Not currently registered for phenotyping at IMPC

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

Gene Summary

LIM domain only 4
A730077C12Rik,  Etohi4,  Crp3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly, Intrauterine growth retardation ORPHA:293
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fron... ORPHA:1528
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly OMIM:300073
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... ORPHA:2345
Craniotelencephalic Dysplasia
Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Fro... OMIM:218670
Wildervanck Syndrome
Pseudopapilledema, Short neck, Fused cervical vertebrae, Facial palsy, Meningocele ORPHA:3456
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Bulbous nose, Cerebellar hypoplasia, Choanal stenosis, Hydranencephaly, Hypop... OMIM:236500
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Anencephaly 2
Anencephaly, Bifid nose OMIM:619452
Abnormality of the nose, Anencephaly ORPHA:1681
Immunodeficiency 8
Hyperactivity OMIM:615401
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Underdeveloped nasal alae OMIM:601355
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpu... ORPHA:2570
Meckel Syndrome, Type 10
Occipital encephalocele, Frontal bossing, Anencephaly OMIM:614175
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Dandy-W... OMIM:615287
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fused cervi... ORPHA:1436
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Wide nas... ORPHA:1908
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Hypoplasia of ... OMIM:605013
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Myelomeningocele, Abnormal rib morphology, Vertebral fusion, Abnor... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Death in infancy, Vertebral fusion, Abnormality of the od... OMIM:277300
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Holoprosencephaly, Encephal... ORPHA:1590
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Anencephaly, Microcephaly, Da... OMIM:611134
Schisis Association
Microcephaly, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Tho... OMIM:309620
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Abnormality of the twelfth cranial nerve, Myelopathy, Scoliosis,... ORPHA:268882
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Dandy-Walker malformation, Meningocele, Encephalocele OMIM:603194
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Short distal phalanx of the... ORPHA:370010
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Agenesis of corpus callosum, Anencephaly, Abnormality of the sense of smell, Hydrocephalus, Absen... ORPHA:2189
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Abnormal joint morphology, Delayed patellar ossifica... ORPHA:485
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Acrania, Aplasia of the na... OMIM:618820
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae, Hip dysplasia, Optic atrophy ORPHA:530983
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Encephal... OMIM:108720
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Li... OMIM:151200
Missing ribs, Short neck, Absent or minimally ossified vertebral bodies, Myelomeningocele, Narrow... ORPHA:66637
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Coxa valga, Partial fusion of t... OMIM:305620
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Joint laxity, Cone-shaped epiphysis, Pseudoepiphyses, Scoliosis... OMIM:157800
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Hyperlordosis, Abnormal rib morphology, Fused... ORPHA:2522
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Retinitis Pigmentosa 42
Pallor OMIM:612943
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Chromosome 13Q33-Q34 Deletion Syndrome
Prominent metopic ridge, Agenesis of corpus callosum, Anencephaly, Wide nasal bridge, Choanal atr... OMIM:619148
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Prominent nasal bridge, Intrauterine growth retardation, Arrhinencephaly ORPHA:1788
Noonan Syndrome
Sensorineural hearing impairment, Aplasia of the semicircular canal, Midface retrusion, Low-set, ... ORPHA:648
Holoprosencephaly 5
Semilobar holoprosencephaly, Dilation of lateral ventricles, Central diabetes insipidus, Holopros... OMIM:609637
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Short distal phalanx of finger, Fused cervical vertebrae, Broad thu... OMIM:184460
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Retinitis Pigmentosa 81
Pallor OMIM:617871
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion,... OMIM:610017
Retinitis Pigmentosa 60
