Gene Summary

Name:
calpain 10
Synonyms:
Capn8

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Capn10tm1b(EUCOMM)Wtsi HOM Early adult 1.22×10-09
increased circulating bilirubin level Capn10tm1b(EUCOMM)Wtsi HOM Early adult 3.13×10-05
abnormal cholesterol homeostasis Capn10tm1b(EUCOMM)Wtsi HOM Early adult 7.20×10-07
increased circulating phosphate level Capn10tm1b(EUCOMM)Wtsi HOM   Early adult 4.48×10-05
hyperactivity Capn10tm1b(EUCOMM)Wtsi HOM Early adult 3.02×10-07

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Capn10 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Capn10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Short metacarpal OMIM:603233
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu ... OMIM:619073
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Short distal phalanx of finger OMIM:241519
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Malaria
Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Immunodeficiency 8
Hyperactivity OMIM:615401
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Pseudohypoparathyroidism, Type Ia
Short toe, Short metatarsal, Short finger, Hypocalcemic tetany, Short metacarpal, Brachydactyly, ... OMIM:103580
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening OMIM:617994
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Short palm, Small hand, Short foot, Micrognathia, Hyperphosphatemia, Hypocalcemic s... OMIM:241410
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Hypocalcemic tetany, Short metacarpal, Brachydactyly, Hyperphosphatemia OMIM:612462
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Cortical subperiosteal resorption of humeral metaphyses, Hypocalcemic tetany, Laryn... ORPHA:94089
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Clinodactyly, Micrognathia, Radial deviation of finger OMIM:608747
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hypophosphatemic Bone Disease
Hypophosphatemia, Bowing of the legs OMIM:146350
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormal... ORPHA:95717
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Bowing of the long bones, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Difficu... OMIM:600081
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Short fifth metatarsal, Short 3rd metacarpal, Short metatarsal, Short 4th metacarpa... ORPHA:79444
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Long hal... OMIM:101800
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Dystonia, Bradykinesia, Steppage gait, Unconjugated hyperb... OMIM:613280
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Dystonia OMIM:616299
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Sanjad-Sakati Syndrome
Hypocalcemia, Small hand, Short foot, Micrognathia, Hyperphosphatemia ORPHA:2323
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Hypermethioninemia Due To Adenosine Kinase Deficiency
Narrow foot, Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Short fifth metatarsal, Short 3rd metacarpal, Broad 1st metacarpal, Short metatarsa... ORPHA:79443
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Difficu... OMIM:241530
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Short metatarsal, Short phalanx of finger, Absent/hypoplastic paranasal sinuses, Co... ORPHA:280651
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Enlargement o... OMIM:264700
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hyperprolinemia OMIM:239500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Enlargement o... OMIM:277440
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short foot, Small hand, Hyperactivity, Talipes equinovarus, Hip dislocation OMIM:300434
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient hypophosphatemia, ... OMIM:127000
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Hypopho... OMIM:300554
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Abnormal pelvis bone morphology,... ORPHA:352540
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Me... OMIM:156400
Slc35A2-Cdg
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation,... ORPHA:356961
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Gait disturbance, Coarse metaphyseal trabecularizati... ORPHA:93160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Abnormality of the lower limb OMIM:193100
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Familial Thyroid Dyshormonogenesis
Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, ... ORPHA:95716
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Clinodactyly, Neonatal hyperbilirubinemia, Hyperactivity, Clinodactyly of the 5th f... ORPHA:73272
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Toe syndactyly, Talipes, Genu recurvatum, Short metacarpal ORPHA:2611
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Pes cavus, Hyperactivity OMIM:609727
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Pes cavus ORPHA:101009
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Hypophosphatemic rickets OMIM:618913
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Writer's cramp ORPHA:428
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Abnormal foot morphology, Metaphyseal irregularity OMIM:269920
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hip bone morphology, Hyperphosphatemia ORPHA:457059
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Bowing of the legs ORPHA:89937
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enlargement of the ankles, Subperiosteal bone resorption, Difficu... ORPHA:289157
