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Gene: Tcf7l1 MGI:1202876

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Gene Summary

Name:
transcription factor 7 like 1 (T cell specific, HMG box)
Synonyms:
Tcf3

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
increased circulating creatine kinase level Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 2.71×10-09
abnormal vibrissa morphology Tcf7l1tm1a(EUCOMM)Wtsi HET   Early adult 1.75×10-05
abnormal cornea morphology Tcf7l1tm1a(EUCOMM)Wtsi HET   Early adult 7.07×10-05
corneal opacity Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 8.18×10-05
abnormal snout morphology Tcf7l1tm1a(EUCOMM)Wtsi HET   Early adult 8.42×10-05
increased leukocyte cell number Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 7.66×10-05
increased circulating bilirubin level Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 7.75×10-08
increased circulating free fatty acids level Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 3.59×10-07
increased circulating glycerol level Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 4.02×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Tcf7l1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI

View all 197 images

Tcf7l1tm1a(EUCOMM)Wtsi
eye, corneal opacity, abnormal pupil morphology, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
eye, corneal opacity, synechia, cornea/lens fusion, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal opacity, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
corneal vascularization, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
eye, corneal ulcer, corneal opacity, HET, Male, WTSI

View all 10 images

Tcf7l1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Tcf7l1 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 Tcf7l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Apolipoprotein A-I Deficiency
Splenomegaly, Corneal opacity, Anemia, Decreased HDL cholesterol concentration ORPHA:425
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Squared iliac bones, Hydrops fetalis, Advanced tarsal ossification, Stillbirth, F... OMIM:215045
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Metaphyseal irregularity, Epicanthus, Ptosis, Death in childhood, Congestive hea... OMIM:269920
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:3111
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Hypoplastic ilia, Umbilical hernia, Edema, Breech pr... OMIM:600972
Boomerang Dysplasia
Polyhydramnios, Abnormality of tibia morphology, Abnormality of femur morphology, Hydrops fetalis... ORPHA:1263
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Splenomegaly, Anemia, Anemia of inade... OMIM:613673
Dermoids Of Cornea
Corneal opacity OMIM:304730
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Fetal Gaucher Disease
Hydrops fetalis, Ectropion, Stillbirth, Intracranial hemorrhage, Fetal akinesia sequence, Death i... ORPHA:85212
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Mesomelic leg shorte... ORPHA:2756
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Almond-shaped palpebral fissure, Clinodactyly of the 3rd toe, Clinodactyly of the 5... ORPHA:521308
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Antecub... ORPHA:93320
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Hydrops fetalis, Maternal diabetes, Paroxysmal supraventri... ORPHA:45452
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Ectropion, Elbow d... ORPHA:3258
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Opacification of the corneal stroma,... OMIM:245900
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Galactosialidosis
Corneal opacity ORPHA:351
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Hydrops fetalis, Polyhydramnios, Limb undergrowth ORPHA:2204
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Aniridia, Absent hand, Finger syndactyly, Split hand ORPHA:2440
Winchester Syndrome
Corneal opacity OMIM:277950
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Oligohydramnios, Forearm undergrowth, Absent radius, Short... OMIM:251230
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Robin Sequence-Oligodactyly Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... ORPHA:3104
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphysea... ORPHA:85166
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Morquio Syndrome C
Corneal opacity OMIM:252300
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly OMIM:614416
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Epicanthus, Postaxi... OMIM:614091
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence, Death in infancy, Dilated cardiomyopathy, Bradycardia, ... OMIM:618815
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Achondrogenesis Type 1B
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Short foot, Talipe... ORPHA:93298
Achondrogenesis Type 1A
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Short foot, Short ... ORPHA:93299
Lcat Deficiency
Hypertriglyceridemia, Hemolytic anemia, Corneal opacity, Splenomegaly ORPHA:650
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Absent eyelashes, Plantar telangiectasia, Palpebral edema, Pleural effusion, Abs... ORPHA:69735