Pallor OMIM:613983
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Intrauterine growth retardation, Hydranencephaly, Poren... ORPHA:1393
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Spondylocostal Dysostosis 5
Missing ribs, Supernumerary ribs, Short neck, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Optic nerve... ORPHA:508498
49,Xxxxy Syndrome
Depressed nasal ridge, Depressed nasal bridge, Brachycephaly, Hypoplasia of the corpus callosum, ... ORPHA:96264
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex congenita, Rib fusi... OMIM:265000
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Patellar dislocation, Spina bifida... OMIM:274000
Glossopharyngeal Neuralgia
Schwannoma, Cranial nerve compression, Abnormality of the cervical spine, Abnormal glossopharynge... ORPHA:221098
Apert Syndrome
Acrobrachycephaly, Conductive hearing impairment, Sensorineural hearing impairment, Midface retru... ORPHA:87
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Abnormal form of the vertebral bodies, Tarsal synostosis, Posteri... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the ear, Macrotia OMIM:600776
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Optic nerve hypoplasia, Short thumb, Hypoplasia of the radius, Fused ce... OMIM:609053
Optic Atrophy 9
Pallor OMIM:616289
Trisomy 18
Prominent occiput, Dolichocephaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the cor... ORPHA:3380
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Frontometaphyseal Dysplasia
Limitation of knee mobility, Scoliosis, Metaphyseal widening, Short diaphyses, Limitation of move... ORPHA:1826
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Depressed nasal ridge, Wide nasal bridge, Lissencephaly, Macrogyria, ... ORPHA:2211
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the ulna, Absent radius, Sandal gap, Preaxial polydactyly, Triphalang... OMIM:607323
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Postlingual sensorineural hearing impairment, Vertigo OMIM:601369
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Depressed nasal bridge, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia OMIM:616546
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short long bone, Death in infancy, Vertebral segmentation defect OMIM:618845
Myelomeningocele, Anencephaly, Spinal dysraphism, Dandy-Walker malformation, Spina bifida, Lissen... ORPHA:63259
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Primary Lateral Sclerosis, Juvenile
Pallor, Cerebral cortical atrophy OMIM:606353
Dermatitis, Atopic
Pallor, Allergic rhinitis, Dry skin, Facial erythema OMIM:603165
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Increased bone mineral density,... ORPHA:90650
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Stillbirth, Arrhinencephaly, Intrauterine growth retardation, Agenesi... OMIM:236680
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Large joint dislocations, Scoliosis, Delayed patellar ossification, Long distal phalanx of finger... OMIM:603546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion, Facial palsy OMIM:606612
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Familial Focal Epilepsy With Variable Foci
Pallor, Polymicrogyria, Focal cortical dysplasia, Hemimegalencephaly ORPHA:98820
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin, Intrauterine growth retardation OMIM:301021
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Intrauterine growth retardation, Large fontanelles ORPHA:887
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Flaring of rib cage, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swell... OMIM:612852
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Fumarase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Open operculum, Microcephaly, Frontal bossing, Dep... OMIM:606812
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal vertebral morphology, Scoliosis... ORPHA:64754
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, B... ORPHA:313892
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus ORPHA:1335
Ring Chromosome 21 Syndrome
Clinodactyly, Holoprosencephaly, Fused thoracic vertebrae, Scoliosis, Small hand, Thoracic hemive... ORPHA:1445
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... OMIM:619602
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae OMIM:619227
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Cerebral atrophy, Cerebellar hypoplasia, Secondary microcephaly OMIM:613839
Crouzon Syndrome
Multiple suture craniosynostosis, Conductive hearing impairment, Midface retrusion, Frontal bossi... ORPHA:207