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity... ORPHA:93325
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Ataxia ORPHA:713
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Hyperbilirubinemia, Attention deficit hyperactivity disorder OMIM:619075
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Distal Xq28 Microduplication Syndrome
Clinodactyly, Neonatal hyperbilirubinemia, Metatarsus adductus, Tip-toe gait, Attention deficit h... ORPHA:293939
Opsismodysplasia
Hypophosphatemia, Squared iliac bones, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, H... OMIM:258480
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Dent Disease 1
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Tibial ... OMIM:300009
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Ataxia, Dystonia OMIM:612716
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Clinodactyly of the 5th finger, Tapered finger, Long fingers OMIM:609425
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyponatremia, Metaphyseal dysplasia, Hypoalbuminemia, Hyp... ORPHA:1667
Tibial Hemimelia
Absent tibia OMIM:275220
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Hypocalcemia, Hyperbilirubinemia, Flared metaphysis OMIM:259720
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Lethargy, Decreased plasma total carnitine, Tapered toe, Decreased pla... OMIM:608836
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Pyruvate Carboxylase Deficiency
Dystonia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutami... ORPHA:3008
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormality of ... ORPHA:90674
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Steppage gait, Hyperbilirubinemia, Steatorrhea, Hypocholesterol... ORPHA:14
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, ... ORPHA:90673
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Fraxe Intellectual Disability
Clinodactyly of the 5th finger, Hyperactivity ORPHA:100973
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hip dysplasia, Talipes calcaneovalgus, Conjugated hyperbilirubinemia OMIM:613404
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mental Retardation, Autosomal Dominant 43
Tapered finger, Hyperactivity OMIM:616977
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Hyperactivity, Genu valgum, Rhizomelia, Short long bone, Abnormal femoral ... ORPHA:239
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foot morphology OMIM:236640
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Fibrous Dysplasia Of Bone
Hypophosphatemia, Lower limb asymmetry, Abnormality of tibia morphology, Abnormality of femur mor... ORPHA:249
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
X-Linked Hypophosphatemia
Hypophosphatemia, Genu valgum, Sacroiliac joint synovitis, Flared iliac wing, Abnormality of epip... ORPHA:89936
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Talipes calcaneovalgus, Hip dysplasia, Conjugated hyperbilirubinemia OMIM:208085
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, 2-3 toe syndactyly, Limb underg... OMIM:616809
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Rubinstein-Taybi Syndrome 2
Broad thumb, Broad hallux, Syndactyly, Hyperactivity, Micrognathia OMIM:613684
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Omodysplasia 1
Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus, Limited knee flexio... OMIM:258315
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Alazami-Yuan Syndrome
Broad hallux, Hyperactivity OMIM:617126
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Rocker bottom foot, Short 5th finger, Pes planus, Hyperbilirubinemia, 2-3 toe synda... ORPHA:163979
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Gand Syndrome
Hyperactivity, Long toe, Long fingers OMIM:615074
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Mental Retardation, Autosomal Recessive 61
Talipes equinovarus, Tapered finger, Pes cavus, Hyperactivity OMIM:617773
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Sandal gap, Clinodactyly, Small hand, Short foot, Hyperactivity, Tapered finger OMIM:618089
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Clark-Baraitser Syndrome
Hyperactivity, Clinodactyly, Sandal gap OMIM:617752
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Elevated circulating gamma-aminobutyric acid concentration OMIM:271980
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cystinosis
Hypophosphatemia, Gait disturbance, Hypokalemia ORPHA:213
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short ribs, Short long bone,... OMIM:617925
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Fructose Intolerance, Hereditary
Hypophosphatemia, Lethargy, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Short metacarpal, Hyperactivity... OMIM:614613
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, 2-3 toe syndactyly, Hyperac... OMIM:300960
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Ck Syndrome
Microretrognathia, Long toe, Hyperactivity, Long fingers ORPHA:251383
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Clinodactyly of t... ORPHA:96334
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Metaphyseal irregularity OMIM:239200
Hereditary Spherocytosis
Hyperbilirubinemia, Ataxia ORPHA:822
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia, Bowing of the long bones ORPHA:2088
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia, Tibial bowing, Coxa vara, Rickets of the lower ... ORPHA:289176
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Lethargy ORPHA:469
Chromosome 2Q37 Deletion Syndrome
