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
increased red blood cell distribution width Ftl1em1(IMPC)Rbrc HOM   Early adult 8.35×10-05
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
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
abnormal tooth morphology Ftl1em1(IMPC)Rbrc HOM Early adult 3.48×10-15
abnormal gait Ftl1em1(IMPC)Rbrc HOM   Early adult 4.41×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Combined SHIRPA and Dysmorphology


3 Images


XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology


2 Images

Eye Morphology

Images Ophthalmoscopy

3 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
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Choreoathetosis, Decreased circulating ferritin concentration, Blepharospasm, Brady... OMIM:606159
Parkinsonism, Resting tremor, Decreased circulating ferritin concentration, Blepharospasm, Involu... ORPHA:157846
L-Ferritin Deficiency
Decreased circulating ferritin concentration OMIM:615604
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration ORPHA:254704
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
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Malar flattening, Limb undergrowth, Short... OMIM:118651
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements, Abnormal head movements OMIM:616939
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th... ORPHA:1972
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... ORPHA:2501
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Anonychia-Microcephaly Syndrome
Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition ORPHA:1094
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Leri-Weill Dyschondrosteosis
High palate, Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral nec... OMIM:127300
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor, Jerky head ... ORPHA:98807
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... ORPHA:93323
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Increased circulating ferritin concentration, Parkinsonism, Decreased serum iron, Blepharospasm, ... ORPHA:48818
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Thin vermili... OMIM:612447
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Hypoplasia of proximal radius, Long philtrum, Cleft soft palate, Preaxia... ORPHA:2756
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity, Limb ata... ORPHA:251282
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... OMIM:258860
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Decreased liver funct... ORPHA:231222
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, Clinodactyly, High palate, Short philtrum, Fibular hypoplasia, 11 pairs of ribs, Tr... OMIM:201170
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Abnormal circulating phytanic acid concentration, Progressive cerebellar... ORPHA:247815
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Dentinogenesis Imperfecta
Finger joint hypermobility, Knee joint hypermobility, Abnormal dental pulp morphology, Odontodysp... ORPHA:49042
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... OMIM:601668
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... OMIM:268305
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Stuve-Wiedemann Syndrome 1
Talipes, Smooth tongue, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefact... OMIM:601559
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia o... OMIM:227270
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Episodic Ataxia Type 4
Incoordination, Ataxia, Frequent falls, Abnormal head movements ORPHA:79136
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Hypermanganesemia With Dystonia 1
Abnormality of extrapyramidal motor function, Parkinsonism, Polycythemia, Spastic paraparesis, Br... OMIM:613280
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Increased mean corpuscular volume,... ORPHA:98870
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Mesomelic leg shortening, Micrognathia, Hama... ORPHA:2751
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Orofaciodigital Syndrome Ix
Accessory oral frenulum, Toe syndactyly, High palate, Hand polydactyly, Short tibia, Abnormality ... OMIM:258865
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Brachydactyly, Type E2
Brachydactyly, Delayed eruption of teeth, Short metacarpal, Oligodontia, Short metatarsal OMIM:613382
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Amelogenesis imperfecta, Pierre-Robin... OMIM:618363
Increased circulating ferritin concentration, Decreased serum iron, Blepharospasm, Aceruloplasmin... OMIM:604290
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... OMIM:129540
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Brachydactyly, Abnormality of pelvic girdle bone morphology, Persistence of primary teeth, Osteol... OMIM:265800
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Microcephaly-Micromelia Syndrome
