banner
Genes Phenotypes Help, News, Blog

Gene: Rbbp4 MGI:1194912

Log in to follow

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
prenatal lethality prior to heart atrial septation Rbbp4em1(IMPC)Mbp HOM   E15.5 0.00
abnormal gallbladder morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
spina bifida Rbbp4em1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Rbbp4em1(IMPC)Mbp HET E15.5 0.00
polydactyly Rbbp4em1(IMPC)Mbp HET E15.5 0.00
small liver Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
syndactyly Rbbp4em1(IMPC)Mbp HET E15.5 0.00
embryonic lethality prior to organogenesis Rbbp4em1(IMPC)Mbp HOM   E9.5 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
decreased exploration in new environment Rbbp4em1(IMPC)Mbp HET Early adult 4.47×10-06
hemorrhage Rbbp4em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Rbbp4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
microcephaly Rbbp4em1(IMPC)Mbp HET E15.5 0.00
abnormal retina morphology Rbbp4em1(IMPC)Mbp HET   Late adult 7.93×10-05
enlarged spleen Rbbp4em1(IMPC)Mbp HET Late adult 0.00
increased bone mineral content Rbbp4em1(IMPC)Mbp HET Early adult 4.46×10-06
enlarged kidney Rbbp4em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Rbbp4em1(IMPC)Mbp HET E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

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, Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Polymicrogyria, Hydrocephalus, Syndactyly, Megalencephaly, Thick corpus callosum, P... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Macrocephaly, Small thenar eminence, Aplasia/Hypoplasia of the di... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... OMIM:619902
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Brachydactyly, Type C
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... OMIM:113100
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Nevus Comedonicus Syndrome
Spina bifida, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Micr... ORPHA:64754
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol... OMIM:600803
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 8
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Microcephaly, Talipes equino... OMIM:613885
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... ORPHA:957
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Mmep Syndrome
Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot ORPHA:3434
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... OMIM:615382
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... OMIM:210500
Jawad Syndrome
Primary microcephaly, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finge... OMIM:251255
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Syndactyly, Microcephaly, Cutaneous finger syndactyly, Aplasia/H... OMIM:600384
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Age... OMIM:616570
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation, Micro... OMIM:164180
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... ORPHA:93109
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... OMIM:615771
Frontal Encephalocele
Encephalocele, Macrocephaly, Hydrocephalus, Spina bifida, Cerebral calcification, Aplasia/Hypopla... ORPHA:1931
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... ORPHA:65682
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... OMIM:211960
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Hepatomegaly, Intrahepatic cholestasis OMIM:605479
Brachydactyly, Type A2
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... OMIM:112600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal placement of thumb, F... ORPHA:139471
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Humero-Radial Synostosis
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcep... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... OMIM:610140
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... OMIM:211600
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Microcephaly-Cardiomyopathy
Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger OMIM:251220
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Microcephaly, Clinodactyly of... ORPHA:3268
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... ORPHA:69663
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... OMIM:615297
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Pre... ORPHA:380
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... ORPHA:1113
Tyrosinemia Type 1
Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly ORPHA:882
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Upper limb phocomelia ORPHA:294975
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... ORPHA:848
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Microcytic anemia, Cirrhosis, Decreased liver function ORPHA:79278
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... ORPHA:488232
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... OMIM:618167
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly OMIM:610023
15Q11Q13 Microduplication Syndrome
Macrocephaly, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microcephaly, Microphthalmia OMIM:614082
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro... ORPHA:1528
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:269600