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Ethanolaminosis
Cardiomegaly OMIM:227150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Short long... OMIM:200610
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Achondrogenesis
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Micromelia ORPHA:932
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Short femur, Hydrops fetalis, Pleural effusion, Limb undergrowth, Decreased fibul... OMIM:616897
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth, Cardiomyopathy ORPHA:1909
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid OMIM:608540
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Congestive heart fa... ORPHA:163596
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Fibular hypoplasia, Clinodactyly, Talipes equinova... OMIM:201170
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hydrops fetalis, Increased placental thickness, Broad long bones, Hypoplasti... ORPHA:1865
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Klippel-Trénaunay Syndrome
Hydrops fetalis, Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Upper... ORPHA:90308
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Hydrops fetal... ORPHA:261344
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Achondrogenesis, Type Ia
Polyhydramnios, Hypoplasia of the radius, Hydrops fetalis, Abnormal hand bone ossification, Still... OMIM:200600
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Corneal opacity ORPHA:2370
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Decreased fetal movement, Ptosis, Hydrops fetalis OMIM:255320
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal ... ORPHA:1307
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Ankyloblepharon, Absent eyebrow, Absent radius, Short thumb, Absent palm... OMIM:263650
Mucopolysaccharidosis, Type Vii
Genu valgum, Hydrops fetalis, Umbilical hernia, Thick eyebrow, Metatarsus adductus, Acetabular dy... OMIM:253220
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Absent eyelashes, Palpebral edema, Absent eyebrow, Predominantly lower limb lymphedema, Palmar te... OMIM:607823
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Pulmonic stenosis, Congestive heart f... ORPHA:2414
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Blepharophimosis,... OMIM:206920
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Oligohydramnios, Narrow palpebral fissure, 2-3 toe syndactyly, Brachydactyly, Neonata... OMIM:236500
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones, D... OMIM:228520
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Gómez-López-Hernández Syndrome
Alopecia of scalp, Corneal opacity ORPHA:1532
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Mulibrey Nanism
Hydrops fetalis, Iris coloboma, Congestive heart failure, Ascites, Single transverse palmar creas... OMIM:253250
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Sialidosis Type 2
Hydrops fetalis, Ascites, Umbilical hernia, Pedal edema ORPHA:87876
Mandibuloacral Dysplasia
Hypercholesterolemia, Sparse hair, Hypertriglyceridemia, Alopecia, Increased circulating free fat... ORPHA:2457
Fraser Syndrome 3
Cutaneous syndactyly, Short toe, Hydrops fetalis, Cryptophthalmos OMIM:617667
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Lymphedema, Upslanted palpebral fissure, Atrial flutter, Epicanthus, Telecanthus... OMIM:601927
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Increased placental thickness, Lymphedema, Pleural effusion, Pericard... ORPHA:1041
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Broad long bones, Tibial bowing, Crumpled long bones, Congestive heart f... OMIM:166210
Trisomy 13
Postaxial hand polydactyly, Hydrops fetalis, Abnormal eyelash morphology, Iris coloboma, Bilatera... ORPHA:3378
Campomelia, Cumming Type
Hydrops fetalis, Oligohydramnios, Lymphedema, Bowing of the long bones, Death in infancy, Clubbin... ORPHA:1318
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites ORPHA:2123
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Hydrocephalus, Oligohydramnios, Ectrodactyly ORPHA:3016
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Hydrops fetalis, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of the 4th fing... OMIM:616738
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Edema, Ascites, Portal hypertension, C... OMIM:232500
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Mosaic Trisomy 9
Polyhydramnios, Rocker bottom foot, Spina bifida, Deep palmar crease, Camptodactyly of finger, Hy... ORPHA:99776
Greenberg Dysplasia
Polyhydramnios, Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone o... OMIM:215140
Fish-Eye Disease
Splenomegaly, Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hydrops fetalis OMIM:224120
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Tapered toe, Aplasia/Hypoplasia of the distal phalanges of the h... OMIM:216340
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Congenital Enterovirus Infection
Polyhydramnios, Abnormal bleeding, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial ef... ORPHA:292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Cataract, Corneal opacity OMIM:613153