Narrow mouth, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial sy... OMIM:251230
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... ORPHA:85188
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Micrognathia ORPHA:446
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short ... OMIM:607143
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Broad hallux, Micrognathia, Increased overbite, Retrognathia, Broad t... OMIM:613684
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Abnormal foot morphology, Hypodontia, Carious teeth, Plantar hyperkeratosi... OMIM:226650
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Dominant Beta-Thalassemia
Bowing of the long bones, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration... ORPHA:231226
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Alveolar process hypoplasia, Maxillozygomatic hypoplasia, ... OMIM:273050
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements OMIM:245348
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Eiken Syndrome
Clinodactyly, Delayed ossification of carpal bones, Fibular hypoplasia, Broad femoral neck, Multi... OMIM:600002
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements,... ORPHA:382
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Carious teeth, Radioulnar synostosis, Gait disturbance, Abnormality o... ORPHA:3270
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Atelosteogenesis Type Iii
High palate, Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the hum... ORPHA:56305
Hypophosphatasia, Childhood
Bowing of the legs, Carious teeth, Premature loss of primary teeth, Waddling gait OMIM:241510
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Hyperkalemia, Thrombocytopenia OMIM:141000
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Oslam Syndrome
Clinodactyly of the 5th finger, Carious teeth, Abnormality of neutrophils, Radioulnar synostosis,... ORPHA:2760
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Oligodontia, Microdontia, Supe... OMIM:191482
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Short distal phalanx of toe, Natal tooth, Short distal phalanx of finger, Short 1s... OMIM:601957
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... ORPHA:71275
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Delayed eruption of permanen... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Eem Syndrome
Finger syndactyly, Microdontia, Widely spaced teeth, Carious teeth, Ectrodactyly, Abnormality of ... ORPHA:1897
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... OMIM:190351
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxial foot polydactyly, Abnormali... ORPHA:1988
Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Abnormality of long bone morph... ORPHA:356961
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Cleft upper lip, Fibular hypoplasia, Shor... OMIM:613091
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Shox-Related Short Stature
High palate, Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, ... ORPHA:314795
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Retro... OMIM:165590
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Pulp calcificat... OMIM:606895
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping OMIM:300624
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Recurrent hand flapping OMIM:309548
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Persistence of primary teeth, Carious tee... OMIM:259710
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Recurrent hand flapping ORPHA:100973
Ophthalmomandibulomelic Dysplasia
Coxa valga, Temporomandibular joint ankylosis, Fibular hypoplasia, Ulnar deviated club hands, Lat... OMIM:164900
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Median cleft palate, Patellar hypoplasia, Absent tibia, Talipes eq... OMIM:119800
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Cleft upper lip, Hand oligodactyly, Postaxial foot polydactyly, Fibu... OMIM:206920
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum OMIM:613312
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Atelosteogenesis, Type Iii
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Micrognathia, ... OMIM:108721
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... ORPHA:209919
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Mi... OMIM:617925
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia OMIM:212050
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Palmoplantar keratoderma, Premature loss of teeth OMIM:161000
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Omodysplasia 1
Long philtrum, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, ... OMIM:258315
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Ataxia, Abnormali... ORPHA:2585