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Cholelithiasis, Hepat... OMIM:603903
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... OMIM:603194
Craniotelencephalic Dysplasia
Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence... OMIM:218670
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... OMIM:611134
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Joubert Syndrome 22
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthal... OMIM:615665
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Splenomegaly OMIM:614480
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand ... OMIM:611561
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly ORPHA:141333
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Aa Amyloidosis
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... ORPHA:85445
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Retinal thinning, Micronodular cirrhosis, Hyperautofluoresc... OMIM:618955
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... OMIM:263200
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... OMIM:602347
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Long proximal phalanx of finger, Congenital hip dislocation, Slender distal ph... OMIM:603546
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Lissencephaly 8
Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Hypoplasia of the... OMIM:617255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Megalencephaly, Progressi... OMIM:602501
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... ORPHA:79301
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase OMIM:617068
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... ORPHA:231222
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevat... ORPHA:53035
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hemolytic anemia OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... OMIM:619658
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Prominent protruding coccyx, Bilateral microphthalmos, Hydranencephaly, ... ORPHA:2839
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal o... ORPHA:166024
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers... ORPHA:1617
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Abnormal left ventricula... OMIM:613155
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Seckel Syndrome 2
Microphthalmia, Microcephaly, Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger OMIM:606744
Septooptic Dysplasia
Short finger, Optic disc hypoplasia, Polydactyly, Absent septum pellucidum, Optic nerve hypoplasi... OMIM:182230
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Bardet-Biedl Syndrome 22
Macrocephaly, Postaxial foot polydactyly, Microcephaly, Polydactyly OMIM:617119
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert... ORPHA:567983
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina bifida, Scapular wi... ORPHA:1327
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... OMIM:208540
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot OMIM:616890
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Czeizel-Losonci Syndrome
2-3 finger syndactyly, 3-4 finger syndactyly, Hydrocephalus, Spina bifida, Myelomeningocele, Ectr... ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... OMIM:616171
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Curry-Jones Syndrome
Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Pre... ORPHA:1553
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... OMIM:225280
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microcephaly, Microphthalmia ORPHA:3469
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Portal ... OMIM:616278
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum... ORPHA:2117
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
Ceroid storage disease
Hepatic failure, Abnormality of the spleen OMIM:214200
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... OMIM:615415
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Macrocephaly at birth ORPHA:324416
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... OMIM:619868
Frontonasal Dysplasia 1
Pericallosal lipoma, Camptodactyly, Anterior basal encephalocele, Microphthalmia, Postaxial hand ... OMIM:136760
Temtamy Syndrome
Macrocephaly, Genu varum, Microphthalmia, Clinodactyly of the 5th finger, Short toe, Aplasia/Hypo... ORPHA:1777
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... ORPHA:730
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Carpenter Syndrome
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... ORPHA:65759
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Tricuspid... ORPHA:1120
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microcephaly, Microphthalmia, Cerebral atrophy OMIM:274270
Sandhoff Disease
Cherry red spot of the macula, Hepatomegaly, Splenomegaly ORPHA:796
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Isolated Biliary Atresia
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... ORPHA:30391
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Cirrho... OMIM:214900
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... ORPHA:370010
Microphthalmia, Syndromic 8
Microcephaly, Microphthalmia, Split foot OMIM:601349
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Braddock-Carey Syndrome 2
