large hands, Congenital ps... ORPHA:2563
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen... ORPHA:1572
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... ORPHA:1112
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat... OMIM:300968
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Polymicrogyria, Syndactyly, Umbilical hernia OMIM:614520
X Small Rings
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe... ORPHA:96201
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv... OMIM:619297
Ring Chromosome 13 Syndrome
Retinoblastoma, Hypoplasia of the gallbladder, Abnormal retinal morphology ORPHA:96176
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br... ORPHA:503
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Hypertension, Micromelia, Broa... ORPHA:87
Hamamy Syndrome
Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl... OMIM:611174
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Two carpal ossification centers present a... OMIM:312870
Fryns Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Dandy-Walker malformation, Cerebral cortical atro... ORPHA:2059
Reynolds Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil... OMIM:613471
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, ... OMIM:616975
Neurocardiofaciodigital Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Cavum septum pellucidum, Cerebellar vermis hypopl... OMIM:619869
Constricting Bands, Congenital
Talipes equinovarus, Hand polydactyly, Syndactyly, Encephalocele OMIM:217100
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Bartsocas-Papas Syndrome 1
Microphthalmia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phala... OMIM:263650
Cockayne Syndrome B
Cerebral atrophy, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic ... OMIM:133540
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Bilateral talipes equinovarus, Absent thumb, Absent radius, Cerebe... OMIM:614083
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Abnormal mesentery morphology, Cryptorchidism ORPHA:2075
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Abnormal corpus callosum ... ORPHA:2886
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens... ORPHA:309854
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye ORPHA:91495
Trisomy 10P
Absent gallbladder ORPHA:171929
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Macrocephaly, Radial deviation of finger, Sandal gap, Tethered cord, Supravalva... OMIM:618164
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Legius Syndrome
Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial t... ORPHA:137605
Proteus Syndrome
Cranial hyperostosis, Enlarged kidney, Long penis, Hyperostosis, Calvarial hyperostosis, Enlarged... ORPHA:744
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Zttk Syndrome
Optic atrophy, Absent gallbladder OMIM:617140
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Rod-cone dy... OMIM:616084
Aicardi Syndrome
Microphthalmia, Polymicrogyria, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum... ORPHA:50
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5... OMIM:608670
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Dubowitz Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th... OMIM:223370
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Pulmonary arterial hypertension, Portal hypertension, Microcephaly, Hip dysplasia... OMIM:620005
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Splenomegaly OMIM:612301
Pallister-Hall Syndrome
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... ORPHA:672
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna... OMIM:148050
Trichothiodystrophy 1, Photosensitive
Microcephaly, Microphthalmia, Telangiectasia OMIM:601675
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Acrocallosal Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tape... OMIM:200990
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... ORPHA:989
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Mesom... OMIM:616894
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, T... OMIM:268400
Tetrasomy 9P
Abnormal chorioretinal morphology, Jaundice, Biliary atresia, Absent gallbladder, Cryptorchidism ORPHA:3310
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Bardet-Biedl Syndrome 20
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly OMIM:619471
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Multiple Pterygium-Malignant Hyperthermia Syndrome
Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod... ORPHA:2215
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Hydrocephalus, Congenital hip dislocation, Syndactyly, Umbilical hernia OMIM:104350
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Monosomy 9P
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Postaxia... ORPHA:261112
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplas... OMIM:620654
Choanal Atresia
Polydactyly ORPHA:137914
Diaphragmatic Hernia 4, With Cardiovascular Defects
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ... OMIM:620025
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, Lobar holopros... OMIM:615465
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Townes-Brocks Syndrome 1
Metatarsal synostosis, Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydroc... OMIM:107480
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxi... ORPHA:887
Witteveen-Kolk Syndrome
Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac... OMIM:613406
Smith-Lemli-Opitz Syndrome
Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t... ORPHA:818
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ... ORPHA:2750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Cerebral atrophy, Polydactyly, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomy... ORPHA:17
Fryns Syndrome
Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Dandy-Walker malformation, Singl... OMIM:229850
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Sple... OMIM:610717
Traboulsi Syndrome
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux OMIM:601552