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Decreased circulating ferritin concentration, Increased total iron binding capacit... ORPHA:309854
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tibial Hemimelia
Absent tibia OMIM:275220
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Albers-Schönberg Osteopetrosis
Abnormality of epiphysis morphology, Carious teeth, Abnormal leukocyte morphology, Anemia, Short ... ORPHA:53
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Long philtrum, Metaphyseal spurs, Tented upper lip ... ORPHA:96334
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hepatomegaly, Elevated hepatic iron concentration, Spasticity, Cirrhosis, ... OMIM:300868
Craniometadiaphyseal Dysplasia
Genu varum, Absent paranasal sinuses, High palate, Coxa valga, Microdontia, Carious teeth, Flared... OMIM:269300
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Seckel Syndrome 1
Pancytopenia, High palate, Dental malocclusion, Hypoplasia of proximal radius, Talipes, Enamel hy... OMIM:210600
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, 2-4 toe cutaneous syndactyly, Long philtrum, Delayed eruption of teeth, 4-5 finger ... OMIM:257850
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cirrhosis, Increased se... OMIM:602390
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Poor coordination, Recurrent hand flapping OMIM:619717
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Foxg1 Syndrome
Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Spasticity, Hyperkinetic movement... ORPHA:561854
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ataxia, To... ORPHA:3095
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Micrognathi... ORPHA:1452
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypertonia, Hypoproteinemia, Hyponatremia, Leukopen... OMIM:267700
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Spasticity, Babinski sign ORPHA:280763
Trichorhinophalangeal Syndrome, Type I
Flat capital femoral epiphysis, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the ... OMIM:190350
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Splenomegaly, Microgna... ORPHA:3035
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Enamel hypoplasia, Non-midline ... ORPHA:2919
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Aplasia/Hypoplasia of the tongue, High palate, Hypoplasia of the ulna, Finger... ORPHA:958
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Leber Congenital Amaurosis 1
Eye poking, Hyperthreoninemia, Hepatomegaly OMIM:204000
Sandifer Syndrome
Torticollis, Anemia, Abnormal head movements ORPHA:71272
Autosomal Recessive Non-Syndromic Intellectual Disability
Spasticity, Chorea, Motor stereotypy ORPHA:88616
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, High palate, Narrow mouth, Tibial bowing, Deep ... OMIM:245160
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Delay... OMIM:277440
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Cleft upper lip, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus... OMIM:601027
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Motor stereotypy, Cerebral palsy, Spasticity, Hypertonia ORPHA:352490
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Abnormality of epiphysis morphology, Carious teeth, Abnorma... ORPHA:582
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... OMIM:304120
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Cleft palate, Brachydactyly, Malar... OMIM:108720
Kenny-Caffey Syndrome, Type 1
Short palm, Carious teeth, Anemia, Small hand, Slender long bone, Calvarial osteosclerosis, Short... OMIM:244460
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Hepatomegaly, Ataxia, Hyperglutaminemia, Paraplegia, Acute hyperammonemia, Hype... ORPHA:927
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Hypoplastic iliac wing, Short... OMIM:210720
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Fasciculations, Abnormality of extrapyramidal motor function, Mot... ORPHA:275864
Childhood Absence Epilepsy
Punding, Limb myoclonus, Jerky head movements ORPHA:64280
Fibrochondrogenesis 1
Narrow mouth, Hypoplastic ischia, Short palm, Long philtrum, Fibular hypoplasia, Posterior verteb... OMIM:228520
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Anemia, Patellar dis... OMIM:274000
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Abnormal palate morphology, Abnormality of epiphysis mor... ORPHA:1798
Kyphomelic Dysplasia
Cleft upper lip, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromel... OMIM:211350
Congenital Erythropoietic Porphyria
Erythrodontia, Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, R... ORPHA:79277
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Calcinosis, Hyperphosphatemia, Taurodontia OMIM:211900
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Persistenc... ORPHA:231214
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping OMIM:618859
Camurati-Engelmann Disease