Retinitis Pigmentosa 70
Pallor OMIM:615922
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly OMIM:269860
Ring Chromosome 13 Syndrome
Agenesis of corpus callosum, Anencephaly, Wide nasal bridge, Microcephaly, Frontal bossing, Depre... ORPHA:96176
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Back pain, Limb ... ORPHA:297
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Cerebral atrophy, Abnormal globus pallidus morphology, Facial erythema, Hypoplasi... ORPHA:439218
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Bilateral Polymicrogyria
Facial diplegia, Arthrogryposis multiplex congenita, Abnormal glossopharyngeal nerve morphology ORPHA:268940
Apert Syndrome
Synostosis of carpal bones, Lambdoidal craniosynostosis, Hydrocephalus, Craniosynostosis, Finger ... OMIM:101200
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Hypoplastic iliac win... ORPHA:93315
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus ORPHA:163596
Gorlin Syndrome
Brachydactyly, Vertebral wedging, Arachnodactyly, Scoliosis, Vertebral fusion, Hydrocephalus, Hem... ORPHA:377
Keratoconus Posticus Circumscriptus
Brachydactyly, Short neck, Clinodactyly of the 5th finger, Limited elbow extension and supination... OMIM:244600
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Hydrocephalus, Metaphyseal irregularity, Short greater sciatic notch, S... OMIM:187600
Verheij Syndrome
Clinodactyly, Short neck, Short 5th finger, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislo... OMIM:615583
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Charge Syndrome
Cupped ear, Low-set ears, Sensorineural hearing impairment, Aplasia of the semicircular canal, Ho... OMIM:214800
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Wide nasal bridge, Choanal atresia, Spina bi... ORPHA:2369
Retinitis Pigmentosa 27
Pallor OMIM:613750
Amish Lethal Microcephaly
Optic atrophy, Osteoporosis, Decreased skull ossification, Spina bifida, Death in infancy, Limita... ORPHA:99742
Caudal Regression Syndrome
Arrhinencephaly ORPHA:3027
Thakker-Donnai Syndrome
Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Spina bifida, Sho... ORPHA:93323
Kbg Syndrome
Cervical ribs, Short neck, Thoracic kyphosis, Cutaneous syndactyly, Persistent open anterior font... ORPHA:2332
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Breath-Holding Spells
Pallor OMIM:607578
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Agenesis of corpus callosum, Porencephalic cyst, Polymicrog... OMIM:156810
Kbg Syndrome
Clinodactyly, Cervical ribs, Thoracic kyphosis, Vertebral arch anomaly, Vertebral fusion, Rib fus... OMIM:148050
Spina bifida, Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus ORPHA:945
Aarskog-Scott Syndrome
Finger syndactyly, Short palm, Short neck, Abnormality of the cervical spine, Joint hyperflexibil... ORPHA:915
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydactyly, Hypopla... OMIM:263540
Meckel Syndrome, Type 1
Intrauterine growth retardation, Agenesis of corpus callosum, Occipital encephalocele, Cerebellar... OMIM:249000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Joint contracture of the hand OMIM:211960
Retinitis Pigmentosa 73
Pallor OMIM:616544
Meckel Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Anence... ORPHA:564
Aicardi-Goutières Syndrome
Cerebral calcification, Plagiocephaly, Degeneration of the striatum, Porencephalic cyst, Microcep... ORPHA:51
Mosaic Trisomy 20
Clinodactyly, Kyphosis, Down-sloping shoulders, Scoliosis, Spinal canal stenosis, Vertebral fusio... ORPHA:1724
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Cyclic Vomiting Syndrome
Pallor, Microcephaly OMIM:500007
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Spina bifida, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Optic nerve hypoplasia, Convex nasal ridge, Micro... ORPHA:85284
Distal Monosomy 10Q
Abnormality of the outer ear, Craniosynostosis, Low-set ears, Cochlear malformation, Frontal boss... ORPHA:96148
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Hemoglobin D Disease
Pallor ORPHA:90039
Glutamine Deficiency, Congenital
Erythema, Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus callosum, Neonatal ... OMIM:610015
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:312150
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Microcephaly, Abnormal cerebral white matter morphology, Death in childhood OMIM:246450
Neu-Laxova Syndrome 1
Short umbilical cord, Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hy... OMIM:256520
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Myoclonus, Intractable, Neonatal