Clinodactyly, Microcephaly, Microphthalmia OMIM:619981
Walker-Warburg Syndrome
Macrocephaly, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Absent septu... ORPHA:899
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... ORPHA:79302
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Pigmentary retinopathy, Elevated hepatic transaminase, Giant cell hepa... ORPHA:79095
Nanophthalmos
Microphthalmia ORPHA:35612
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... ORPHA:1106
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Elevated circulating aspartate aminotransf... OMIM:613812
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Finger syndactyly, Aniridia, Split hand ORPHA:2440
Cofs Syndrome
Camptodactyly of finger, Cerebral calcification, Microphthalmia, Microcephaly, Aplasia/Hypoplasia... ORPHA:1466
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger OMIM:618725
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Abnormality of the liver ORPHA:79234
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Microphthalmia, Cortical dysplasia ORPHA:261272
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Schisis Association
Encephalocele, Spina bifida, Microcephaly, Anencephaly ORPHA:63862
Hypomelanosis Of Ito
Macrocephaly, Hand polydactyly, Cerebral atrophy, Syndactyly, Microcephaly, Radial deviation of f... OMIM:300337
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... ORPHA:3250
Trisomy 1Q
Macrocephaly, Camptodactyly of finger, Hydrocephalus, Toe syndactyly, Cerebellar hypoplasia, Agen... ORPHA:261344
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Absent toe, Short metatarsal, Short palm, Microcephaly, 2-3 toe s... OMIM:614814
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... ORPHA:822
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Finger syndactyly, Holoprosencephal... ORPHA:1908
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic acetabulae, Hypoplastic scapulae, Micro... OMIM:169550
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly OMIM:613313
Niemann-Pick Disease, Type B
Abnormal macular morphology, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis... OMIM:607616
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... OMIM:618447
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Microphthalmia, Microcephaly, Sandal gap, Hypoplasia of the corp... OMIM:300887
Nanophthalmos 4
Microphthalmia OMIM:615972
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas ORPHA:3032
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Hydrocephalus, Finger syndactyly, Abnormality of t... ORPHA:2378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Anophthalmia, Occipital cortical atrophy ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Cerebral white matter hypoplasia, Pachygyria, Microcephaly, Clinodactyly, Hypoplasia ... OMIM:619091
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Microphthalmia, Me... OMIM:300863
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly, In... OMIM:613027
Glycogen Storage Disease Xii
Jaundice, Normocytic anemia, Anemia, Elevated circulating alanine aminotransferase concentration,... OMIM:611881
Warburg Micro Syndrome 1
Cerebral atrophy, Overlapping toe, Perisylvian polymicrogyria, Microphthalmia, Microcephaly, Cere... OMIM:600118
Fountain Syndrome
Macrocephaly, Short distal phalanx of finger, Spina bifida, Abnormal metacarpal morphology, Coars... ORPHA:3219
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Disorder Of Bile Acid Synthesis
Biliary tract abnormality, Cholestasis, Elevated hepatic transaminase, Abnormality of the liver ORPHA:79168
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Triosephosphate Isomerase Deficiency
Jaundice, Normocytic anemia, Hemolytic anemia, Optic disc pallor, Prolonged neonatal jaundice, Ma... OMIM:615512
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microcephaly, Microphthalmia OMIM:147250
Fanconi Anemia, Complementation Group R
Radial dysplasia, Hydrocephalus, Microphthalmia, Microcephaly, Tethered cord, Absent thumb OMIM:617244
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Cholester... ORPHA:521219
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Curry-Jones Syndrome
Hemimegalencephaly, Polymicrogyria, 2-3 finger syndactyly, Triphalangeal hallux, Microphthalmia, ... OMIM:601707
Diaphanospondylodysostosis
Enlarged kidney, Horseshoe kidney, Absent in utero rib ossification, Absent in utero ossification... OMIM:608022
Aminopterin Syndrome Sine Aminopterin
Macrocephaly, Rudimentary postaxial polydactyly of hands, Short thumb, Umbilical hernia, Syndacty... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Sialuria
Hepatosplenomegaly, Cholelithiasis, Hepatomegaly, Elevated hepatic transaminase ORPHA:3166
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... OMIM:617927
Neu-Laxova Syndrome 2
Spina bifida, Finger syndactyly, Rocker bottom foot, Toe syndactyly, Microcephaly, Cerebellar hyp... OMIM:616038
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebellar ... OMIM:251270
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Agenesis of co... OMIM:207950
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Retinal degeneration, Splenomegaly, Optic atrophy, Rod-cone dystrophy OMIM:602271
