Gene Summary

ferritin light polypeptide 1
Ftl,  L-ferritin

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
short tibia Ftl1em1(IMPC)Rbrc HOM Early adult 5.80×10-08
abnormal circulating iron level Ftl1em1(IMPC)Rbrc HOM   Late adult 4.54×10-08
increased red blood cell distribution width Ftl1em1(IMPC)Rbrc HOM   Early adult 8.35×10-05
abnormal gait Ftl1em1(IMPC)Rbrc HOM   Early adult 4.41×10-06
abnormal tooth morphology Ftl1em1(IMPC)Rbrc HOM Early adult 3.48×10-15
abnormal tooth morphology Ftl1em1(IMPC)Rbrc HOM Late adult 1.06×10-13
abnormal behavior Ftl1em1(IMPC)Rbrc HOM Early adult 3.41×10-06
abnormal platelet cell number Ftl1em1(IMPC)Rbrc HOM   Late adult 9.32×10-05

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology


3 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Combined SHIRPA and Dysmorphology


2 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Ftl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ftl1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
L-Ferritin Deficiency
Decreased circulating ferritin concentration OMIM:615604
Difficulty walking ORPHA:157846
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Ataxia OMIM:606159
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration OMIM:600886
Hereditary Hyperferritinemia-Cataract Syndrome