Abnormality of the ulna, Craniofacial osteosclerosis, Pes planus, Anemia, Abnormality of the hume... ORPHA:1328
Ogden Syndrome
Torticollis, Abnormal head movements, Hypertonia ORPHA:276432
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Open mouth, Retrognathia, Mandibular prognathia, Downturned corners of mout... ORPHA:391372
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Stereotypical hand wringing, Spasticity, Chorea OMIM:618917
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Tremor, Poor coordination, Recurrent hand flapping ORPHA:544254
Abnormal pyramidal sign, Hypokalemia, Portal hypertension, Motor stereotypy, Hypophosphatemia ORPHA:213
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Poor motor coordination, Clumsiness, Poor fine ... ORPHA:79264
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Fibular bowing, ... ORPHA:85165
Camurati-Engelmann Disease
Diaphyseal sclerosis, Carious teeth, Anemia, Mandibular prognathia, Cortical thickening of long b... OMIM:131300
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Spasticity ORPHA:208447
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Leukemia, Delayed eruption of teeth, Microdontia, Short thumb, Metaphysea... ORPHA:2909
Christianson Syndrome
Gait ataxia, Truncal ataxia, Motor stereotypy ORPHA:85278
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Rett Syndrome
Motor stereotypy, Stereotypical hand wringing, Cholecystitis, Increased serum pyruvate, Bradykine... ORPHA:778
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Portal hypertension, Cirrhosis, Cholangiocarcinoma,... ORPHA:465508
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Metaphyseal sclerosis, Microdontia, Anemia, Plantar hyperkerato... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Metaphyseal sclerosis, Microdontia, Anemia, Plantar hyperkerato... ORPHA:221008
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Tremor, Hyperkinetic movements, Motor stereotypy ORPHA:457240
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Melnick-Needles Syndrome
Coxa valga, Delayed eruption of teeth, Pes planus, Cone-shaped epiphyses of the phalanges of the ... OMIM:309350
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Long philtrum, Fibular hypoplasia, Pes planus, 11... OMIM:114290
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Micrognathia, Cleft palate, Synostosis of carpal bones, Bowing of... ORPHA:90652
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Cdkl5-Deficiency Disorder
Stereotypical hand wringing ORPHA:505652
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proxima... OMIM:236680
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, High palate, Missing ribs, Foot polydactyly, Hypoplasia of th... OMIM:200980
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Long philtrum, Absent tibia, Pes planus, Aplastic clavicle... ORPHA:198
Abnormal circulating tryptophan concentration, Hypertonia, Motor stereotypy ORPHA:79155
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Repetitive compulsive behavior, Action tremor, Normochromic mic... ORPHA:66634
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Motor stereotypy ORPHA:411986
Acromelic Frontonasal Dysplasia
Median cleft palate, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Wide mouth, Talipes eq... ORPHA:1827
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Fibular hypoplasia, 11 pairs of ribs, Tibial... ORPHA:140
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping OMIM:617268
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Spasticity, Chorea, Motor stereotypy ORPHA:178469
Orofaciodigital Syndrome Type 4
Genu varum, Bifid uvula, Abnormality of the tongue, Micrognathia, High, narrow palate, Micromelia... ORPHA:2753
Cranioectodermal Dysplasia 1
Clinodactyly, Fibular hypoplasia, Everted lower lip vermilion, Widely spaced teeth, Microdontia, ... OMIM:218330
Corneodermatoosseous Syndrome
Brachydactyly, Palmoplantar keratoderma, Short palm, Carious teeth, Abnormal dental enamel morpho... ORPHA:3194
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Trichohepatoenteric Syndrome 1
Narrow mouth, Bifid uvula, Long philtrum, Thrombocytosis, Hypermethioninemia, Abnormality of iron... OMIM:222470
4Q21 Microdeletion Syndrome
Tremor, Motor stereotypy ORPHA:238750
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Myoclonus, Hypertonia ORPHA:289266
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Camptodactyly Syndrome, Guadalajara, Type I
Bifid uvula, Fibular hypoplasia, Abnormality of dental eruption, Twelfth rib hypoplasia, Hypoplas... OMIM:211910
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Carious teeth, Ataxia, Thrombocytopenia, Anemia, Aplastic anemia, Premature los... OMIM:127550
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Motor stereotypy ORPHA:391307
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Macrocephaly-Developmental Delay Syndrome