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Hydrocephalus, Occipital encephalocele, Postaxial hand p... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... ORPHA:2141
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Summitt Syndrome
Syndactyly OMIM:272350
Glycogen Storage Disease Vii
Jaundice, Reticulocytosis, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Hydrocepha... OMIM:175700
Craniorachischisis
Sirenomelia, Spinal dysraphism, Bifid sternum, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Macrocephaly, Polymicrogyria, Mitral regurgitation, Abnormally large globe, Postaxial polydactyly... OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Microphthalmia, Opt... OMIM:615181
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Macrocephaly, 3-4 finger syndactyly, Microphthalmia, 2-3 toe syndactyly, Anophthalmia OMIM:615877
Trisomy 13
Bilateral single transverse palmar creases, Ectrodactyly, Microphthalmia, Postaxial hand polydact... ORPHA:3378
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholestasis, Cholesterol gallstones, Hepatitis, Hepatic steatosis, Acute hepatic steatosis, Macro... ORPHA:209902
Pierpont Syndrome
Short finger, Abnormal cortical gyration, Primary microcephaly, Excessive wrinkling of palmar ski... ORPHA:487825
Periventricular Nodular Heterotopia 1
Short finger, Thin corpus callosum, Cerebral hemorrhage, Syndactyly, Cerebellar hypoplasia, Clino... OMIM:300049
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Cirrhosis, Hepatic failure, Splenomegaly ORPHA:75234
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Joubert Syndrome 16
Encephalocele, Dandy-Walker malformation, Polydactyly OMIM:614465
Moebius Syndrome
Clinodactyly, Camptodactyly, Syndactyly, Microphthalmia, Lower limb undergrowth, Aplasia/Hypoplas... OMIM:157900
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... ORPHA:2492
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Retinopathy,... ORPHA:158029
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Camptodactyly, Thin corpus callosum, Microphthalmia, Microcephaly, Cubitu... OMIM:619694
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... OMIM:232200
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly, Cirrhosis OMIM:613490
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly OMIM:615085
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Hydrocephalus,... OMIM:613153
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... OMIM:232220
Summitt Syndrome
Macrocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Clinodactyly of t... ORPHA:3210
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... OMIM:614377
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Anophthalmia ORPHA:77298
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Hydrocephalus, Microphthalmia, Short palm, Cerebellar hypoplasia, A... ORPHA:163966
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, P... ORPHA:2538
Adams-Oliver Syndrome 2
Macrocephaly, Polymicrogyria, Cerebral atrophy, Hydrocephalus, Microphthalmia, Short middle phala... OMIM:614219
Gordon Syndrome
Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:376
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Pierpont Syndrome
Short finger, Deep palmar crease, Microphthalmia, Short toe, Broad palm, Short palm, Microcephaly... OMIM:602342
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... OMIM:619662
Nail-Patella Syndrome
Limited elbow extension, Patellar aplasia, Hypoplastic radial head, Spina bifida, Iliac horns, Di... OMIM:161200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Hip dysplasia, Proximal placement of thumb, Hydrocephalus, Spina bifida, Umbilical... OMIM:613776
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... ORPHA:171
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Cholestasis, Biliary atresia, Ascites, Absent gallbladder, Annular pancrea... OMIM:615710
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Small thenar eminence, Pulmonic stenosis, Joint contracture of the 5th finger, Umb... OMIM:618914
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Oc... OMIM:614175
Cimdag Syndrome
Cholelithiasis, Hepatomegaly, Microvesicular hepatic steatosis, Retinal dystrophy OMIM:619273
Joubert Syndrome 18
Camptodactyly, Agenesis of cerebellar vermis, Postaxial polydactyly, Trident pelvis, Occipital en... OMIM:614815
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Camptobrachydactyly
Camptodactyly of finger, Ulnar deviation of finger, Finger syndactyly, Aplasia/Hypoplasia of the ... ORPHA:1319
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... ORPHA:731
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Chronic active hepatitis, Hypoparathyroidism, Pigmentary retinopathy, Cholelithiasis, P... OMIM:240300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Elevated circulating aspartate amin... OMIM:608836
Tyrosinemia, Type I
Acute hepatic failure, Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Renal Fanconi... OMIM:276700
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Cone/cone-rod dystrophy OMIM:614979
Grange Syndrome
Hypertension, Syndactyly, Short palm, Aortic regurgitation ORPHA:79094
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Throm... OMIM:619463
Cerebrooculofacioskeletal Syndrome 4
Polymicrogyria, Camptodactyly of finger, Hip dislocation, Bilateral microphthalmos, Flexion contr... OMIM:610758