The table below shows human diseases predicted to be associated to Ftl1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemochromatosis, Type 5
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... OMIM:615517
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Progressive leg bowing, Hip dysplasia, Short lower limbs, Gait disturbance, Metaphyse... ORPHA:2501
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition ORPHA:1094
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Syndactyly, Anisocytosis, Anemia ... OMIM:615631
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Coxa valga, Short 4th metacarpal, High palate, Abnormal carpal morphology... OMIM:127300
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... ORPHA:53693
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Hypoplasia of the ulna, Short femur, Narrow mouth, Aplasia/Hypoplasia ... OMIM:612447
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Orofaciodigital Syndrome Type 10
Retrognathia, Short tibia, Short toe, Mesomelic leg shortening, Long philtrum, Cleft soft palate,... ORPHA:2756
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
African Iron Overload
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... ORPHA:139507
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... ORPHA:300298
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate OMIM:300484
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormality of tibia m... ORPHA:1802
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Micrognathia, Foot po... OMIM:258860
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Decreased liver function, Abnormality... ORPHA:231222
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, High palate, Micrognathia, Clinodactyly, Shor... OMIM:201170
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Widely-spaced incisors, Tapered finger, Metaphy... OMIM:601668
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft mandible, Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Microgna... OMIM:268305
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... ORPHA:101330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Retrognathia, Wide mouth, Micrognathia, Camptodactyly, Anisocytosis, Rocker bottom foot OMIM:604273
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Primary Dystonia, Dyt13 Type
Jerky head movements, Abnormal repetitive mannerisms ORPHA:98807
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Orofaciodigital Syndrome Ix
Short tibia, High palate, Toe syndactyly, Camptodactyly, Hand polydactyly, Median cleft lip, Acce... OMIM:258865
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenu... ORPHA:2751
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... OMIM:156500
Pyle Disease
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... OMIM:265900
Brachydactyly, Type E2
Short metacarpal, Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal OMIM:613382
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, N... OMIM:227270
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Gingival bleeding, Increas... ORPHA:98870
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Hemochromatosis, Type 2B
Anemia, Increased serum iron, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Eleva... OMIM:613313
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Hepatic fibrosis, Cirrhosis, Aceruloplasminemia, Decreased circulating ceruloplasmin concentratio... ORPHA:48818
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Cleft pal... ORPHA:1106
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec... OMIM:231100
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Genu valgum, Mandibular prognathia, High palate, Pierre-Robin sequence, Coxa v... OMIM:618363
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... OMIM:616278
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Advanced pneumatization of cranial sinuses, Broad femoral head, Fibular ... ORPHA:85188
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron c... OMIM:614946
Neonatal Hemochromatosis
Micrognathia, Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Gait disturbance, Radioulnar synostosis, Abnormal palate morphology, Carious teeth, Abnormality o... ORPHA:3270
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Dominant Beta-Thalassemia
Genu valgum, Hypersplenism, Reduced hemoglobin A, Malar prominence, Hyperplasia of the maxilla, D... ORPHA:231226
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short philtrum, Short femur, Thin ... OMIM:607143
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... OMIM:273050
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Oslam Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormality of neutrophils, Carious teeth,... ORPHA:2760
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Lobulated tongue, Bifid tongue, Rhizomelia, Natal tooth, Short ribs, Short long bone... OMIM:616300
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Cleft palate, Orof... ORPHA:1505
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Plantar hyperkeratosis, Oral mucosal blis... OMIM:226650
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Eiken Syndrome
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... OMIM:600002
Hemochromatosis, Type 3
Anemia, Cirrhosis, Elevated transferrin saturation, Elevated hepatic transaminase, Lymphopenia, I... OMIM:604250
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... ORPHA:71275
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Delayed eruption of permanent teeth, Fibular bowi... OMIM:112350
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Short first metatarsal, Natal tooth, Short 1st metaca... OMIM:601957
Atelosteogenesis Type Iii
Short tibia, High palate, Patellar dislocation, Short tubular bones of the hand, Vertebral hypopl... ORPHA:56305
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long philtrum, Coxa vara, Micrognathia, Hip dysplasia, Preaxial ... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Trichorhinophalangeal Syndrome, Type Iii
Short phalanx of finger, Short metatarsal, Long philtrum, Avascular necrosis of the capital femor... OMIM:190351
Eem Syndrome
Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of den... ORPHA:1897
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Rubinstein-Taybi Syndrome 2
Retrognathia, Dental malocclusion, Talon cusp, Short 5th toe, Narrow palate, High palate, Short f... OMIM:613684
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements OMIM:300624
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Bifid tongue, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short lo... OMIM:613091
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short ... OMIM:608940
Shox-Related Short Stature
Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Fo... ORPHA:314795
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Orofaciodigital Syndrome X
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft pa... OMIM:165590
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... ORPHA:209919
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Microdontia, Pulp calc... OMIM:606895
