Gene Summary

PHD finger protein 20-like 1
E130113K22Rik,  CGI-72

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 heart weight Phf20l1em1(IMPC)Tcp HOM Early adult 1.27×10-05
enlarged lymph nodes Phf20l1em1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Phf20l1em1(IMPC)Tcp HOM Early adult 2.62×10-05
abnormal sternum morphology Phf20l1em1(IMPC)Tcp HOM Early adult 0.00
increased mean platelet volume Phf20l1em1(IMPC)Tcp HOM   Early adult 2.00×10-05
decreased total body fat amount Phf20l1em1(IMPC)Tcp HOM Early adult 1.42×10-05
increased spleen weight Phf20l1em1(IMPC)Tcp HOM Early adult 1.86×10-06
increased grip strength Phf20l1em1(IMPC)Tcp HOM   Early adult 7.85×10-05
increased freezing behavior Phf20l1em1(IMPC)Tcp HOM   Early adult 1.45×10-07
abnormal brain morphology Phf20l1em1(IMPC)Tcp HOM Early adult 0.00
increased mean corpuscular volume Phf20l1em1(IMPC)Tcp HOM Early adult 1.96×10-07
abnormal bone structure Phf20l1em1(IMPC)Tcp HOM   Early adult 6.93×10-06
short tibia Phf20l1em1(IMPC)Tcp HOM Early adult 9.29×10-05
increased lean body mass Phf20l1em1(IMPC)Tcp HOM Early adult 4.22×10-05
decreased body length Phf20l1em1(IMPC)Tcp HOM Early adult 2.90×10-08
cataract Phf20l1em1(IMPC)Tcp HOM   Early adult 1.29×10-05

