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Gene: Lbx1 MGI:104867

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ladybird homeobox 1
Synonyms:
Lbx1h

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Lbx1 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 Lbx1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Central Hypoventilation Syndrome, Congenital, 3
OMIM:619483

The table below shows human diseases predicted to be associated to Lbx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression, Back pain OMIM:608220
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... OMIM:222600
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Craniofacial Conodysplasia
Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Pes cavus, Abnormal motor neuron morphology DECIPHER:29
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Cervical cord compression, Atrial septal defect, Hypoplastic cervical vertebra... ORPHA:79345
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:608634
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Pyknoachondrogenesis
Stillbirth OMIM:265880
Microcephaly With Cervical Spine Fusion Anomalies
Spinal cord compression, Vertebral fusion, Spinal instability OMIM:251250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:158590
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morpho... ORPHA:83468
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Talipes equinovarus, Scoliosis, Hyperlordosis OMIM:611067
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Dysosteosclerosis
Ventricular septal defect, Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspon... ORPHA:1782
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Micrognathia, Paucity of anterior hor... OMIM:611890
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Death in infancy, Abnormal heart valve morphology, Short neck, Kypho... OMIM:230500
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... OMIM:601187
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Pes cavus, Scoliosis OMIM:607225
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Abnormality of the vertebral column OMIM:602475
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga OMIM:601370
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... OMIM:613628
Greenberg Dysplasia
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... OMIM:215140
Split Cord Malformation Type I
Diastomatomyelia, Scoliosis ORPHA:1671
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... ORPHA:2916
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Abnormal metaphyseal trabec... OMIM:224300
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death, Microg... OMIM:253310
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... OMIM:258480
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... ORPHA:750
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... OMIM:177170
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Opsismodysplasia
Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop... ORPHA:2746
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral mo... ORPHA:93315
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgum, Decreased anteri... ORPHA:3101
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus, Paralysis OMIM:613710
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp... OMIM:113500
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Gm1 Gangliosidosis Type 1
Hypoplastic vertebral bodies, Cardiomyopathy, Flared iliac wing, Short long bone, Platyspondyly, ... ORPHA:79255
Gm1-Gangliosidosis, Type Ii
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb... OMIM:230600
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal st... OMIM:101800
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Caudal Regression Syndrome
Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte... ORPHA:3027
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Pes cavus ORPHA:95434
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of... ORPHA:2163
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Abnormal form of the ... ORPHA:93941
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal amyotrophy, Distal ... OMIM:616287
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Fem... OMIM:620076
Seckel Syndrome 8
Spinal cord compression, Kyphoscoliosis, Micrognathia OMIM:615807
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Advanced ossification of carpal bones, Knee dislocation, Short long bone, Small epiph... OMIM:620269
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Diastrophic Dysplasia
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Micro... ORPHA:628
Myxopapillary Ependymoma
Abnormal sacrum morphology, Abnormal conus terminalis morphology ORPHA:251643
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short neck, Achilles tendon contractur... OMIM:252940
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis OMIM:616286
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... OMIM:150250
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Spinal cord compression, Flared metaphysis, Hypoplas... ORPHA:93346
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis OMIM:605285
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Postaxial polydac... ORPHA:397715
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal heart morphology, Abnormal lon... ORPHA:356961
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, S... ORPHA:56305
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer... ORPHA:56304
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Abnormal foot morphology, Abnormal spinal cord morpho... ORPHA:99947
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Abnormal motor neuron morphology, Abnormal long bon... ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Cervi... OMIM:607095
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Syringomyelia, Scoliosi... OMIM:122600
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Spinal co... OMIM:618150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Talipes, Spinal dysraphism, Aortic valve stenosis, Hypoplas... OMIM:617660
Stuve-Wiedemann Syndrome 1
Micrognathia, Short neck, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, S... OMIM:601559
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Broad hallux, Broad thumb OMIM:272200
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Missing ribs, Diastomatomyelia, Abnormal tricuspid valve m... ORPHA:1759
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Horner Syndrome, Congenital
Paralysis OMIM:143000
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... OMIM:251230
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mitral stenosis, ... ORPHA:955
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Spondyloepiphyseal Dysplasia Congenita
Back pain, Micrognathia, Short neck, Abnormally ossified vertebrae, Lumbar hyperlordosis, Abnorma... ORPHA:94068
Mucopolysaccharidosis, Type Iva
Abnormal heart valve morphology, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tu... OMIM:253000
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Spinal cord compress... OMIM:618853
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Diamond-Blackfan Anemia 1
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Absent thumb, Shor... OMIM:105650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... ORPHA:1145
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Scoliosis ORPHA:2590
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Abnormal spinal cord morphology, Spinal arteriovenous malfor... ORPHA:53721
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Kyphoscoliosis, Short neck, Abnormal foot morphology, Hypopl... OMIM:184252
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Absent Achilles reflex OMIM:263570
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Short neck, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing, Atrial septal def... ORPHA:96334
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... OMIM:184250
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Abnormal spinal cord morphology ORPHA:139578
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... OMIM:609813
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow... OMIM:608940
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Caudal Duplication
Spina bifida, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Vertebral segmentatio... ORPHA:1756
Smith-Mccort Dysplasia 2
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyperlordosis,... OMIM:615222
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Ovoid vertebral bodies, Coxa valga, Epiphyseal... OMIM:253010
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Abnormal spinal cord morphology, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Variegate Porphyria
Paralysis OMIM:176200
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibula morphology, Abn... ORPHA:1988
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Spinal cord compression, Spinal canal stenosis,... OMIM:307800
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ankle clonus OMIM:613954
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Micrognathia, Kyphosis, Short neck, Fused cervical verteb... ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Iniencephaly
Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Absent vertebra, Spinal dysraphism, ... ORPHA:63259
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Femoral-Facial Syndrome
Short fourth metatarsal, Micrognathia, Hemivertebrae, Dysplastic sacrum, Humeroradial synostosis,... OMIM:134780
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints OMIM:182940
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionat... OMIM:263520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Short neck, Complete atrioventricular canal defect, Preaxial... OMIM:617925
Omodysplasia 1
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... OMIM:258315
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Abno... ORPHA:1724
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... OMIM:271640
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short neck, Hypoplasia of... OMIM:264180
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness OMIM:162500
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus, Cardiomegaly OMIM:620306
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... OMIM:620161
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Abnormal foot morphology OMIM:221770
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Camptodactyly of finger, Irregular sclerotic endplates, Kyp... ORPHA:3455
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal lower limb muscle w... OMIM:606070
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly OMIM:612913
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... OMIM:119800
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... ORPHA:261
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Missing ribs, Hemivertebrae, Butterfly vertebrae, Ve... OMIM:206900
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... ORPHA:239
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Narrow greater sciatic notc... ORPHA:508533
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Knee flexion contracture, Abnormal calc... OMIM:271665
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet... ORPHA:35173
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusio... OMIM:118100
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... ORPHA:958
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Abnormal pelvic girdle bone morphology, Pes cavus, Carpal... OMIM:601162
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal spinal cord morphology, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis ORPHA:449285
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, ... OMIM:300232
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Scoliosis, Abnormal upper ... OMIM:205100
White-Sutton Syndrome
Micrognathia, Short neck, Hypoplastic cervical vertebrae, Broad foot, Atrial septal defect, Paten... OMIM:616364
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Micrognathia, Long fingers, Hypoplastic coccygeal vertebrae, Bilatera... OMIM:619512
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Limb Body Wall Complex
Duplication of hand bones, Ventricular septal defect, Broad hallux, Spina bifida, Aplasia/hypopla... ORPHA:2369
Basilar Impression, Primary
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck OMIM:109500
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... OMIM:253200
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver... OMIM:143095
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosi... OMIM:252500
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276241
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili... ORPHA:397744
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Vocal cord paralysis, Intrinsic hand muscle atrophy, Knee flexion contract... OMIM:615490
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Spinal canal stenos... ORPHA:35125
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... OMIM:600373
Friedreich Ataxia 2
Abnormality of the dorsal column of the spinal cord, Concentric hypertrophic cardiomyopathy, Hamm... OMIM:601992
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... OMIM:206920
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk... ORPHA:682
Omodysplasia 2
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... OMIM:164745
Laryngeal Abductor Paralysis
Vocal cord paralysis, Talipes equinovarus OMIM:150260
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Hydromyelia, Bilateral... OMIM:600145
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Short neck, Metata... OMIM:253220
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276244
Japanese Encephalitis
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... ORPHA:79139
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Spasticity, Paralysis ORPHA:803
Hydrolethalus Syndrome 1
Ventricular septal defect, Micrognathia, Preaxial hand polydactyly, Complete atrioventricular can... OMIM:236680
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Dilated cardiomyopathy, Small hand, 2-3 toe ... ORPHA:37553
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Melnick-Needles Syndrome
Pes planus, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... OMIM:309350
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Glioblastoma
Paralysis ORPHA:360
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Marshall-Smith Syndrome
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Thoracic kyphosis, Cervical cord c... OMIM:602535
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of the odontoid ... OMIM:616007
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... ORPHA:2912
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Pes planus, Short neck, Hypoplasia of the od... OMIM:305400
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki... ORPHA:297
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Short finger, Paralysis OMIM:242100
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Micro... ORPHA:90652
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Spasticity, Hemiparesis, Hypertonia, Tricuspid valve prolapse, ... ORPHA:2396
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap... OMIM:607014
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... OMIM:211530
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Pes planus, Short metacarpal, Epiphyseal dysplasia, Bowed humerus, Tarsal syno... OMIM:272460
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Andersen Cardiodysrhythmic Periodic Paralysis
Short metacarpal, Toe syndactyly, Scapular winging, Periodic paralysis, Short metatarsal, Small h... OMIM:170390
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia OMIM:112310
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Micrognathia, Thoracolumba... OMIM:300373
Adrenomyeloneuropathy
Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneratio... ORPHA:139399
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Tibial Hemimelia
Absent tibia OMIM:275220
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hem... ORPHA:3412
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Metaphyseal wide... OMIM:250250
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Currarino Syndrome
Absence of the sacrum, Hemisacrum, Tethered cord, Bifid sacrum, Presacral teratoma, Anterior sacr... OMIM:176450
Inhalational Botulism
Paralysis ORPHA:254504
X-Linked Cerebral Adrenoleukodystrophy
Ankle clonus, Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Pes cavus OMIM:614298
Charge Syndrome
Hypoplasia of the ulna, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Micr... OMIM:214800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Craniofacial Microsomia 1
Ventricular septal defect, Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, H... OMIM:164210
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s... OMIM:208500
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Pericarditis, Hypoplastic scapulae, Sacral dimple, Dextrocar... ORPHA:3310
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor... ORPHA:99956
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Mitral valve calcification, Paralysis, Aortic valve calcification, Spastic paraple... ORPHA:2072
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Short thumb, Short toe, Patent ductus arteriosus, ... OMIM:164280
Superficial Siderosis
Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Gitelman Syndrome
Rhabdomyolysis, Ataxia, Paralysis OMIM:263800
Kinsship Syndrome
Pes planus, Death in infancy, Sacral dimple, Micrognathia, Coxa valga, Short neck, Hip dislocatio... OMIM:619297
Familial Cerebral Cavernous Malformation
Spinal cord lesion, Scoliosis ORPHA:221061
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Tethered cord, Sacral segmen... OMIM:258040
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Bicuspid aortic valve, Broad distal phalange... OMIM:218330
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Currarino Syndrome
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum, Lower limb asymmetry ORPHA:1552
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal spinal cord morphology ORPHA:68
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Gitelman Syndrome
Pericardial effusion, Rhabdomyolysis, Paralysis ORPHA:358
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Periodic paralysis OMIM:276700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Ventricular septal defect, Micrognathia, Small hand, Fibular hypop... ORPHA:444077
African Trypanosomiasis
Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myocardi... ORPHA:3385
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Diaphyseal sclerosis OMIM:259730
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial a... OMIM:270100
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Periodic hypokalemic paresis, Tremor ORPHA:91347
Williams-Beuren Syndrome
Hallux valgus, Incoordination, Bicuspid aortic valve, Ventricular septal defect, Poor coordinatio... OMIM:194050
Pineoblastoma
Paralysis ORPHA:251909
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Central Hypoventilation Syndrome, Congenital, 3
OMIM:619483

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 Lbx1

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 Lbx1.

No publications found that use IMPC mice or data for Lbx1.

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.

MGI Allele Allele Type Produced
Lbx1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lbx1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lbx1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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