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements ORPHA:382
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Widely spaced teeth, Angel-shaped phalanx, Flat acetab... OMIM:617102
Ophthalmomandibulomelic Dysplasia
Coxa valga, Temporomandibular joint ankylosis, Radial bowing, Lateral humeral condyle aplasia, Me... OMIM:164900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... OMIM:171480
Atelosteogenesis, Type Iii
Rhizomelia, Micrognathia, Radial bowing, Talipes equinovarus, Flat acetabular roof, Hitchhiker th... OMIM:108721
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements ORPHA:251282
Hemochromatosis, Type 4
Anemia, Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferr... OMIM:606069
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Long philtrum... OMIM:258315
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Very long chain fatty acid accumulation, Abnorm... ORPHA:247815
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Natal tooth, Short ribs, Short long bone, Micrognathia, Prea... OMIM:617925
Tibial Hemimelia
Absent tibia OMIM:275220
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... OMIM:616689
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Albers-Schönberg Osteopetrosis
Genu valgum, Anemia, Abnormal metacarpal morphology, Mandibular osteomyelitis, Short distal phala... ORPHA:53
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... OMIM:600785
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Mandibular prognathia, Anemia, Pancytopenia, Hepatosplenomegaly, Diaphyseal sclerosi... OMIM:259710
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... ORPHA:96334
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Genu valgum, Coxa valga, Carious teeth, Hypoplasia of teeth OMIM:613312
Dyggve-Melchior-Clausen Disease
Broad foot, Hypoplastic facial bones, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic n... OMIM:223800
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Portal inflammation, Elevated circulating alpha-fetoprotein concen... OMIM:619991
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Coxa valga, Natal tooth, Absent para... OMIM:269300
Seckel Syndrome 1
11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, High palate, Selective tooth agenesis, ... OMIM:210600
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth ORPHA:3145
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Preaxial foot polydactyly, Syndac... OMIM:603671
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Postaxial polysyndactyly of ... OMIM:263520
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Hepatomegaly, Sple... OMIM:602390
Cleidocranial Dysplasia 2
Genu valgum, Coxa valga, Delayed eruption of primary teeth, Aplastic clavicle, Delayed ossificati... OMIM:620099
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Cleft palate,... ORPHA:1452
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Huntington Disease-Like 1
Jerky head movements, Abnormal head movements ORPHA:157941
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... ORPHA:958
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... OMIM:307800
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... OMIM:613280
Narrow palate, Delayed eruption of primary teeth, Aplastic clavicle, Micrognathia, Hypodontia, Ab... OMIM:265800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... ORPHA:3035
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements ORPHA:240103
Anemia, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration OMIM:604290
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Long philtrum, Short 1st metacarpal, Bilateral cle... OMIM:164745
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic iron concentration OMIM:300868
Mucopolysaccharidosis Type 4
Genu valgum, Coxa valga, Wide mouth, Grayish enamel, Gait disturbance, Abnormal dental enamel mor... ORPHA:582
Kenny-Caffey Syndrome, Type 1
Anemia, Small hand, Short foot, Calvarial osteosclerosis, Slender long bone, Carious teeth, Short... OMIM:244460
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Cleft p... OMIM:108720
Kyphomelic Dysplasia
Cleft upper lip, Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowin... OMIM:211350
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Long philtrum, Short foot, Short ribs, Rhizomelia, Short long bone, Sm... OMIM:228520
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... ORPHA:79277
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Sandifer Syndrome
Anemia, Abnormal head movements ORPHA:71272
Camurati-Engelmann Disease
Coxa valga, Delayed eruption of teeth, Cortical thickening of long bone diaphyses, Splenomegaly, ... ORPHA:1328
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:352490
Foxg1 Syndrome
Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing ORPHA:561854
Childhood Absence Epilepsy
Jerky head movements, Punding ORPHA:64280
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Hyperphosphatemia, Calcinosis, Pulp calcification, Taurodontia OMIM:211900
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Retrognathia, Mandibular prognathia, Decreased serum iron, Downturned corners of mouth, Open mout... ORPHA:391372
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... OMIM:277170
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the mandible, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing,... ORPHA:85165
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Rothmund-Thomson Syndrome
Broad ulna, Anemia, Neutropenia, Selective tooth agenesis, Delayed eruption of teeth, Microdontia... ORPHA:2909
Camurati-Engelmann Disease
Genu valgum, Mandibular prognathia, Anemia, Cortical thickening of long bone diaphyses, Diaphysea... OMIM:131300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Acute hyperammonemia, Abnormal repetitive mannerisms, Hyperammonemia, Hepatomega... ORPHA:927
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... ORPHA:465508
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Long philtrum, Avascular necrosis of the capital femoral ... ORPHA:198
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Wide mouth, Preaxial foot polydactyly, Medi... ORPHA:1827
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Diaphyse... ORPHA:3144
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Short hall... ORPHA:90652
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the rad... OMIM:200980
Ogden Syndrome
Abnormal head movements ORPHA:276432
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... ORPHA:309854
Cousin Syndrome
2-3 toe syndactyly, Humeroradial synostosis, Micrognathia, Camptodactyly, Dislocated radial head,... OMIM:260660
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Median cle... ORPHA:2753
Mesomelia-Synostoses Syndrome
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Micrognathia, Ca... OMIM:600383
Campomelic Dysplasia
Irregular dentition, Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metat... OMIM:114290
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Hypoplastic inferior ilia, Micrognathia, Hip dislocation, Femo... ORPHA:140
Portal hypertension, Hypokalemia, Hypophosphatemia, Abnormal repetitive mannerisms ORPHA:213