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lacZ Expression

Expression data not available

Associated Images

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



6 Images

Eye Morphology

Images Ophthalmoscopy

99 Images


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

51 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Phf20l1 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 Phf20l1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Ven... OMIM:169400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Ventricular septal defect, Triphalangeal thumb, Increased mean c... OMIM:612561
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... ORPHA:182050
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... OMIM:601376
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Fechtner syndrome
Neutrophil inclusion bodies, Developmental cataract, Leukocyte inclusion bodies, Giant platelets,... OMIM:153640
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... ORPHA:2169
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Metaphyseal irregularity, Pancytopenia, Bone marrow... ORPHA:811
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Neutropenia, Increased mean corpuscular volume, Tri... OMIM:612562
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Majeed Syndrome
Erythroid hyperplasia, Failure to thrive, Hepatosplenomegaly, Microcytic anemia, Flexion contract... OMIM:609628
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Oslam Syndrome
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... ORPHA:2760
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Abnormal dental enamel mor... OMIM:601559
Blackfan-Diamond Anemia
Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticulocytopenia, M... ORPHA:124
Toe syndactyly, Micrognathia, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis... OMIM:607330
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Immunodeficiency 40
Lymphopenia OMIM:616433
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Immunodeficiency 8
Lymphopenia OMIM:615401
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Hypoplasi... OMIM:612447
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Irritability, Decreased ... ORPHA:231226
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Irr... ORPHA:231214
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Bicuspid aortic valve, Hepatic fibr... ORPHA:84064
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, F... OMIM:617514
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Increased mean corpuscular volum... ORPHA:261250
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Tapered finger, Proximal placement of thumb, Pulmonic stenosis, A... OMIM:616737
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract, Micromelia OMIM:273680
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Metatarsus adductus, Limb joint contracture, Failure to thrive in infancy, Talipes equinovarus, A... ORPHA:356961
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Short ribs, Hypopl... OMIM:607143
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Osteoporosis, Anemia, Splenome... ORPHA:100024
Eiken Syndrome
Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Metaphyseal irregularity, E... ORPHA:79106
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Endove Syndrome, Limb-Only Type
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... OMIM:619217
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot... OMIM:251190
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphadenopathy, Failure to thrive, Lymphocytosis, Thrombocytopenia OMIM:617718
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Epiphyseal stippling, Cataract, Jaundice OMIM:614876
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Cataract, Jaundice ORPHA:79238
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Cardiomegaly, Anisocytosis, Irritabilit... OMIM:618278
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Tapered finger, Total anomalous pulmonary venous return, Abnormal... ORPHA:487796
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Ventricular septal defect, Hepatic ... OMIM:222470
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Weight loss, Anemia, My... ORPHA:160
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Failure to thrive, Splenome... OMIM:618534
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Syndactyly, Po... OMIM:615631
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Hypoplasia of the femoral head, Lym... OMIM:209950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... ORPHA:96334
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... ORPHA:86839
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Infantile Sialic Acid Storage Disease
Abnormal foot morphology, Hepatomegaly, Ascites, Failure to thrive, Vacuolated lymphocytes, Metap... OMIM:269920
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Abnormality of the metaphysis, Aplasia/Hypoplasi... ORPHA:290
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowth, Oligodac... OMIM:251230
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypo... ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Short ribs, Delayed epiphys... OMIM:602557
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poiki... OMIM:224120
Neuraminidase Deficiency
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Card... OMIM:256550
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower lim... ORPHA:3035
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Failu... ORPHA:276
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis... ORPHA:848
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Micrognathia, Ventricular septal defect, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Metatropic Dysplasia
Abnormality of the metaphysis, Abnormal cortical bone morphology, Coarse metaphyseal trabeculariz... ORPHA:2635
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Failure to thrive, Panniculitis, Anemia, Lipodystrophy, Splenomega... OMIM:617591
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Hepatomegaly, Bowing of the long bones, Hypoplastic inferior ilia, Splenomegaly, Hip dysplasia, C... ORPHA:61
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Failure to thrive, Lymphopenia, T lymphocytopenia, Absence of ... ORPHA:277
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Micrognathia, Horizontal ribs, Decreased calvarial ossifi... OMIM:617925