Pallor, Microcephaly, Progressive leukoencephalopathy OMIM:617235
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Intrauterine growth retardation, Bulbous nose, Multiple suture cranio... ORPHA:567
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:253290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Abnormal rib morphology, Short dista... ORPHA:1120
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Myelomeningocele, Hydroc... ORPHA:90652
Fryns Syndrome
Agenesis of corpus callosum, Hypoplasia of the optic tract, Wide nasal bridge, Dandy-Walker malfo... OMIM:229850
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Doors Syndrome
Prominent occiput, Broad nasal tip, Anteverted nares, Bulbous nose, Wide nasal bridge, Anterior p... ORPHA:79500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Microphthalmia With Limb Anomalies
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Death in infancy, Arrhinencephaly ORPHA:1106
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Plagiocephaly, Agenesis of corpus callosum, Frontal bossing, Absent s... ORPHA:2538
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Scoliosis, Vertebral fusion, Small hand,... OMIM:268310
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Sclerosis of skull base, Joint hypermobility, Scoliosis, Ver... OMIM:130720
Yunis-Varon Syndrome
Dolichocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypoplasia of the frontal lob... ORPHA:3472
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Sacral dimple, Abnormal form of the vertebral bodies, Short distal... ORPHA:1327
Frontometaphyseal Dysplasia 2
Dislocated radial head, Short metacarpal, Congenital hip dislocation, Scoliosis, Hip contracture,... OMIM:617137
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Microcephaly OMIM:600462
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Evans Syndrome
Pallor, Petechiae, Epistaxis ORPHA:1959
Bor Syndrome
Branchial cyst, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ear ... ORPHA:107
Spondylocarpotarsal Synostosis Syndrome
Brachydactyly, Vertebral segmentation defect, Carpal synostosis, Block vertebrae, Abnormality of ... OMIM:272460
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Cerebellar hypoplasia, Panhypopituit... ORPHA:672
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernumerary vertebrae, Scolio... OMIM:271520
Rheumatic Fever
Hemiballismus, Erythema, Pallor, Recurrent pharyngitis, Epistaxis ORPHA:3099
Pallor, Rhinitis, Skin ulcer ORPHA:507
Dravet Syndrome
Pallor, Global brain atrophy, Dysgenesis of the hippocampus ORPHA:33069
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:607155
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Low back pain, Vertebral... OMIM:203500
Aicardi Syndrome
Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Proximal placement of t... OMIM:304050
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Czeizel-Losonci Syndrome
Myelomeningocele, Thoracolumbar scoliosis, Ectrodactyly, 1-2 finger syndactyly, Spina bifida occu... ORPHA:2437
Fountain Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Short distal phalanx of finger, S... ORPHA:3219
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Microphthalmia, Syndromic 3
Missing ribs, Supernumerary ribs, Vertebral hypoplasia, Optic nerve hypoplasia, Optic nerve aplas... OMIM:206900
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida, Deviation of finger ORPHA:1104
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Type II lissencephaly, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, ... OMIM:253280
Neural tube defect, Hearing impairment, Abnormal pinna morphology ORPHA:79321
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Trisomy 20P
Brachydactyly, Abnormal hip bone morphology, Vertebral segmentation defect, Umbilical hernia, Fin... ORPHA:261318
Pallor, Skin ulcer ORPHA:848
Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormal thalamic MRI signal intensity... ORPHA:95512
Retinitis Pigmentosa 51
Pallor OMIM:613464
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Elevated circul... ORPHA:95613
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... OMIM:114290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cleft vertebral arch, Coronal craniosynostosis, Contracture of the distal interphalangeal joint o... ORPHA:83617
Raine Syndrome
Cerebral calcification, Plagiocephaly, Choanal stenosis, Midface retrusion, Choanal atresia, Micr... OMIM:259775
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Absent brainstem auditory... OMIM:609136
Nail-Patella Syndrome
Iliac horns, Disproportionate prominence of the femoral medial condyle, Absent distal interphalan... OMIM:161200