Hepatosplenomegaly, Motor stereotypy ORPHA:397612
48,Xxyy Syndrome
Tremor, Ataxia, Motor stereotypy ORPHA:10
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Blepharospasm, Limb hypertonia, Athetosis, Tongue thrusting, Limb tremor, Exagge... OMIM:608643
Lamb-Shaffer Syndrome
Upper motor neuron dysfunction, Ataxia, Motor stereotypy ORPHA:530983
Osteopathia Striata With Cranial Sclerosis
Pierre-Robin sequence, High palate, Dental malocclusion, Bifid uvula, Cleft upper lip, Paranasal ... OMIM:300373
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Limb hypertonia, Spasticity, High nonceruloplasmin-bound serum copper, Thromboc... ORPHA:457351
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Kinsship Syndrome
Short philtrum, Coxa valga, Gingival overgrowth, Fibular hypoplasia, Pes planus, Dislocated radia... OMIM:619297
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Decreased serum zinc, Decreased serum iron, Carious teeth, Decreased plasma carniti... ORPHA:89842
Alazami Syndrome
Stereotypical hand wringing, Motor stereotypy ORPHA:319671
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Expanded phalanges with widened medullary cavities, Expanded... OMIM:182250
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Motor stereotypy, Ataxia, Spasticity, Myoclonus ORPHA:168491
2Q23.1 Microdeletion Syndrome
Ataxia, Motor stereotypy ORPHA:228402
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Phocomelia, Short sternum, Short ribs, Short metacarpal, Hypoplasia of... OMIM:266910
Pyruvate Carboxylase Deficiency
Hypernatremia, Abnormal pyramidal sign, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increas... ORPHA:3008
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping OMIM:615516
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Elevated circulating creatine kinase concent... ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Ataxia OMIM:614104
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased serum iron, Splenomegaly OMIM:235200
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... ORPHA:3472
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy ORPHA:3306
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Tremor, Hypercalcemia, Motor stereotypy ORPHA:476126
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy ORPHA:313892
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Choreoathetosis, Limb hypertonia, Ataxia, Recurrent hand flapping, Gait ataxia, Ton... OMIM:619580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Thrombocytosis, Splenomegaly, Hepatomegaly, Abnormality... ORPHA:84064
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia, Hypercholesterolemia ORPHA:2479
Transketolase Deficiency
Motor stereotypy, Hepatomegaly, Elevated circulating ribitol concentration ORPHA:488618
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, Tremor ORPHA:98794
Smith-Magenis Syndrome
Motor stereotypy, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Lower limb spasticity, Ataxia, Rigidity, Progressive spasticity, ... OMIM:300260
Trichohepatoenteric Syndrome 2
Decreased serum iron OMIM:614602
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic tetraplegia, Motor stereotypy, Spasticity, Torticollis, Oculomotor apraxia, Spastic ataxi... ORPHA:300570
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Repetitive compulsive behavior, Choreoathetosis, Motor stereotypy, Athetoid cerebr... ORPHA:522077
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Lower limb spasticity, Ataxia, Hepatomegaly, Cerebral palsy ORPHA:163681
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Tremor, Speech apraxia, Recurrent hand flapping OMIM:619680
Proximal 16P11.2 Microdeletion Syndrome
Paroxysmal dyskinesia, Choreoathetosis, Speech apraxia, Motor stereotypy ORPHA:261197
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Opisthotonus, Hypereosinophilia, Motor stereotypy, Decreased proportion of CD4... ORPHA:508533
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Ataxia, Recurrent hand flapping ORPHA:411511
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Stereotypical body rocking ORPHA:293939
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Motor stereotypy ORPHA:98784
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, A... ORPHA:447
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
3P25.3 Microdeletion Syndrome
Ataxia, Motor stereotypy ORPHA:435638
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Spasticity ORPHA:401777
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertonia, Ataxia, Recurrent hand flapping OMIM:300986
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
22Q11.2 Duplication Syndrome
Motor stereotypy ORPHA:1727
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent hand flapping, Motor stereotypy ORPHA:449291