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Cardiomyopathy, Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Abnormality of epiphysis morphology, Enamel hypoplasia, Abnormal rib morphology, Cat... ORPHA:2643
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Craniofacial hyperostosis, Cataract, Abnorm... ORPHA:2725
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Broad thumb, Failure to thrive, Hypoplasia of... OMIM:612541
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Delayed pubic bone ossificati... ORPHA:93296
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Omodysplasia 1
Micrognathia, Popliteal pterygium, Ventricular septal defect, Rhizomelia, Limited knee flexion/ex... OMIM:258315
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly,... OMIM:613091
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Failure to thrive, P... OMIM:613179
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Noonan Syndrome 12
Ventricular septal defect, Proximal placement of thumb, 11 pairs of ribs, Tetralogy of Fallot, Ly... OMIM:618624
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Failure to thrive, Decreased proportion of CD3-positive T cells, He... ORPHA:169154
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Cataract, Delayed ossification of carpal bones, Short ... OMIM:127200
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Greenberg Dysplasia
Omphalocele, Epiphyseal stippling, Short ribs, Abnormal bone structure, Supernumerary vertebral o... OMIM:215140
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Saul-Wilson Syndrome
Micrognathia, Neutropenia, Talipes equinovarus, Short metatarsal, Short metacarpal, Short distal ... OMIM:618150
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Failure to thrive, Rickets, ... OMIM:600081
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Ventricular septal defect, Hepatic fibrosis, Polysyndactyly of hallux, Dispropor... OMIM:263520
Occipital Horn Syndrome
Keloids, Absent tibia, Rickets, Hepatitis, Aplastic clavicle, Pes planus, Atypical scarring of sk... ORPHA:198
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Panniculitis, Anemia, B... ORPHA:508542
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Failure to thrive, Rhizomelia, Osteopenia, Stippled calcification proximal humeral ... OMIM:222765
Peroxisome Biogenesis Disorder 5A (Zellweger)
Metatarsus adductus, Micrognathia, Hepatomegaly, Talipes equinovarus, Epiphyseal stippling, Failu... OMIM:614866
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:264700
Fibrochondrogenesis 1
Omphalocele, Broad ischia, Short ribs, Joint contracture of the hand, Megalocornea, Camptodactyly... OMIM:228520
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... OMIM:274000
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... OMIM:603554
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Cataract, Obesity, Brachydac... OMIM:612463
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Aggressive behavior, Cardiomegaly, Dense calvaria, Splenomegaly, As... OMIM:252920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Anterior rib cupping, Failure to thrive, Reduced red cell adenos... OMIM:102700
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Lymphopenia, Prominent floating ribs OMIM:152800
Eisenmenger Syndrome
Brain abscess, Hepatomegaly, Ventricular septal defect, Bacterial endocarditis, Increased mean co... ORPHA:97214
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Micrognathia, Ventricular septal defect, Adducted thumb, Ascites, De... OMIM:616897
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Clinoda... OMIM:603585
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Stiff Skin Syndrome
Bicuspid aortic valve, Lipodystrophy, Knee flexion contracture, Cataract, Camptodactyly, Elbow fl... OMIM:184900
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Opacification of the corneal stroma, Neutropenia, Anemia, Astigmatism... OMIM:242900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Failure to thrive, Decreased proportion of CD... ORPHA:331206
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Mietens Syndrome
Microcornea, Metatarsus adductus, Talipes, Sclerocornea, Avascular necrosis of the capital femora... ORPHA:2557
Alpha-Mannosidosis, Adult Form
Osteopenia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Anxiety, Depression ORPHA:309288
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dyspla... OMIM:250250
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Pes planus, Splenomegaly, Hepatosplenomega... OMIM:602782
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Adams-Oliver Syndrome
Leukopenia, Talipes, Abnormality of the lower limb, Congenital hepatic fibrosis, Ascites, Failure... ORPHA:974
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Enlargement o... OMIM:223800
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... OMIM:618805
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Obesity, Splenomegaly OMIM:605309
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, ... ORPHA:100026
Pseudo-Torch Syndrome 1
Hepatomegaly, Opacification of the corneal stroma, Failure to thrive, Splenomegaly, Cataract, Thr... OMIM:251290
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Hemochromatosis, Type 3
Neutropenia, Anemia, Cardiomyopathy, Cirrhosis, Lymphopenia OMIM:604250
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, Lymphop... OMIM:242700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice OMIM:608885
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Splenomegaly, Megalocornea, Opacification of the corneal stroma, Short long ... OMIM:252500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Failure to thrive, Absent tonsils, Lymph node hypoplasia OMIM:602450
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Immunodeficiency 31C
Lymphopenia, Osteopenia, Autoimmune hemolytic anemia OMIM:614162
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar h... OMIM:119800
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... OMIM:186500
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Megalocornea, Lateral humeral condyle aplasia, Coxa... OMIM:164900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Camurati-Engelmann Disease
Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, Slender build, ... ORPHA:1328
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Proteus-Like Syndrome