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Medi... OMIM:236680
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Behavioral Variant Of Frontotemporal Dementia
Collectionism, Abnormal repetitive mannerisms ORPHA:275864
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, Long philtrum, Wide mo... OMIM:222470
Kinsship Syndrome
Polydactyly, Mandibular prognathia, Coxa valga, Wide mouth, Widely spaced teeth, Thick lower lip ... OMIM:619297
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Dental malocclusion, Cleft upper lip, Pierre-Robin sequence, High pal... OMIM:300373
Christianson Syndrome
Abnormal repetitive mannerisms ORPHA:85278
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Ankyloglossia, Decreased plasma carnitine, Decreased serum iron, Narrow mouth, Carious te... ORPHA:89842
Cranioectodermal Dysplasia 1
Microdontia, Everted lower lip vermilion, Radial deviation of finger, Flattened epiphysis, Short ... OMIM:218330
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Hepatosplenomegaly ORPHA:397612
Abnormal circulating tryptophan concentration, Abnormal repetitive mannerisms ORPHA:79155
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Rett Syndrome
Stereotypical hand wringing, Abnormal repetitive mannerisms, Cholecystitis, Hyperammonemia, Incre... ORPHA:778
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms ORPHA:208447
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:238750
Hemochromatosis, Type 1
Splenomegaly, Increased circulating ferritin concentration, Increased serum iron OMIM:235200
Alazami Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms ORPHA:79264
48,Xxyy Syndrome
Abnormal repetitive mannerisms ORPHA:10
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Cleft palat... OMIM:304120
Transketolase Deficiency
Elevated circulating ribitol concentration, Hepatomegaly, Abnormal repetitive mannerisms, Compuls... ORPHA:488618
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, High nonceruloplasmin-bound serum copper, Abnormal repetitive mannerisms ORPHA:457351
2Q23.1 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228402
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms ORPHA:457240
Developmental And Speech Delay Due To Sox5 Deficiency
Abnormal repetitive mannerisms ORPHA:313892
Syndromic Diarrhea
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of iron homeostasis, Abnormali... ORPHA:84064
Singleton-Merten Syndrome 1
Osteolytic defects of the phalanges of the hand, Hip subluxation, Eruption failure, Genu valgum, ... OMIM:182250
Inverted Duplicated Chromosome 15 Syndrome
Abnormal repetitive mannerisms ORPHA:3306
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal repetitive mannerisms, Hypercholesterolemia ORPHA:819
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms ORPHA:530983
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:476126
Trichohepatoenteric Syndrome 2
Decreased serum iron OMIM:614602
22Q11.2 Duplication Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms ORPHA:572013
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Obsessive-compulsive trait ORPHA:168491
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Hypercholesterolemia ORPHA:2479
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Lacrimoauriculodentodigital Syndrome 1
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... OMIM:149730
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Ulbright-Hodes Syndrome
Short sternum, High palate, Humeroradial synostosis, Short ribs, Short metacarpal, Micrognathia, ... ORPHA:3404
Charge Syndrome
Cleft upper lip, Hand monodactyly, Bilateral talipes equinovarus, Micrognathia, Absent tibia, Han... OMIM:214800
2Q37 Microdeletion Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent hand flapping, Abnormal repetitive mannerisms ORPHA:449291
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:435638
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Elevated circulating creatine kinase concentration ORPHA:496641
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal repetitive mannerisms ORPHA:300570
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms ORPHA:98784
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms ORPHA:457279
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:261197
White-Sutton Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:468678
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, High palate, Long philtrum, Small hand, Micrognathia, Macroglossia, Thin upper l... ORPHA:444077
Kleefstra Syndrome
Abnormal repetitive mannerisms ORPHA:261494
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Anemia, Hypophosphatemia, Hypokalemia, Abnormal repetitive mannerisms, Comp... ORPHA:534
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:177907
7Q11.23 Microduplication Syndrome
Collectionism, Abnormal repetitive mannerisms ORPHA:96121
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms ORPHA:522077
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Abnormal repetitive mannerisms ORPHA:508498
Wiedemann-Steiner Syndrome
Abnormal repetitive mannerisms ORPHA:319182
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms ORPHA:464311
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal repetitive mannerisms ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:464306
Mucopolysaccharidosis Type 2
Splenomegaly, Abnormal repetitive mannerisms, Hepatomegaly ORPHA:580
1P36 Deletion Syndrome
Abnormality of the liver, Abnormal repetitive mannerisms, Hepatic steatosis, Annular pancreas, Ab... ORPHA:1606
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Repetitive compulsive behavior, Abnormal repetitive mannerisms ORPHA:513456
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Retrognathia, Anemia, Decreased serum iron, Deep philtrum ORPHA:438213
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Abnormal repetitive mannerisms ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:353277
Nmda Receptor Encephalitis
Abnormal repetitive mannerisms ORPHA:217253
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Abnormal repetitive mannerisms, Bruxism ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Abnormal repetitive mannerisms, Bruxism ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Abnormal repetitive mannerisms, Bruxism ORPHA:261552
Norrie Disease
Abnormal repetitive mannerisms ORPHA:649
L-Ferritin Deficiency
Decreased circulating ferritin concentration OMIM:615604
Difficulty walking ORPHA:157846
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Ataxia OMIM:606159
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration OMIM:600886
Hereditary Hyperferritinemia-Cataract Syndrome


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

There is no histopathology data for Ftl1

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 Ftl1.

No publications found that use IMPC mice or data for Ftl1.

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MGI Allele Allele Type Produced
Ftl1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ftl1em1(IMPC)Rbrc Indel Mice

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