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Phace Association
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia OMIM:606519
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Short 5th finger, Long t... ORPHA:508488
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcephaly, Microphthalmia OMIM:110100
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Tibial bowing, Microcephaly, Metaphyseal widening, Phthisis bulbi OMIM:259770
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular h... OMIM:203700
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal macrocephaly, Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening o... ORPHA:93325
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... OMIM:269500
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Au-Kline Syndrome
Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Lipomyelomeningo... OMIM:616580
Cat Eye Syndrome
Pulmonic stenosis, Microphthalmia, Absent radius, Umbilical hernia OMIM:115470
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia, Abnormal digit morpholog... ORPHA:95494
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Abnorma... ORPHA:1507
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ... OMIM:265000
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Bloom Syndrome
Clinodactyly of the 5th finger, Microcephaly, Facial telangiectasia in butterfly midface distribu... OMIM:210900
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati... OMIM:613610
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Branchial anom... OMIM:164210
Williams Syndrome
Cholelithiasis, Cardiomegaly, Polycystic ovaries, Cryptorchidism, Retinal arteriolar tortuosity ORPHA:904
Okamoto Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Syringomyelia, Abnormally large globe, Tethered c... ORPHA:2729
Holoprosencephaly 1
Microphthalmia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum... OMIM:236100
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Finger syndactyly, Microcephaly, Camptodactyly of finger, Symphalangism aff... ORPHA:2990
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone... OMIM:101400
Fraser Syndrome 2
Microphthalmia, Cutaneous syndactyly OMIM:617666
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar cr... OMIM:612474
Degcags Syndrome
Polydactyly, Microphthalmia, Genu valgum, Talipes equinovarus, Pulmonary arterial hypertension, M... OMIM:619488
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Cerebellar verm... OMIM:615948
Roberts-Sc Phocomelia Syndrome
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... OMIM:268300
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Macrocephaly, Abnormal metacarpal morphology, Hydrocephalus, Fing... ORPHA:2658
Faciocardiomelic Syndrome
Microcephaly, Polydactyly, Slender long bone, Hypoplastic pelvis OMIM:612731
Stolerman Neurodevelopmental Syndrome
Broad palm, Clinodactyly of the 5th finger, Syndactyly OMIM:618505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Buphthalmos, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, ... OMIM:253280
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Alkaptonuria
Black pigment gallstones, Hemolytic anemia, Methemoglobinemia ORPHA:56
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t... OMIM:263750
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the corpus callosum, Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aort... ORPHA:268261
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... ORPHA:794
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... OMIM:619525
Carpenter Syndrome 2
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... OMIM:614976
Simpson-Golabi-Behmel Syndrome
Macrocephaly, Prolonged QT interval, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn... ORPHA:373
Incontinentia Pigmenti
Microcephaly, Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage OMIM:308300
Trichothiodystrophy
Periventricular leukomalacia, Bilateral microphthalmos, Cerebral dysmyelination, Clubbing, Cardio... ORPHA:33364
Mckusick-Kaufman Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2473
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corp... ORPHA:42775
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly ORPHA:163681
Neuroocular Syndrome
Periventricular leukomalacia, Microphthalmia, Deep palmar crease, Clinodactyly of the 5th finger,... OMIM:619539
Fontaine Progeroid Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Deep palmar crease, Cerebellar vermis hypoplas... OMIM:612289
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Cardiomyopathy, Flat acetabular roof, Microcephaly, A... OMIM:216340
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Brachydactyly, Narrow joint sp... ORPHA:96182
Prader-Willi Syndrome
Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Syndact... OMIM:176270
Cockayne Syndrome Type 3
Microphthalmia, Increased blood pressure, Progressive microcephaly, Cerebral white matter atrophy... ORPHA:90324
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Absent gallbladder ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... ORPHA:353277
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism, Retinal coloboma OMIM:261540
Townes-Brocks Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Broad thumb, Toe... ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Cortical dysplasia, P... OMIM:175780
Monosomy 22
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic... ORPHA:96123
3Mc Syndrome 3
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis OMIM:248340
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla... OMIM:619991
Papillorenal Syndrome
Microphthalmia, Hypertension OMIM:120330
Renpenning Syndrome 1
Cerebral atrophy, Microphthalmia, Clinodactyly of the 5th finger, Camptodactyly, Microcephaly, Sy... OMIM:309500
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal optic nerve morphology, Ret... ORPHA:90340
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia OMIM:153400
Mosaic Trisomy 16