Limbal dermoid, Shagreen patch, Thymus hyperplasia, Lower limb asymmetry, Hyperostosis, Genu recu... ORPHA:2969
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Th... OMIM:114290
Peroxisome Biogenesis Disorder 2A (Zellweger)
Metatarsus adductus, Micrognathia, Hepatomegaly, Talipes equinovarus, Failure to thrive, Abnormal... OMIM:214110
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Small for gestational age, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasi... OMIM:227270
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Nuclear cataract, Failure to thrive in infancy, Normocyti... OMIM:610377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Short iliac bones, Metaphyseal widening, Pes valgus, Rhizomelia, Short foot, Brachy... OMIM:614376
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Atrial septal defect, Postaxial oligoda... OMIM:608571
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Spatulate thumbs, Pes planus, 11 pairs... OMIM:245600
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Camptodactyly of finger, Micrognathia, Bowing of the... ORPHA:90652
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Hydrolethalus Syndrome 1
Omphalocele, Upper limb undergrowth, Micrognathia, Ventricular septal defect, Complete atrioventr... OMIM:236680
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Abnormal femoral head morphology, Small f... ORPHA:1830
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Omphalocele, Short metatarsal, Short ribs, Broad hallux, Bulbous ti... OMIM:304120
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... ORPHA:486
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, Microcornea, 4-5 toe syndactyl... OMIM:260660
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Arachnodactyly, Hypochromic anemia, Reduced bone mineral density, Iris hypopigme... ORPHA:2720
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Short phalanx of finger, Elbow flexion contracture, Micr... ORPHA:508533
Lethal Congenital Contracture Syndrome 10
Omphalocele, Micrognathia, Ventricular septal defect, Adducted thumb, Talipes equinovarus, Hypopl... OMIM:617022
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Hepatic cysts, Epiphyseal dysplasia, Dislocated radial head, Brachydactyly... OMIM:617425
Abnormal metaphyseal trabeculation, Micrognathia, Diaphyseal thickening, Sclerosis of skull base,... OMIM:224300
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity,... ORPHA:549
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Acro-Renal-Mandibular Syndrome
Micrognathia, Thin ribs, Hypoplastic scapulae, Congenital diaphragmatic hernia, Hypoplasia of the... ORPHA:958
Mirage Syndrome
Radial club hand, Leukopenia, Talipes equinovarus, Rocker bottom foot, Anemia, Overlapping finger... OMIM:617053
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Popov-Chang syndrome
Failure to thrive, Self-injurious behavior, Small hand, Pulmonic stenosis, Short foot, Lymphopeni... OMIM:618428
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Hepatitis, Decreased proportion of CD3-posit... ORPHA:169160
Toe syndactyly, Micrognathia, Anisopoikilocytosis, Opacification of the corneal stroma, Hepatomeg... ORPHA:46059
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Weill-Marchesani Syndrome 2
Short metatarsal, Aortic valve stenosis, Umbilical hernia, Elbow flexion contracture, Ventricular... OMIM:608328
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Long fibula, Abnormality of the metaphysis, Anemia, Abnormality of the pancreas, Reduced bone min... ORPHA:935
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, 2-3 toe syndactyly, Irritability, Lymphopenia ORPHA:391307
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Pes cavus,... OMIM:231005
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Failure to thrive, Paratracheal lymphadenopathy, Anemia, Lymphopenia,... OMIM:615934
Alpha-Mannosidosis, Infantile Form
Cortical thickening of long bone diaphyses, Thickened ribs, Cranial hyperostosis, Bilateral coxa ... ORPHA:309282
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Pseudohypoparathyroidism Type 1A
Short 5th metacarpal, Abnormal platelet function, Short metatarsal, Reduced bone mineral density,... ORPHA:79443
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Failure to thrive, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Meige Disease
Lymph node hypoplasia, Atypical scarring of skin, Cellulitis, Absence of lymph node germinal cent... ORPHA:90186
Mucopolysaccharidosis Type 3
Splenomegaly, Reduced bone mineral density, Hypersexuality, Opacification of the corneal stroma, ... ORPHA:581
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Nail-Patella Syndrome
Microcornea, Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Hypoplasia of first ... OMIM:161200
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Codas Syndrome
Omphalocele, Hypoplasia of the odontoid process, Metaphyseal dysplasia, Developmental cataract, V... OMIM:600373
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Neutropenia, Short iliac bones, Lymphadenopathy, Metaphyseal widening, Met... OMIM:607944
Pseudohypoparathyroidism Type 1C
Short 3rd metacarpal, Short 5th metacarpal, Short metatarsal, Short fifth metatarsal, Ectopic oss... ORPHA:79444
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Weight loss, Anemia, Reduced... ORPHA:90362
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Reduced natural killer cell count, Decreased proportion of CD4-posi... OMIM:619510
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Sponastrime Dysplasia
Neutropenia, Congenital aphakia, Metaphyseal irregularity, Pes planus, Hip subluxation, Shallow a... ORPHA:93357
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Horizontal ribs, Early ossification of capital femoral epiphyses, Hepatic fi... OMIM:208500
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Metatarsus adductus, Ventricular septal defect, Tibial bowing, Mitral valve ... ORPHA:500095
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Charge Syndrome
Omphalocele, Absent tibia, Dysplastic tricuspid valve, Iris coloboma, Overriding aorta, Hand poly... OMIM:214800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Hajdu-Cheney Syndrome
Mitral stenosis, Absent frontal sinuses, Splenomegaly, Iris coloboma, Short toe, Aortic valve ste... ORPHA:955
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Thin ribs, Hypoplastic scapulae, Congenital diaphragmatic hernia, M... OMIM:200980