Short toe, Short metatarsal, Short phalanx of finger, Short metacarpal, Hyperactivity OMIM:600430
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Smith-Magenis Syndrome
Hypercholesterolemia, Pes planus, Hypertriglyceridemia, Hyperactivity, Brachydactyly, Short palm OMIM:182290
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Ck Syndrome
Hyperactivity, Micrognathia, Abnormal digit morphology OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Pes planus, Sandal gap, Small hand, Pes cavus, Short foot, Hyperactivity, Brachydactyly OMIM:300354
Mental Retardation, Autosomal Recessive 38
Hyperactivity, Unsteady gait, Sandal gap OMIM:615516
Lathosterolosis
Postaxial hand polydactyly, Toe syndactyly, Hyperbilirubinemia, Postaxial foot polydactyly, Talip... OMIM:607330
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Coffin-Siris Syndrome 7
Clinodactyly, Brachydactyly, Hyperactivity OMIM:618027
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Brachydactyly, Ataxia ORPHA:168577
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Biliary Malformation With Renal Tubular Insufficiency
Micrognathia, Talipes equinovarus, Hip dislocation, Conjugated hyperbilirubinemia OMIM:210550
Hardikar Syndrome
Hyperbilirubinemia OMIM:612726
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Unsteady gait, Abnormal foot morphology, Hyperactivity OMIM:617865
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Dent Disease
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Enlarged epiphyses, Renal... ORPHA:1652
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Polydactyly, Rhizomelia, Hyperbilirubinemia, Mesomelia, Short ribs, C... OMIM:613610
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Abnormal finger flexi... OMIM:210600
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia OMIM:300908
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
2Q23.1 Microdeletion Syndrome
Hip dysplasia, Ataxia, Sandal gap, Hyperactivity, Clinodactyly of the 5th finger, Short palm ORPHA:228402
Raine Syndrome
Hypophosphatemia, Bowing of the long bones, Long hallux, Micrognathia, Brachydactyly, Micromelia OMIM:259775
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Hyperactivity OMIM:615824
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Abnormality of long bone morphology, Hypouricemia, Elevated circu... ORPHA:411634
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Long fingers OMIM:614294
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Lethargy OMIM:218700
Mccune-Albright Syndrome
Hypophosphatemia, Increased circulating cortisol level, Primary hypercortisolism, Abnormality of ... ORPHA:562
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Pedal edema, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Occipital Horn Syndrome
Hip dysplasia, Genu valgum, Large iliac wing, Absent tibia, Humerus varus, Pes planus, Down-slopi... ORPHA:198
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Neonatal hyperbilirubinemia, Clubbing of toes, Pes cavus, Short foot, Bilateral ... ORPHA:163956
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lower limbs, Hyp... ORPHA:464321
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Hyperactivity OMIM:619239
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Decreased circulating cortisol level, Gait disturbance, At... ORPHA:139396
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Toe syndactyly, Down-sloping shoulders, Sandal gap, Small hand, Pes cavu... ORPHA:85293
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity, Micrognathia, Hallux valgus OMIM:614104
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
19P13.12 Microdeletion Syndrome
Finger syndactyly, Deep plantar creases, Sandal gap, Toe clinodactyly, Hyperactivity, Clinodactyl... ORPHA:254346
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Potocki-Lupski Syndrome
Hyperactivity, Micrognathia, Hypocholesterolemia OMIM:610883
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Syndactyly, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
Fragile X Syndrome
Pes planus, Hyperactivity OMIM:300624
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Clinodactyly of the 4th finger, 2-3 toe syndactyly, Hyperactivity, Prominent fi... ORPHA:485405
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Hyperactivity, Talipes equinovarus, Clinodactyly of the 5th finger, Brachydac... ORPHA:3306
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Genu valgum, Abnormality of epiphysis morp... ORPHA:534
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Lamb-Shaffer Syndrome
Hip dysplasia, Micrognathia, Ataxia, Hyperactivity ORPHA:530983
Cri-Du-Chat Syndrome
Short metatarsal, Microretrognathia, Pes planus, Difficulty walking, Metatarsus adductus, Syndact... OMIM:123450
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Fibular hypo... ORPHA:140
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
19P13.3 Microduplication Syndrome
Hip dysplasia, Hip subluxation, Clinodactyly, Pes cavus, Hyperactivity, Hip dislocation, Microgna... ORPHA:447980
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Steatorrhea, Ataxia, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Micrognathia, Congenital finger flexion contractur... ORPHA:166108
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb, Hyperactivity ORPHA:412035
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Duplication of pha... OMIM:236680
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Hyperactivity, Clinodactyly of the 5th finger, Tapered finger, Abnormal foot morphology OMIM:618430
