Gene Summary

NEL-like 1
l7R6,  B230343H07Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Nell1em1(IMPC)Mbp HOM   Early adult 7.08×10-05
small kidney Nell1em1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Nell1em1(IMPC)Mbp HOM Early adult 3.83×10-09
abnormal vitreous body morphology Nell1em1(IMPC)Mbp HOM   Early adult 7.30×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Nell1 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 Nell1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Nemaline Myopathy 9
Micrognathia, Respiratory insufficiency, Scoliosis, Arthrogryposis multiplex congenita OMIM:615731
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Stillbirth OMIM:265880
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Micrognathia, Congenital hip dislocation, Scoliosis, Arthrogryposi... OMIM:618291
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Retrognathia, Micrognathia, Microcephaly, Short neck, Scoliosis, Neonatal death, Arthro... OMIM:611890
Aniridia 3
Cataract OMIM:617142
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... OMIM:313420
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Retrognathia, Micrognathia, Delayed cranial suture closure, Short neck, Mic... ORPHA:1832
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Spinal rigidity, Flexion contracture, Increased laxity of fingers, Microgn... ORPHA:75840
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... OMIM:208081
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract OMIM:190330
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Limited elbow ... ORPHA:266
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Metatropic Dysplasia
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Respirato... OMIM:156530
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Nathalie Syndrome
Cataract ORPHA:2663
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Camptodactyly, Distal arthrogryposis, Respiratory failure OMIM:618011
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory insufficiency, Microcephaly, Scoliosis, Neuropathic spin... ORPHA:370968
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy OMIM:618220
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Camptodactyly of finger, Scoliosis, Restrictive ... OMIM:614399
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Respiratory insufficiency, Scoliosis, Ectopic ossification... OMIM:135100
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity, Achilles tendon contracture OMIM:604801
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:616081
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Tremor, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency... ORPHA:2590
Galactosemia Iv
Cataract OMIM:618881
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... ORPHA:93311
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract OMIM:614292
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Vacterl Association With Hydrocephalus
Stillbirth, Radial club hand, Respiratory insufficiency, Abnormality of the vertebral column, Abn... OMIM:276950
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment ORPHA:190
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Ventilator depen... ORPHA:254875
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Respiratory failure OMIM:253300
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Tremor, Dyspnea,... ORPHA:90117
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus, Microcornea ORPHA:231736
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:613869
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Horizont... OMIM:256050
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Microcephaly, Respiratory insufficiency, Arthrogryposis multiplex congenita, Respir... OMIM:615330
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Death in infancy, Secondary microcephaly, Respiratory failure, Dystonia OMIM:617248
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Micrognathia, Respiratory insufficiency, Microcephaly, Coron... OMIM:215100
Kyphosis, Scoliosis, Progressive microcephaly, Respiratory failure, Limitation of joint mobility ORPHA:79327
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... ORPHA:2759
Wagner Vitreoretinopathy
Optic atrophy, Retinal pigment epithelial atrophy, Cataract, Peripheral tractional retinal detach... OMIM:143200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Microcephaly, Neuropathic spinal arthropathy, Dyspnea, Respiratory fai... ORPHA:352447
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Scoliosis, Hyperlordosis, Restrictive ventilatory de... OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... OMIM:606842
Stickler Syndrome Type 2
Corneal opacity, Retinal detachment, Cataract ORPHA:90654
Otopalatodigital Syndrome, Type Ii
Wide anterior fontanel, Sclerosis of skull base, Stillbirth, Spondylolysis, Micrognathia, Respira... OMIM:304120
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Carious teeth, Pathologic fracture, Arthrop... OMIM:146300
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Retinal detachment, Cataract, Snowflake vitreoretinal degeneration OMIM:193230
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... ORPHA:1473
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hip contracture, Genu recurvatum, Exaggerated startle response, Flexion contracture, Retro... OMIM:617301
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy OMIM:611131
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Respiratory insufficiency, Synostosis of joints, Ectopic ossification in ligamen... ORPHA:337
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract OMIM:616468
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Retinal detachment, Cataract, Macular atrophy OMIM:212550
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Microcephaly, Neonatal death, Respiratory failure OMIM:610127
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Intention tremor, Scoliosis, Tremor, Respiratory failure OMIM:616505
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Dystonia, Death in infancy OMIM:616277
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral dens... OMIM:166220
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Scoliosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory de... ORPHA:98913
Sandestig-Stefanova Syndrome
Retrognathia, Prominent metopic ridge, Short neck, Camptodactyly, Primary microcephaly, Respirato... OMIM:618804
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Flexion contracture, Retrognathia, Microcephaly, Camptodactyly of finger, Death in infancy, Respi... ORPHA:1194
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure OMIM:618637
Crisponi Syndrome
Kyphosis, Flexion contracture, Micrognathia, Respiratory insufficiency, Camptodactyly of finger, ... ORPHA:1545
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Micropenis, Splenomegaly,... OMIM:613673
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Joint dislocation, Retrognathia, Micrognathia, Osteopenia, Scoliosis, Osteomalac... ORPHA:1901