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, ... OMIM:615688
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Limb undergrowth, Anemia, Truncal obesity, Pes cavus, Lymphopenia, Catara... OMIM:616541
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Anterior rib cupping, Talipes equinovarus, Pterygium,... OMIM:211350
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Talipes equinovarus, Anxiety, Failure to thrive, Iris colob... ORPHA:250989
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Abdominal situs inversus, Asplenia, Failure... OMIM:306955
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Lymphadenopathy, Adipose tissue loss, Splenomegaly, Camptodactyly of finger, Clubb... OMIM:256040
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Weill-Marchesani Syndrome 1
Broad metatarsal, Ventricular septal defect, Shallow anterior chamber, Thin bony cortex, Ectopia ... OMIM:277600
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Talipe... ORPHA:959
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Zonular cataract, Cataract, Spontaneous hemolytic crises, Bra... ORPHA:168577
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Ascites, Ly... ORPHA:93552
Common Variable Immunodeficiency
Failure to thrive in infancy, Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Absent natural kil... OMIM:600802
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Immunodeficiency 49
Eosinophilia, Micrognathia, Lymphopenia, Umbilical hernia OMIM:617237
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Yunis-Varon Syndrome
Short middle phalanx of finger, Short ribs, Syndactyly, Short toe, Abnormal pelvis bone morpholog... ORPHA:3472
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Icf Syndrome
Micrognathia, Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia ORPHA:2268
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Triphalangeal hallux, Broad toe, Short ribs, Broad distal phalanges of all... OMIM:218330
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Cataract, Exo... OMIM:269200
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Anemia, Bone marrow hypocellularity, Cirrhosis, Lymphopenia, Thrombocytopenia, Apla... OMIM:127550
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Fasciitis, Pann... ORPHA:228119
Tibial Hemimelia
Absent tibia OMIM:275220
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypopla... ORPHA:1827
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatomegaly, Cervical lymphadenopathy, Biventricular hypertrophy, Ascite... OMIM:619573
Blomstrand Lethal Chondrodysplasia
Micrognathia, Abnormality of epiphysis morphology, Bowing of the long bones, Rhizomelia, Aplastic... ORPHA:50945
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Aplasia/hypopl... OMIM:276820
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Agammaglobulinemia, X-Linked
Conjunctivitis, Cor pulmonale, Enteroviral hepatitis, Lymph node hypoplasia OMIM:300755
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Omphalocele, Micrognathia, Ventricular septal defect, Flexion contracture of toe... OMIM:300373
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... ORPHA:3144
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Generalized o... ORPHA:391487
Meckel Syndrome
Micrognathia, Pancreatic cysts, Asplenia, Talipes, Sclerocornea, Cystic liver disease, Bowing of ... ORPHA:564
Hennekam Syndrome
Pulmonary lymphangiectasia, Abnormal foot morphology, Pericardial effusion, Ascites, Lymphadenopa... ORPHA:2136
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Corneal perforation, Chronic active hepatitis, Normocytic anemia, Leu... ORPHA:289390
Cowden Syndrome 1
Micrognathia, Cataract, Subcutaneous lipoma, Lymphopenia, Palmoplantar hyperkeratosis OMIM:158350
Omphalocele, Bifid sternum, Sirenomelia, Congenital diaphragmatic hernia ORPHA:63260
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Metatarsus adductus, Absent hallux, Craniosynostosis, Cataract, Microcornea, Absent toe OMIM:608279
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Acute pancreatitis, Lymphopenia, Thrombocytopenia ORPHA:319218
Yunis-Varon Syndrome
Decreased calvarial ossification, Short metatarsal, Absent hallux, Aplastic clavicle, Aplasia/Hyp... OMIM:216340
Avian Influenza
Leukopenia, Hepatitis, Lymphopenia, Thrombocytopenia, Conjunctivitis ORPHA:454836
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Fulminant hepatitis, Lymphopenia, Thrombocytopenia, Anxiety ORPHA:319213
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Cushing Disease
Leukocytosis, Suicidal ideation, Dorsocervical fat pad, Osteoporosis, Truncal obesity, Emotional ... ORPHA:96253
Whim Syndrome
Neutropenia, Lymphadenitis, Tetralogy of Fallot, Lymphopenia, Cellulitis, Abnormality of neutroph... ORPHA:51636
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Leukemia, Hypoplasia of the thymus, Conjunctival telangiectasia, Decreased proportion of CD4-posi... OMIM:208900
Kinsship Syndrome
Micrognathia, Polydactyly, Failure to thrive, Fibular hypoplasia, Pes planus, Dislocated radial h... OMIM:619297
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... OMIM:182250
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Neoplasm of the thymus, Suicidal ideation, Dorsocervical fat pad, Pancreatic adenoc... ORPHA:99889
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Pes planus, Inguinal hernia, Narrow iliac wing, Uterine prolapse, ... OMIM:303600
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Pericarditis, Leukopenia, Neutrophilia in presence of infection, Lymphade... ORPHA:99826
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Failure to thrive, Finger syndactyly, Split hand, Postaxial hand polyda... ORPHA:2753
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Ventricular septal defect, Abnormal heart morphology, Small hand, Fibular hypoplasi... ORPHA:444077


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

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term hypoplasia Phf20l1em1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term dysplasia Phf20l1em1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phf20l1.

No publications found that use IMPC mice or data for Phf20l1.

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MGI Allele Allele Type Produced
Phf20l1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phf20l1em1(IMPC)Tcp Exon Deletion Mice

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