Benign Schwannoma
Schwannoma, Abnormal cranial nerve morphology, Abnormality of fibula morphology, Peripheral Schwa... ORPHA:252164
Non-Functioning Pituitary Adenoma
Central diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior hypopituitarism, Adreno... ORPHA:91349
Yunis-Varon Syndrome
Decreased calvarial ossification, Anteverted nares, Hypoplasia of the corpus callosum, Dolichocep... OMIM:216340
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Wormian bones, Hypoplasia of proximal radius, Tra... ORPHA:444077
Aicardi Syndrome
Butterfly vertebrae, Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Sm... ORPHA:50
Dominant Beta-Thalassemia
Hypopituitarism, Frontal bossing, Depressed nasal bridge, Pallor, Skin ulcer ORPHA:231226
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Koolen-De Vries Syndrome
Kyphosis, Joint hyperflexibility, Arachnodactyly, Scoliosis, Vertebral fusion, Vertebral segmenta... ORPHA:96169
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Pallor, Purpura OMIM:254450
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment ORPHA:95433
Charge Syndrome
Microtia, Aqueductal stenosis, External ear malformation, Aplasia/Hypoplasia of the earlobes, Low... ORPHA:138
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Aganglionic megacolon, Meningocele ORPHA:894
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Irida Syndrome
Pallor ORPHA:209981
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Beta-Thalassemia Major
Hypopituitarism, Frontal bossing, Depressed nasal bridge, Pallor, Skin ulcer ORPHA:231214
Hereditary Folate Malabsorption
Pallor, Cerebral calcification ORPHA:90045
Cold Agglutinin Disease
Pallor ORPHA:56425
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopit... ORPHA:91355
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Sacral dimple, Joint hypermobility, Spondylolisthesis, Scoliosis, Verte... OMIM:610443
Absence of the sacrum, Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Myhre Syndrome
Brachydactyly, Clinodactyly, Short neck, 2-3 toe syndactyly, Joint stiffness, Limitation of joint... OMIM:139210
Retinitis Pigmentosa 75
Pallor OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Anterior hypopituitarism, Elevated circulating growth hormone concentration, Adrenocorticotropic ... ORPHA:2965
Duane Retraction Syndrome
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Absent radius, Aplasia/Hypoplas... ORPHA:233
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Simpson-Golabi-Behmel Syndrome
Accelerated skeletal maturation, Toe syndactyly, Short 2nd finger, Finger syndactyly, Short neck,... ORPHA:373
American Trypanosomiasis
Pallor ORPHA:3386
Myopathy, Mitochondrial, And Ataxia
Pallor, Increased circulating prolactin concentration OMIM:617675
Senior-Loken Syndrome 8
Pallor OMIM:616307
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Sepsis In Premature Infants
Pallor, Abnormality of the anterior fontanelle, Petechiae, Purpura ORPHA:90051
Autosomal Recessive Malignant Osteopetrosis
Pallor, Craniosynostosis, Chronic rhinitis, Hydrocephalus ORPHA:667
Pagod Syndrome
Abnormal rib morphology, Spina bifida, Death in infancy, Meningocele, Optic atrophy, Encephalocele ORPHA:991
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Mosaic Trisomy 9
Supernumerary ribs, Short neck, Rocker bottom foot, Elbow dislocation, Scoliosis, Spina bifida, F... ORPHA:99776
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Depressed nasal ridge, Microcephaly, Delayed cranial suture clos... OMIM:105650
Tay-Sachs Disease
Pallor OMIM:272800
Elliptocytosis 1
Pallor OMIM:611804
Hyperactivity ORPHA:2157
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Short neck OMIM:600122
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormal calcification of the carpal bones, Hypophosphatemic... ORPHA:51608
Histiocytoid Cardiomyopathy
Pallor, Agenesis of corpus callosum, Hydrocephalus ORPHA:137675
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Microcephaly, Leukoencephalopathy ORPHA:20
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Recurrent upper and lower respiratory tract infections ORPHA:331206
Wolf-Hirschhorn Syndrome
Pseudoepiphyses of the metacarpals, Kyphosis, Abnormal form of the vertebral bodies, Sacral dimpl... OMIM:194190
Waldenström Macroglobulinemia
Pallor, Purpura, Epistaxis ORPHA:33226
Hallermann-Streiff Syndrome
Wormian bones, Slender long bone, Tracheomalacia, Thin ribs, Hyperlordosis, Joint hypermobility, ... OMIM:234100
Neurofibromatosis, Type I
Plexiform neurofibroma, Neurofibromas, Spinal neurofibromas, Tibial pseudarthrosis, Pheochromocyt... OMIM:162200