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:667
Hypophosphatemic Rickets
Hypophosphatemia, Bowing of the long bones, Hypercalcemia, Abnormal lower limb bone morphology ORPHA:437
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Femoral bowing, Hypoplasia of the radius, Foot olig... OMIM:276820
Glass Syndrome
Camptodactyly, Hyperactivity, Talipes equinovarus, Micrognathia, Arachnodactyly, Broad-based gait OMIM:612313
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Hyperactivity ORPHA:391307
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Short thumb, Hyperactivity, Absent thumb, Micrognathia OMIM:617516
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Hypoplastic iliac wing, Cutaneous finger syndactyly, Small hand, Hypoalbuminemia, ... OMIM:235510
Argininemia
Hyperargininemia, Hyperammonemia, Spastic gait, Hyperactivity OMIM:207800
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Leg muscle stiffness, Hyperactivity ORPHA:43
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Hyperactivity ORPHA:760
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Radial deviation of finger, Clinodactyly, Hyperactivity, Micrognathia, Broad-base... OMIM:609625
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Talipes calcaneovalgus, Bradykinesia, Dysmetria, Hyper... OMIM:610217
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Microretrognathia, Hyperactivity, Proximal placement of ... ORPHA:261211
Cranioectodermal Dysplasia 1
Hypocalcemia, Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short humerus, Short distal... OMIM:218330
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Broad distal phalanx of finger, Long toe, Hyperactivity, Micrognathia, Long fingers ORPHA:363686
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Camptodactyly, Distally placed thumb, Short thumb, Hyperactivity, Cutaneous synd... OMIM:619148
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Abnormal circulating porphyrin concen... ORPHA:79277
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Finger clinodactyly ORPHA:8
Hyperlysinemia
Hypoornithinemia, Hyperlysinemia, Dysmetria, Hyperactivity, Hyperammonemia, Tip-toe gait ORPHA:2203
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Distal Trisomy 17Q
Genu valgum, Hand polydactyly, Overlapping toe, Rhizomelia, Pes cavus, Hyperactivity, Micrognathi... ORPHA:3379
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 2nd finger, Camptodactyly, Clinodactyly, Hyperactivity, Cone-shaped... ORPHA:261323
Multiple Endocrine Neoplasia Type 4
Abnormality of pancreas physiology, Elevated circulating growth hormone concentration, Increased ... ORPHA:276152
Mend Syndrome
Overlapping fingers, Hand polydactyly, Overlapping toe, 2-3 toe syndactyly, Elevated 8-dehydrocho... ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, Broad thumb, Arachnodactyly, Hyperactivity OMIM:309520
Smith-Lemli-Opitz Syndrome
Short toe, Postaxial hand polydactyly, Hip subluxation, Epiphyseal stippling, Overlapping toe, Ta... OMIM:270400
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Pes planus, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Camptodactyly, Flexion contracture of toe, Fibular hypoplasia, Ost... OMIM:300373
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Abnorma... OMIM:234200
Maternal Phenylketonuria
Clinodactyly, Bifid distal phalanx of the thumb, Hyperactivity, Micrognathia, Brachydactyly ORPHA:2209
Distal Monosomy 12Q
Overlapping toe, Short middle phalanx of finger, Long foot, 2-3 toe syndactyly, Large hands, Pes ... ORPHA:96149
Witteveen-Kolk Syndrome
Attention deficit hyperactivity disorder, Toe syndactyly, Abnormality of finger, Abnormal thumb m... OMIM:613406
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Broad hallux, Hyperactivity, Clinodactyly of the 5th finger ORPHA:457284
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Hip dislocation, ... OMIM:619297
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short sternum, Mesomelia, Sho... ORPHA:3404
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Camptodactyly, Brachydactyly, Clinodactyly, Small hand, Short foot, Hyperactivit... OMIM:309590
Early Infantile Epileptic Encephalopathy
Dystonia, Episodic ataxia, Short finger, Hyperactivity, Broad finger, Broad phalanx of the toes ORPHA:1934
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Choreoacanthocytosis
Absent Achilles reflex, Peroneal muscle atrophy, Blepharospasm, Bradykinesia, Lingual dystonia, L... ORPHA:2388
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Genu valgum, Pes planus, Talipes calcaneovalgus, Brachydactyly, Radial deviation of finger, Clino... OMIM:309580
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Fibular hypoplasia, Small hand, Micrognathia, Brachydactyly, Hypoplasia of proxi... ORPHA:444077
8Q24.3 Microdeletion Syndrome
Hip dysplasia, Short hallux, Rocker bottom foot, Short femur, Congenital hip dislocation, Finger ... ORPHA:508488

Histopathology

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 Capn10

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 Capn10.

No publications found that use IMPC mice or data for Capn10.

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
Capn10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Capn10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Capn10tm44789(L1L2_gt0) Targeting vectors
Capn10tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

The IMPC Newsletter

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

Subscribe to newsletter