Large placenta, Single transverse palmar crease, Short forearm, Syndactyly, Short femoral neck, S... ORPHA:1708
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat... OMIM:613658
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida ORPHA:322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... ORPHA:352665
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Toe syndactyly, Finger syndactyly, Palmoplantar hyper... ORPHA:3253
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Cockayne Syndrome
Cerebral atrophy, Microphthalmia, Cerebral dysmyelination, Progressive microcephaly, Cerebral cal... ORPHA:191
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... OMIM:227330
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Polymicrogyria, Holoprosencepha... OMIM:618820
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Aplasia of the sweat glands, Splenomegaly OMIM:612132
Orofaciodigital Syndrome Type 4
Finger syndactyly, Subcortical cerebral atrophy, Postaxial hand polydactyly, Split hand, Micromel... ORPHA:2753
Robinow Syndrome
Macrocephaly, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the... ORPHA:97360
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Peritoneal abscess, Hypoplasia of the thymus, Abnormal ductus choled... ORPHA:436252
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Single transverse palmar crease, Branchial cyst, Pulmonary arterial hypertension,... OMIM:620186
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Dand... ORPHA:480880
Mckusick-Kaufman Syndrome
Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation OMIM:236700
Autosomal Dominant Robinow Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short pal... ORPHA:3107
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc... OMIM:309000
Adult Syndrome
Split foot, Toe syndactyly, Finger syndactyly ORPHA:978
Alstrom Syndrome
Polydactyly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:203800
Rapp-Hodgkin Syndrome
Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly OMIM:129400
Rabson-Mendenhall Syndrome
Polydactyly, Cardiomyopathy ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Adducted th... ORPHA:261537
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy... ORPHA:69085
Fraser Syndrome 3
Hydrocephalus, Cutaneous syndactyly, Short toe OMIM:617667
Mullegama-Klein-Martinez Syndrome
Microcephaly, Polydactyly, Clinodactyly of the 5th finger OMIM:301022
Loeys-Dietz Syndrome 2
Dural ectasia, Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arac... OMIM:610168
Tetraamelia Syndrome 1
Hydrocephalus, Microphthalmia, Hypoplastic pelvis OMIM:273395
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Corneal neovascularization, Abnormal thumb morphology, Finger syndactyl... ORPHA:2363
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Microcephaly, Holoprosence... OMIM:157170
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ... OMIM:181270
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Telangiectasia of the skin, ... ORPHA:1556
Eec Syndrome
Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr... ORPHA:1896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Ad... ORPHA:261552
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... OMIM:149730
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of... ORPHA:2907
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Aqueductal stenosis, Polydactyly, Bidirectional shunt, Aortic re... OMIM:619534
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Microphthalmia, Genu valgum, Umbilical hernia, Abnormal epiphysis... ORPHA:534
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Coffin-Siris Syndrome 12
Hip subluxation, Macrocephaly, Hippocampal atrophy, Slender finger, Microcephaly, Broad thumb, Ra... OMIM:619325
Autosomal Recessive Faciodigitogenital Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Brachydactyly, Down-sloping shoulders ORPHA:1974
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Toe... OMIM:620330
Mowat-Wilson Syndrome
Microphthalmia, Focal white matter lesions, Microcephaly, Pulmonic stenosis, Aortic valve stenosi... ORPHA:2152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyly ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... OMIM:150230
Wolf-Hirschhorn Syndrome
Optic atrophy, Abnormality of the gallbladder, Retinopathy, Cryptorchidism, Abdominal situs inversus ORPHA:280
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Short toe, Brachydactyly, Ar... ORPHA:1519
Loeys-Dietz Syndrome 1
Dural ectasia, Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, A... OMIM:609192
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Bardet-Biedl Syndrome
Finger syndactyly, Hypertension, Cardiomyopathy, Postaxial polydactyly, Syndactyly, Brachydactyly... ORPHA:110
Mowat-Wilson Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Aplasia/Hypoplasia of the cerebral white matte... OMIM:235730
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Microcephaly, Cerebral co... ORPHA:649
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Palmoplantar keratoderma, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:1071
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short... ORPHA:2908
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Pachygyria ORPHA:2136
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500

Histopathology

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

There is no histopathology data for Rbbp4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rbbp4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of RBBP4 results in defective inner cell mass, severe apoptosis, hyperacetylated histones and preimplantation lethality in mice†. Biology of reproduction (June 2020) Rbbp4em1(IMPC)Mbp 32285100

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rbbp4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rbbp4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Rbbp4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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