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Choreoathetosis, Decreased circulating ferritin concentration, Blepharospasm, Brady... OMIM:606159
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the ulna, Absent radius, Bilateral triphalangeal thumbs, Enamel hypoplasia, Clinoda... OMIM:149730
Kohlschutter-Tonz Syndrome-Like
Stereotypical hand wringing, Lower limb spasticity, Ataxia, Spasticity, Upper limb spasticity, My... OMIM:619229
Intellectual Developmental Disorder, X-Linked 98
Stereotypical hand wringing, Lower limb spasticity, Ataxia, Recurrent hand flapping, Stereotypica... OMIM:300912
Ulbright-Hodes Syndrome
Narrow mouth, High palate, Abnormal forearm bone morphology, Phocomelia, Short sternum, Short rib... ORPHA:3404
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Motor stereotypy ORPHA:457279
Charge Syndrome
Bilateral talipes equinovarus, Hypoplasia of the ulna, Cleft upper lip, Absent radius, Absent tib... OMIM:214800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Repetitive compulsive behavior, Parkinsonism OMIM:607485
Rett Syndrome, Congenital Variant
Apraxia, Athetosis, Tongue thrusting, Spasticity, Chorea OMIM:613454
2Q37 Microdeletion Syndrome
Motor stereotypy ORPHA:1001
Angelman Syndrome
Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, Tremor ORPHA:72
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping ORPHA:352577
21Q22.11Q22.12 Microdeletion Syndrome
Tongue thrusting, Stereotypical body rocking, Thrombocytopenia, Anemia ORPHA:261323
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting ORPHA:98795
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis OMIM:619179
Kleefstra Syndrome
Motor stereotypy ORPHA:261494
White-Sutton Syndrome
Incoordination, Motor stereotypy ORPHA:468678
Cardiofaciocutaneous Syndrome 1
Tongue thrusting, Oculomotor apraxia, Splenomegaly, Hypertonia OMIM:115150
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Motor stereotypy, Hypoammonemia, Anemia, Clonus,... ORPHA:534
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Repetitive compulsive behavior, Spastic tetraplegia, Intention tremor, Isometr... OMIM:619475
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Motor stereotypy, Spasticity, Hyperkinetic movements, Hypertonia ORPHA:468631
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Motor stereotypy, Lower limb spasticity, Clonus, Hypertonia ORPHA:447997
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, High palate, Hypoplasia of proximal radius, Long philtrum, Fibular hypoplasia, Mic... ORPHA:444077
7Q11.23 Microduplication Syndrome
Dysmetria, Motor stereotypy ORPHA:96121
Stereotypical hand wringing, Impaired lymphocyte transformation with phytohemagglutinin ORPHA:79329
Phelan-Mcdermid Syndrome
Tongue thrusting OMIM:606232
Nmda Receptor Encephalitis
Opisthotonus, Choreoathetosis, Motor stereotypy, Involuntary movements, Rigidity, Chorea, Myoclonus ORPHA:217253
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping OMIM:615485
Tremor, Ataxia, Hepatomegaly, Anemia, Elevated hepatic transaminase, Stereotypical body rocking, ... ORPHA:86309
Prader-Willi Syndrome Due To Translocation
Motor stereotypy ORPHA:177907
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Motor stereotypy ORPHA:508498
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy ORPHA:464311
Parkinsonism, Resting tremor, Decreased circulating ferritin concentration, Blepharospasm, Involu... ORPHA:157846
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy ORPHA:464306
Wiedemann-Steiner Syndrome
Motor stereotypy ORPHA:319182
Mucopolysaccharidosis Type 2
Splenomegaly, Hepatomegaly, Motor stereotypy ORPHA:580
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Motor stereotypy, Abnormality of the spleen, Annular... ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Stereotypical hand wringing, Involuntary movements, Anemia, Exaggerated sta... ORPHA:438213
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Hemiparesis ORPHA:369950
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Stereotypical hand wringing, Ataxia, Hypertonia ORPHA:268261
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Hypocalcemia, Hemolytic ... OMIM:619503
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Hepatic cysts ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy ORPHA:353281
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy ORPHA:353284
Norrie Disease
Hypertonia, Clonus, Motor stereotypy ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Poor fine motor coordination, Spasticity, Asplenia, Motor stereotypy ORPHA:261537
Mowat-Wilson Syndrome
Ataxia, Spasticity, Asplenia, Motor stereotypy ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Spasticity, Asplenia, Motor stereotypy ORPHA:261552
L-Ferritin Deficiency
Decreased circulating ferritin concentration OMIM:615604
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration ORPHA:254704
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter