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Gene: Lmo4 MGI:109360

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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:
LIM domain only 4
Synonyms:
A730077C12Rik,  Etohi4,  Crp3

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 Lmo4 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 Lmo4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis... OMIM:617967
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brains... OMIM:236500
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Anencephaly 2
Anencephaly, Bifid nose OMIM:619452
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Diprosopus
Anencephaly, Abnormality of the nose ORPHA:1681
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Microhydranencephaly
Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrane... OMIM:605013
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal d... ORPHA:1908
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Underdeveloped nasal alae, Microcephaly OMIM:601355
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... ORPHA:2570
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Microcephaly ORPHA:63862
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... OMIM:225790
Distal Deletion 13Q
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... ORPHA:1590
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Ab... ORPHA:268882
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Meckel Syndrome, Type 10
Occipital encephalocele, Frontal bossing, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malfor... OMIM:614175
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... ORPHA:66637
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Hydrolethalus
Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis... ORPHA:2189
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Absent septum pellucidum, Acrania, Dysplastic corpus callosum, Colpoce... OMIM:618820
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Facial diplegia, Hammertoe, Distal arthrogryposis, Periphe... OMIM:616287
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... OMIM:108720
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Choanal atresia, Microcephaly, Anencephaly, Brachycephaly, Wide nasal bridge, Trig... OMIM:619148
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ... ORPHA:2522
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... ORPHA:3320
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Holoprosencephaly 5
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Microcephaly... OMIM:609637
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxi... OMIM:618000
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Congenital Vertical Talus
Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Myelomeningocele, Achil... ORPHA:178382
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... ORPHA:648
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Cerebrocostomandibular Syndrome
Death in infancy, Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningoce... ORPHA:1393
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Joubert Syndrome 15
Exencephaly OMIM:614464
Iniencephaly
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... OMIM:602588
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica... ORPHA:221098
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia, Abnormality of the ear OMIM:600776
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... ORPHA:508498
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Trisomy 18
Choanal atresia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callos... ORPHA:3380
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Facial palsy, Sandal ga... OMIM:607323
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of t... OMIM:616546
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... OMIM:118100
Apert Syndrome
Frontal bossing, Cloverleaf skull, Sensorineural hearing impairment, Hydrocephalus, Abnormal semi... ORPHA:87
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused ce... OMIM:609053
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Sacral dimple, Vertebral fusion, Vertebral segmentation defect, Short long bone OMIM:618845
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of... ORPHA:3265
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Peripheral Cone Dystrophy
Pallor OMIM:609021
Dermatitis, Atopic
Pallor, Dry skin, Allergic rhinitis, Facial erythema OMIM:603165
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of the 5th finger, Short p... OMIM:274000
Verheij Syndrome
Branchial cyst, Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae... OMIM:615583
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... ORPHA:313892
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Familial Focal Epilepsy With Variable Foci
Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly ORPHA:98820
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Plagiocephaly, Hypoplasia of the semicircular canal, Low-set ears, Enl... ORPHA:251061
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Intrauterine growth retardation OMIM:269860
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Midline defect of ... OMIM:236680
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Ring Chromosome 13 Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Anencephaly, Wide nasal ... ORPHA:96176
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Intrauterine growth retardation ORPHA:887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... OMIM:606612
Optic Atrophy 1
Pallor OMIM:165500
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Abnormal cortical gyration, Pachygyria, Depressed nasal ridge, Exenc... ORPHA:2211
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Holoprosencephaly, Scoliosis, Thoracic hemivert... ORPHA:1445
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... ORPHA:2369
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... OMIM:617159
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Apert Syndrome
Syndactyly, Finger syndactyly, Broad distal hallux, Sagittal craniosynostosis, Limited elbow move... OMIM:101200
Bilateral Polymicrogyria
Facial diplegia, Arthrogryposis multiplex congenita, Abnormal glossopharyngeal nerve morphology ORPHA:268940
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Primary Lateral Sclerosis, Juvenile
Pallor, Cerebral cortical atrophy OMIM:606353
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor ORPHA:163596
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Tick-Borne Encephalitis
Back pain, Stiff neck, Facial palsy, Abnormal glossopharyngeal nerve morphology, Limb pain, Polyn... ORPHA:297
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Neu-Laxova Syndrome 1
Wide nose, Spina bifida, Depressed nasal ridge, Stillbirth, Lissencephaly, Short umbilical cord, ... OMIM:256520
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Abnormal bone o... ORPHA:93315
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... OMIM:113650
Blepharocheilodontic Syndrome 1
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis OMIM:119580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... ORPHA:377
Kcnq2-Related Epileptic Encephalopathy
Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral white m... ORPHA:439218
Meckel Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Depressed nasal ridge, Aplasia/Hypoplasi... ORPHA:564
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Breath-Holding Spells
Pallor OMIM:607578
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Optic atrophy, Punctate vertebral cal... ORPHA:1914
Cousin Syndrome
Hydranencephaly, Frontal bossing, Hydrocephalus OMIM:260660
Charge Syndrome
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... OMIM:214800
Meckel Syndrome, Type 1
Occipital encephalocele, Microcephaly, Large placenta, Hydrocephalus, Anencephaly, Cerebral hypop... OMIM:249000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Camptodactyly OMIM:211960
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Small hand, Short foot, ... ORPHA:915
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Thakker-Donnai Syndrome
Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Hemoglobin D Disease
Pallor ORPHA:90039
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy, Brachydactyly OMIM:616368
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Otopalatodigital Syndrome Type 2
Encephalocele, Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Campt... ORPHA:90652
Cyclic Vomiting Syndrome
Pallor, Microcephaly OMIM:500007
Distal Deletion 10Q
Frontal bossing, Craniosynostosis, Congenital sensorineural hearing impairment, Spina bifida occu... ORPHA:96148
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Abnormal cerebral white matter morphology, Microcephaly, Pallor, Death in childhood OMIM:246450
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Short metatarsa... OMIM:617137
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Amish Lethal Microcephaly
Death in infancy, Spina bifida, Limitation of joint mobility, Osteoporosis, Optic atrophy, Decrea... ORPHA:99742
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Fumarase Deficiency
Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Hypopl... OMIM:606812
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Evans Syndrome
Pallor, Epistaxis, Petechiae ORPHA:1959
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... ORPHA:2876
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Missing ribs ORPHA:1759
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... OMIM:272460
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Secondary microcephaly, Cerebellar hypoplasia, Cerebral atrophy OMIM:613839
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Sacral dimple, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bifid... ORPHA:1327
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scolios... ORPHA:88628
Larsen Syndrome
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Tapered hu... OMIM:150250
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Sclerosis of skull base, Scol... OMIM:130720
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Leishmaniasis
Rhinitis, Pallor, Skin ulcer ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Depressed nasal ridge, Pallor, Microcephaly OMIM:600462
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Acro-Renal-Ocular Syndrome
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ... ORPHA:959
Dravet Syndrome
Pallor, Global brain atrophy ORPHA:33069
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Tapered f... OMIM:613458
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Retinitis Pigmentosa 51
Pallor OMIM:613464
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Czeizel-Losonci Syndrome
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin... ORPHA:2437
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Rheumatic Fever
Epistaxis, Recurrent pharyngitis, Erythema, Hemiballismus, Pallor ORPHA:3099
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Broad thumb ORPHA:60015
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Aicardi Syndrome
Block vertebrae, Spina bifida, Proximal placement of thumb, Missing ribs, Optic disc coloboma, Op... OMIM:304050
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... ORPHA:3027
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Kyphosi... ORPHA:3219
Anophthalmia Plus Syndrome
Deviation of finger, Vertebral segmentation defect, Spina bifida ORPHA:1104
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Alg3-Cdg
Neural tube defect, Abnormal pinna morphology, Hearing impairment ORPHA:79321
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Hemivertebrae, Rib f... OMIM:206900
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc... OMIM:609136
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... ORPHA:261318
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Patellar aplasia, Antecu... OMIM:161200
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Chromosome 17P13.1 Deletion Syndrome
Joint laxity, Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short nec... OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypop... OMIM:253280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... ORPHA:444077
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominen... OMIM:618500
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Optic atrophy, Rib fusion, Small hand, Hip dy... ORPHA:50
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Irida Syndrome
Pallor ORPHA:209981
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... ORPHA:96169
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... OMIM:148050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Myelofibrosis
Pallor, Purpura OMIM:254450
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased cup-to-disc ratio,... OMIM:211380
Waardenburg Syndrome Type 1
Scoliosis, Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Charge Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Aqueductal stenosis, Abnormality of... ORPHA:138
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Optic atrophy OMIM:614424
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Hip dysplasi... OMIM:610443
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Small cervical vertebral bodies, Abnormal acetabulum morphology, Brachyd... ORPHA:397715
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Lateral Meningocele Syndrome
Prominent metopic ridge, Short neck, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of the v... ORPHA:2789
Cold Agglutinin Disease
Pallor ORPHA:56425
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment ORPHA:95433
Dominant Beta-Thalassemia
Frontal bossing, Depressed nasal bridge, Pallor, Skin ulcer ORPHA:231226
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... OMIM:213980
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Triploidy
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Holoprosencephaly, Decreased skull oss... ORPHA:3376
Retinitis Pigmentosa 75
Pallor OMIM:617023
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Hereditary Folate Malabsorption
Cerebral calcification, Pallor ORPHA:90045
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... ORPHA:233
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Diamond-Blackfan Anemia 1
Microcephaly, Parietal foramina, Depressed nasal ridge, Pallor, Intrauterine growth retardation, ... OMIM:105650
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Short toe... OMIM:139210
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
American Trypanosomiasis
Pallor ORPHA:3386
Beta-Thalassemia Major
Frontal bossing, Depressed nasal bridge, Pallor, Skin ulcer ORPHA:231214
Simpson-Golabi-Behmel Syndrome
Death in infancy, Vertebral fusion, Congenital hip dislocation, Finger syndactyly, Camptodactyly ... ORPHA:373
Curry-Jones Syndrome
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Tay-Sachs Disease
Pallor OMIM:272800
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Optic atrophy, Abnormal rib morphology ORPHA:991
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Short neck, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Pallor, Chronic rhinitis, Craniosynostosis ORPHA:667
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum, Pallor ORPHA:137675
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Rocker bottom foot, Limitat... ORPHA:99776
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Pallor ORPHA:331206
Waldenström Macroglobulinemia
Pallor, Epistaxis, Purpura ORPHA:33226
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation ORPHA:2003
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Scoliosis OMIM:616038
Senior-Loken Syndrome 8
Pallor OMIM:616307
Elliptocytosis 1
Pallor OMIM:611804
Histidinemia
Hyperactivity ORPHA:2157
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Plummer-Vinson Syndrome
Pallor ORPHA:54028
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Leukoencephalopathy, Microcephaly ORPHA:20
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... OMIM:276820
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hallermann-Streiff Syndrome
Wormian bones, Spina bifida, Hyperlordosis, Metaphyseal widening, Optic disc coloboma, Thin ribs,... OMIM:234100
Neurocutaneous Melanocytosis
Death in infancy, Meningocele ORPHA:2481
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius... ORPHA:3412
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Hemivertebrae, Hip dislocation, Abnorm... ORPHA:93929
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Patellar hypoplasia, Preaxial foot polydactyly, Aplasia/Hypoplasia of... ORPHA:1827
Degcags Syndrome
Anteverted nares, Prominent nasal bridge, Craniosynostosis, Microcephaly, Prominent nose, Plagioc... OMIM:619488
Letterer-Siwe Disease
Pallor OMIM:246400
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Tibial pseudarthrosis, Genu valgu... OMIM:162200
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... OMIM:227330
Fanconi Anemia, Complementation Group D2
Anemic pallor, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus... OMIM:227646
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Pituitary Apoplexy
Abnormal caudate nucleus morphology, Pallor ORPHA:95613
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Split hand, Split foot,... ORPHA:2092
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Phakomatosis Pigmentokeratotica
Hypophosphatemic rickets, Scoliosis, Pheochromocytoma, Spina bifida ORPHA:2874
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Death in childhood OMIM:557000
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Adenohypophysitis
Pallor ORPHA:95512
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... ORPHA:97360
Incontinentia Pigmenti
Erythema, Pallor, Microcephaly OMIM:308300
Panhypophysitis
Pallor ORPHA:95513
Aregenerative Anemia
Pallor ORPHA:101096
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele ORPHA:2031
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary ribs, Spina bifida, Supernumerary vertebrae OMIM:193500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Spina bifida, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Ar... ORPHA:2671
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Prolactinoma
Pallor ORPHA:2965
Jacobsen Syndrome
Death in infancy, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short ne... ORPHA:2308
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... OMIM:306955
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Joint laxity, Sacral dimple, Prominent fingertip pads, Arachnodactyly, Anomaly... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Joint laxity, Sacral dimple, Prominent fingertip pads, Arachnodactyly, Anomaly... ORPHA:363958
Diamond-Blackfan Anemia
Pallor, Depressed nasal bridge, Wide nasal bridge, Microcephaly ORPHA:124
Esophageal Atresia
Pallor, Choanal atresia ORPHA:1199
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Postaxial hand polyd... ORPHA:46059
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Overlapping fingers, Aganglionic megacolon, Overlapping toe, Kyphoscolio... ORPHA:798
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor, Microcephaly OMIM:227645
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Rubinstein-Taybi Syndrome 1
Flexion contracture, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly of the 5th fi... OMIM:180849
Fanconi Anemia, Complementation Group E
Anemic pallor, Microcephaly OMIM:600901
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Aganglionic megacolon, Abnormal morpho... ORPHA:84
Fanconi Anemia, Complementation Group A
Anemic pallor, Microcephaly OMIM:227650
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Arachnodactyly, Spina bifida, Short neck, Hydrocephalus, Meningocele, Opti... ORPHA:567
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Scoliosis, Spina bifida, Tapered finger OMIM:619480
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Knobloch Syndrome 1
Occipital encephalocele, Optic disc pallor, Peripapillary atrophy, Occipital meningocele, Spina b... OMIM:267750
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Arima Syndrome
Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Optic atrophy OMIM:243910
Von Hippel-Lindau Disease
Pallor ORPHA:892
Semilobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis ORPHA:93924
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele ORPHA:1010
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hydrocephalus, Partial duplication of thumb phalanx, He... OMIM:164210
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Goodpasture Syndrome
Pallor OMIM:233450
Exstrophy-Epispadias Complex
Abnormal joint morphology, Hydrocephalus, Spina bifida ORPHA:322
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 Lmo4

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 Lmo4.

No publications found that use IMPC mice or data for Lmo4.

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
Lmo4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lmo4tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lmo4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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