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Erythrokeratodermia Variabilis
Abnormal hair morphology, Corneal opacity, Cataract, Alopecia, Generalized hirsutism ORPHA:317
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration OMIM:614025
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Retinal coloboma, Preaxial polydactyly, Postaxial polydactyly, A... OMIM:616546
Olmsted Syndrome 1
Sparse hair, Corneal opacity, Opacification of the corneal stroma, Alopecia universalis, Nail dys... OMIM:614594
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Transaldolase Deficiency
Hydrops fetalis, Edema, Telangiectasia ORPHA:101028
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Chylothorax, Edema,... OMIM:265300
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the l... ORPHA:50945
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Abnormality of the hairline, Elevated circulating long chain fatty acid conce... OMIM:614886
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Fibular aplasia, Telec... OMIM:165590
Neuraminidase Deficiency
Epiphyseal stippling, Hydrops fetalis, Facial edema, Ascites, Cardiomyopathy OMIM:256550
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Hemochromatosis, Neonatal
Abnormal bleeding, Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Hydrops fetalis, Lymphedema, Umbilical hernia, Metatarsus adductus, Abnorma... ORPHA:584
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Sparse eyebrow, Slender long bones with narrow diaphyses, Increa... ORPHA:3472
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Corneal opacity, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Epicanthus, Facial edema, Edema, Ascites, Nonimmune... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal ... ORPHA:529808
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Neonatal death, Premature birth, Nonimmune hydrops fetalis, Hypertrophic cardio... OMIM:618835
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal ... ORPHA:529799
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Hydrops fetalis, Iris coloboma, Foot polydactyly, Eyelid coloboma, Hydroc... ORPHA:268249
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence, Talipes equinovar... OMIM:617022
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Thanatophoric Dysplasia, Type Ii
Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Decrease... OMIM:187601
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Lathosterolosis
Short nose, Hyperbilirubinemia, Increased mean platelet volume, Schistocytosis, Wide nasal bridge... OMIM:607330
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:603776
Cranioectodermal Dysplasia 2
Polyhydramnios, Postaxial hand polydactyly, Sparse eyebrow, Hydrops fetalis, Blepharophimosis, Po... OMIM:613610
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Limb-Mammary Syndrome
Oligodactyly, Lacrimal duct atresia, Sparse eyebrow, Toe syndactyly, Chronic irritative conjuncti... ORPHA:69085
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycy... OMIM:613280
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia, Cataract, Anemia, Splenomegaly ORPHA:290
Abetalipoproteinemia
Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decre... ORPHA:14
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin... ORPHA:1667
Congenital Toxoplasmosis
Hepatomegaly, Cerebral calcification, Cardiomegaly, Intrauterine growth retardation, Microcephaly... ORPHA:858
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Short Syndrome
Sparse hair, Posterior embryotoxon, Corneal opacity, Wide nasal bridge, Hypoplasia of the iris, M... ORPHA:3163
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Broad thumb, Exencephaly, Finger syndactyly, Broad hallux phalanx, Pto... ORPHA:2211
Farber Disease
Hydrops fetalis, Joint swelling, Abnormality of the elbow, Short finger, Abnormal conjunctiva mor... ORPHA:333
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Elbow dislocation, Death in infancy, Bilateral single transverse ... ORPHA:1106
Gm1 Gangliosidosis
Camptodactyly of finger, Hydrops fetalis, Abnormality of epiphysis morphology, Limb undergrowth, ... ORPHA:354
Thanatophoric Dysplasia, Type I
Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Bowing o... OMIM:187600
Blepharocheilodontic Syndrome 1
Ectropion of lower eyelids, Neural tube defect, Clinodactyly, Distichiasis, Cutaneous syndactyly OMIM:119580
Hurler-Scheie Syndrome
Generalized hirsutism, Corneal opacity, Splenomegaly ORPHA:93476
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Mietens Syndrome
Short nose, Corneal opacity, Wide nasal bridge, Cataract, Microcornea, Sclerocornea ORPHA:2557
Tukel Syndrome
Postaxial oligodactyly, Congenital fibrosis of extraocular muscles, Syndactyly, Ptosis, Carpal sy... OMIM:609428
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Synophrys, Wide nasal bridge, Conjunctivitis, Thick eyebrow, Keratitis OMIM:602562
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Hypercholesterolemia, Familial, 2
Corneal arcus, Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Corneal opacity OMIM:618961
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Oculomaxillofacial Dysostosis
Abnormal eyelash morphology, Corneal opacity, Wide nasal bridge, Sparse or absent eyelashes, Apla... ORPHA:1794
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Bachmann-Bupp Syndrome
Sparse scalp hair, Hyperbilirubinemia, Absent eyebrow, Sparse eyelashes OMIM:619075
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Astigmatism, Myopic astigmatism OMIM:152950
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Single umbilical artery, Hydrops fetalis ORPHA:3405
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in infancy, Decreased fetal movement, Neonatal death, Death in childhood, A... OMIM:619334
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Corneal opacity, Cataract, Alopecia, Nail dystrophy ORPHA:1867
Mitochondrial Trifunctional Protein Deficiency
Prenatal maternal abnormality, Hydrops fetalis, Arrhythmia, Abnormality of the amniotic fluid, Co... OMIM:609015
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Cornelia De Lange Syndrome
Elbow dislocation, Bilateral single transverse palmar creases, Increased nuchal translucency, Pre... ORPHA:199
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic... OMIM:230500
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Decreased plasma free carnitine, Ele... OMIM:608836
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Broad metacarpals, Broad long bone diaphyses, Flared iliac wing, Flattened femor... ORPHA:79255
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Free Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Abnormality of the upper limb ORPHA:834
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Abnormality of finger, Elbow dislocation, Arrhinencephaly, Abnormality... ORPHA:2538
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Cataract, Hepatosple... ORPHA:168577
Caroli Syndrome
Leukocytosis, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus, Thrombocyt... ORPHA:480520
Tangier Disease
Corneal opacity, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplen... ORPHA:31150
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Loss of eyelashes, Corneal neov... ORPHA:163934
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Scarring a... ORPHA:79277
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Bartsocas-Papas Syndrome
Short nose, Corneal opacity, Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of ... ORPHA:1234
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly ORPHA:61
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Neonatal hyperbilirubinemia, Low posterior hairline ORPHA:73272
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Sialidosis Type 1
Cataract, Corneal opacity, Wide nasal bridge, Splenomegaly ORPHA:812
Cantu Syndrome
Pericardial effusion, Umbilical hernia, Congenital hypertrophy of left ventricle, Cardiomegaly, B... OMIM:239850
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Fetal akinesia sequence, Congestive heart failure, Ascites, Nonimmune hydrops fet... ORPHA:367
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma, Wide nasal bridge OMIM:614230
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops ... OMIM:263520
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Acrofacial Dysostosis 1, Nager Type
Absent radius, Premature birth, Downslanted palpebral fissures, Triphalangeal thumb, Hallux valgu... OMIM:154400
Hennekam Syndrome
Camptodactyly of finger, Hydrops fetalis, Finger syndactyly, Lymphedema, Pericardial effusion, Ep... ORPHA:2136
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Short nose ORPHA:496790
Pallister-Hall Syndrome
Broad thumb, 3-4 finger cutaneous syndactyly, Supernumerary metacarpal bones, Downslanted palpebr... ORPHA:672
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Arrhinencephaly, Aplasia/Hypoplasia of the radius, Aque... ORPHA:1788
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Hydrocephalus, Lymphedema, Epistaxis, Chylothorax, Congestive heart failure, C... ORPHA:137667
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Iris coloboma, Sparse scalp hair, Cataract, Abnormal cornea morphology ORPHA:2611
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis OMIM:256540
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Rodrigues Blindness
Fine hair, Microcornea, Sparse hair, Sclerocornea OMIM:268320
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Fine hair, Corneal ... ORPHA:1806
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hirsutism, Corneal opacity, Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase co... OMIM:301056
Tangier Disease
Splenomegaly, Opacification of the corneal stroma, Nail dystrophy, Decreased HDL cholesterol conc... OMIM:205400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Widow's peak, Abnormal eyelash morphology, Corneal opacity, Cataract, Conjunctiva... ORPHA:2399
Scheie Syndrome
Corneal opacity OMIM:607016
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:143890
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary embolism, Dehydration, Ma... ORPHA:79282
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Oligodactyly, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology, A... ORPHA:2273
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Hurler-Scheie Syndrome