Joubert Syndrome 10
Macrocephaly, Cerebellar vermis hypoplasia, Postaxial polydactyly OMIM:300804
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abnormal shoulder ... OMIM:274000
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Macrocephaly, Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyl... OMIM:607131
Focal Dermal Hypoplasia
Camptodactyly of finger, Hand polydactyly, Spina bifida, Telangiectasia of the skin, Umbilical he... ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Progressive microcephaly, Abnormally large globe, Hydrocephalus, Microphth... OMIM:615249
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Abnormal epiphysis morphology, Micro... ORPHA:93267
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Meckel Syndrome
Encephalocele, Postaxial foot polydactyly, Hydrocephalus, Anophthalmia, Lobar holoprosencephaly, ... ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Duplication of phalanx of hand, Hip dislocation, Broad phalanx, Spina bifida, Overlapping toe, Ab... ORPHA:508498
Sclerosteosis
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Vacterl With Hydrocephalus
Hip dislocation, Hydrocephalus, Spina bifida, Hypoplasia of the radius, Aqueductal stenosis, Micr... ORPHA:3412
Monosomy 5P
Finger syndactyly, Microcephaly, Small hand ORPHA:281
Cerebrooculonasal Syndrome
Encephalocele, Macrocephaly, Postaxial polydactyly, Hydrocephalus, Dandy-Walker malformation, Opt... OMIM:605627
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoproliferative glom... ORPHA:251004
Adams-Oliver Syndrome
Encephalocele, Short distal phalanx of finger, Absent hand, Pulmonary arterial hypertension, Hydr... ORPHA:974
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Synd... OMIM:113000
Basal Cell Nevus Syndrome 1
Macrocephaly, Down-sloping shoulders, Palmar pits, Polydactyly, Hydrocephalus, Spina bifida, Shor... OMIM:109400
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly, Hydrocephalus, Meningocele, ... OMIM:614424
Mosaic Trisomy 9
Biparietal narrowing, Camptodactyly of finger, Hip dislocation, Spina bifida, Deep palmar crease,... ORPHA:99776
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda... OMIM:615986
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibros... OMIM:200995
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Optic disc pallor, Hepatomegaly, Thrombocytopenia, Optic atrophy, Spleno... OMIM:611490
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Microcephaly, Polydactyly OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasi... ORPHA:1926
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Bilateral single transverse palmar creases, Finger syndactyly, Short 4th met... ORPHA:264200
Camptobrachydactyly
Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Bartsocas-Papas Syndrome 2
Absent distal phalanges, 2-5 finger cutaneous syndactyly, Small hand, Microphthalmia OMIM:619339
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Hepatic failure,... OMIM:235555
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Joubert Syndrome 33
Splenomegaly, Cone/cone-rod dystrophy OMIM:617767
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Cerebral atrophy, Postaxial polydactyly, Short tibia, Porencephal... OMIM:258860
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Giant... OMIM:607765
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Microcephaly 20, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Microphthalmia, Optic nerve hypoplasia, Small cereb... OMIM:617914
Cerebrocostomandibular Syndrome
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele, Cerebral calcification, Porencephal... ORPHA:1393
Congenital Toxoplasmosis
Cerebral calcification, Microcephaly, Microphthalmia, Hydrocephalus ORPHA:858
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... OMIM:607626
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Mitral regurgitation, Osteolysis involving bones of the lower limbs, Syndactyly, O... ORPHA:88630
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Trisomy 18
Deviation of finger, Camptodactyly of finger, Narrow pelvis bone, Spina bifida, Abnormal hip bone... ORPHA:3380
Meckel Syndrome, Type 6
Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cystic liver disease, Hepatic cysts OMIM:612284
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... ORPHA:93322
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Cholelithiasis, Thrombocytopenia, Normochromic anemia OMIM:618775
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Macrocephaly, Polymicrogyria, Hand polydactyly, Hydrocephalus, Arrhythmia, Finger syndactyly, Toe... ORPHA:60040
Ppoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi... ORPHA:97278
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis ORPHA:171876
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand ORPHA:2547
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Microphthalmia OMIM:610756
Bresek Syndrome
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly ORPHA:85284
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Mitral regurgitation, Umbilical hernia, Tricu... ORPHA:1101
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Microphthalmia, Agenesis of pineal gland OMIM:614402
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514