Degcags Syndrome
Plagiocephaly, Craniosynostosis, Intrauterine growth retardation, Agenesis of corpus callosum, Mi... OMIM:619488
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Anemic pallor, Agenesis of corpus callosum, Microcephaly, Hypoplasia of the corpus... OMIM:227646
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Clinodactyly of the 5th finger, Metatarsus adductus, Down-sloping sh... OMIM:227330
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Letterer-Siwe Disease
Pallor OMIM:246400
Cloacal Exstrophy
Myelomeningocele, Abnormality of fibula morphology, Spina bifida, Absent foot, Abnormality of tib... ORPHA:93929
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Abnormality of epiphysis morphology, Short ribs, Split hand, H... ORPHA:2092
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Childhood Absence Epilepsy
Pallor ORPHA:64280
Robinow Syndrome
Brachydactyly, Missing ribs, Radioulnar dislocation, Bifid distal phalanx of the thumb, Fused tho... ORPHA:97360
Rare Circulatory System Disease
Pallor ORPHA:98028
Incontinentia Pigmenti
Pallor, Microcephaly, Erythema OMIM:308300
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Death in childhood OMIM:557000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Tsh-Secreting Pituitary Adenoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:91347
Aregenerative Anemia
Pallor ORPHA:101096
Neu-Laxova Syndrome
Pterygium, Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, Scoliosis, Spina bifida, ... ORPHA:2671
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Thoracic hemivert... ORPHA:268810
Schinzel-Giedion Syndrome
Large earlobe, Abnormality of the outer ear, Wormian bones, Umbilical hernia, Abnormal helix morp... ORPHA:798
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary vertebrae, Spina bifida, Supernumerary ribs OMIM:193500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Jacobsen Syndrome
Broad hallux phalanx, Toe syndactyly, Missing ribs, Toe clinodactyly, Finger syndactyly, Short ne... ORPHA:2308
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sensorineural hearing ... ORPHA:1435
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Blackfan-Diamond Anemia
Pallor, Microcephaly, Depressed nasal bridge, Wide nasal bridge ORPHA:124
Fanconi Anemia, Complementation Group C
Microcephaly, Anemic pallor, Intrauterine growth retardation OMIM:227645
Koolen-De Vries Syndrome Due To A Point Mutation
Craniosynostosis, Calcaneovalgus deformity, Tracheomalacia, Kyphosis, Sacral dimple, Cervical spi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Craniosynostosis, Calcaneovalgus deformity, Tracheomalacia, Kyphosis, Sacral dimple, Cervical spi... ORPHA:363958
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Fanconi Anemia, Complementation Group E
Microcephaly, Anemic pallor OMIM:600901
Esophageal Atresia
Pallor, Choanal atresia ORPHA:1199
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Fanconi Anemia, Complementation Group A
Microcephaly, Anemic pallor OMIM:227650
Fanconi Anemia
Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Abnormality of the ulna, Finge... ORPHA:84
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Myelomeningocele, Block vertebrae, Congenital hip dislocation, Absence of the sacr... OMIM:306955
Vater/Vacterl Association
Absent radius, Occipital encephalocele, Preaxial polydactyly, Triphalangeal thumb, Short thumb, H... OMIM:192350
Split Cord Malformation
Hydrocephalus, Abnormality of the vertebral column, Abnormal thoracic spine morphology, Cervical ... ORPHA:573278
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Scoliosis, Tapered finger, Unilateral facial palsy OMIM:619480
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Von Hippel-Lindau Disease
Pallor ORPHA:892
Semilobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Proboscis, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Proboscis, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Proboscis, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Proboscis, Hydrocephalus ORPHA:93924
Craniofacial Microsomia
Cervical ribs, Block vertebrae, Vertebral hypoplasia, Occipital encephalocele, Partial duplicatio... OMIM:164210
Exstrophy-Epispadias Complex
Spina bifida, Abnormal joint morphology, Hydrocephalus ORPHA:322
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125


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.

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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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