Hirsutism, Corneal opacity, Splenomegaly OMIM:607015
Caroli Disease
Leukocytosis, Conjugated hyperbilirubinemia, Conjunctival icterus, Splenomegaly, Liver abscess ORPHA:53035
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Polyhydramnios, Short femur, Short metatarsal, Stillbi... OMIM:108720
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid conc... ORPHA:567983
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Iris coloboma, Corneal opacity, Cataract, Mic... ORPHA:899
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Poland Syndrome
Unilateral oligodactyly, Syndactyly, Hypoplasia of deltoid muscle, Unilateral brachydactyly OMIM:173800
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Short femur, Foot oligodactyly, Coloboma OMIM:601357
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Periventricular leukomalacia, Microcephaly, Cardiomegaly OMIM:619170
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Cardiac Valvular Defect, Developmental
Hydrops fetalis, Edema, Mitral stenosis, Tricuspid regurgitation OMIM:212093
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Lowry-Maclean Syndrome
Short nose, Developmental glaucoma, Corneal opacity, Generalized hypertrichosis, Megalocornea ORPHA:2409
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Congenital Fibrinogen Deficiency
Abnormal bleeding, Clubbing of fingers, Internal hemorrhage, Tachycardia, Gingival bleeding, Abno... ORPHA:335
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Purpura, Decreased fetal movement, Petechiae, Premature birth, Ascites, Nonimmune... OMIM:608013
Hardikar Syndrome
Hyperbilirubinemia, Splenomegaly OMIM:612726
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Prolonged prothrombin time, Cardiomyopathy ORPHA:88618
X-Linked Intellectual Disability, Nascimento Type
Developmental cataract, Abnormal hair whorl, Neutropenia, Synophrys, Lumbar hypertrichosis, Neona... ORPHA:163956
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Short nose, Corneal opacity, Ocular albinism, Ca... ORPHA:2719
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea OMIM:615145
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Hepatoerythropoietic Porphyria
Abnormal bleeding, Ectropion, Abnormality of the amniotic fluid, Loss of eyelashes, Edema, Nonimm... ORPHA:95159
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:613471
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:309288
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma, Increased circulating cortisol level, Alopecia ORPHA:3453
Cystinosis
Hypophosphatemia, Hypokalemia, Corneal opacity ORPHA:213
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Wide nasal bridge, Cataract ORPHA:912
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Multiple Sulfatase Deficiency
Coarse hair, Corneal opacity, Cataract, Thick eyebrow, Splenomegaly ORPHA:585
Klippel-Trenaunay-Weber Syndrome
Hand polydactyly, Lymphedema, Macrodactyly, Syndactyly, Hand oligodactyly OMIM:149000
Juvenile Sialidosis Type 2
Generalized hypertrichosis, Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:93399
Sanjad-Sakati Syndrome
Astigmatism, Hypocalcemia, Corneal opacity, Hyperphosphatemia ORPHA:2323
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Upslanted palpebral fissure, Hydrops fetalis, Death in infancy OMIM:300868
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Sparse scalp hair, Keratitis, Opacification of the corneal stroma, Corneal ulce... OMIM:256800
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Sandal gap, Neonatal death, Syndactyly, Tapered distal phal... OMIM:609638
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Generalized hypertrichosis, Cataract, Hepatosplenomegaly ORPHA:93400
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Coarse hair, Thrombocytopenia, Abnormal T cell morphology, Opacificatio... OMIM:242900
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Cardiomegaly ORPHA:3137
Hsd10 Disease, Infantile Type
Cerebral atrophy, Frontotemporal cerebral atrophy, Abnormality of the basal ganglia, Cardiomegaly... ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Cataract, Opacificatio... OMIM:211370
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Premature birth, Edema OMIM:602522
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity, Alopecia OMIM:163200
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Eosinophilic Gastroenteritis
Leukocytosis, Steatorrhea, Hypoalbuminemia, Anemia, Elevated circulating C-reactive protein conce... ORPHA:2070
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Red hair, Keratoglobus, Abnormal cornea morphology OMIM:229200
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Hyponatremia, Corneal opacity, Abnormal pupil morphology ORPHA:1764
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Secondary mi... OMIM:618652
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity, Alopecia ORPHA:1647
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93474
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma OMIM:215250
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Mucopolysaccharidoses, Unclassified Types
Opacification of the cornea