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Joint dislocation, Scoliosis, Abnormal form of the vertebral bodi... ORPHA:93160
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Flexion contracture, Scoliosis, Thoracic kyphosis, Recurrent aspirat... ORPHA:70
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Bruck Syndrome
Kyphosis, Joint stiffness, Recurrent fractures, Respiratory insufficiency, Platyspondyly, Scolios... ORPHA:2771
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy OMIM:613731
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... ORPHA:1310
Intermediate Nemaline Myopathy
Respiratory failure, Arthrogryposis multiplex congenita, Flexion contracture, Multiple prenatal f... ORPHA:171433
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Hyperlordosis, Restrictive ventilatory defect, Cardiorespiratory arrest, ... ORPHA:26791
Sillence Syndrome
Back pain, Intervertebral disc degeneration, Platyspondyly, Scoliosis, Camptodactyly, Abnormal ve... ORPHA:3168
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Micrognathia, Fractures of the long bones, Congenital hip dislocation, Scoliosis, Respiratory fai... ORPHA:496641
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Arthrogryposis multiplex congenita, Neonatal respiratory distress, Respirato... OMIM:616867
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Retrognathia, Micrognathia, Short neck, Abnormal form of the v... ORPHA:3015
Arthrogryposis Multiplex Congenita 6
Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex congenita, Respira... OMIM:619334
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Optic disc pallor, Cataract, Macular atrophy OMIM:614500
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Cataract, Stage 5 ... ORPHA:3156
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, In... ORPHA:289176
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Microcephaly, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia OMIM:108450
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Optic disc coloboma, Peters anomaly, Op... OMIM:120200
Hereditary Motor And Sensory Neuropathy, Type Iic
Scoliosis, Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Genu varum, ... OMIM:600785
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract OMIM:263100
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Kyphoscoliosis, Flexion contracture of finger, Ankle flexion contracture, Flexio... ORPHA:2020
Leber Congenital Amaurosis 8
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma OMIM:613835
Congenital Multicore Myopathy With External Ophthalmoplegia
Flexion contracture, Scoliosis, Joint laxity, Pneumonia, Abnormal respiratory system physiology, ... ORPHA:98905
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Sinusitis, Osteomyelitis, Pleural empyema, Cough, Pneumonia, Arthralgia/arthritis, Abnormal respi... ORPHA:449280
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Triosephosphate Isomerase Deficiency
Respiratory distress, Kyphosis, Respiratory insufficiency, Death in adolescence, Tremor, Death in... OMIM:615512
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Spar... OMIM:264700
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia, Enamel hypomineral... OMIM:307800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Spar... OMIM:277440
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Lethal Congenital Contracture Syndrome 2
Micrognathia, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Respiratory insufficiency, Scoliosis, Hyperlordosis, Aspiration, Hypoventila... ORPHA:258
Loeys-Dietz Syndrome 6
Intervertebral disc degeneration, Scoliosis, Knee osteoarthritis, Hip osteoarthritis OMIM:619656
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Micrognath... OMIM:259720
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis ORPHA:1436
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to ... OMIM:604320
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Spar... OMIM:600081
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Dystonia OMIM:256000
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Wide cranial sutures, Delayed eruption o... ORPHA:289157
Neu-Laxova Syndrome
Opisthotonus, Flexion contracture, Retrognathia, Micrognathia, Osteopenia, Microcephaly, Scoliosi... ORPHA:2671
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Respiratory failure, Limb dystonia ORPHA:363400
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Abnormal lumbar spine morphology, Scoliosis, Osteomalacia, Thin b... ORPHA:249
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity, Achilles tendon contracture OMIM:603689
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
X-Linked Hypophosphatemia
Craniosynostosis, Reduced bone mineral density, Genu varum, Arthritis, Vertebral hyperostosis, Ge... ORPHA:89936
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Respiratory failure, Death in infancy, Opisthotonus OMIM:610678
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Widely patent fontanelles and sutures, Delayed epi... OMIM:241530
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Retrognathia, Micrognathia, Microcephaly, Dyspnea, Respiratory failure ORPHA:2707
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Hypospadias, Micropenis OMIM:250790
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Respiratory failure OMIM:613954
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Spinocerebellar Ataxia Type 1
Postural tremor, Respiratory failure, Dystonia ORPHA:98755
Wolfram Syndrome 1
Megaloblastic anemia, Hydroureter, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Catar... OMIM:222300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Hemivertebrae, Short neck, Hypoplasia of the maxilla, ... ORPHA:96334
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Genu valgu... OMIM:305620
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Retrognathia, Micrognathia, Osteopenia, Short neck, Osteomalacia, ... ORPHA:2636
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Opisthotonus, Microcephaly, Death in childhood, Primary microcephaly, Limb dystonia, Respiratory ... OMIM:619847
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Aneurysm-Osteoarthritis Syndrome
Dental malocclusion, Spondylolisthesis, Osteoarthritis of the small joints of the hand, Intervert... ORPHA:284984
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Epiphyseal stippling OMIM:614862
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Immunodeficiency 54
Microcephaly, Respiratory insufficiency, Respiratory failure OMIM:609981
Short Rib-Polydactyly Syndrome
Acetabular spurs, Abnormal bone ossification, Reduced bone mineral density, Absent or minimally o... ORPHA:1505
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Microcephaly, Elbow flexion contracture, Knee flexion contractu... OMIM:608836
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Flexion contracture, Retrognathia, Wrist flexion contracture, Camp... ORPHA:254528
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... ORPHA:79126
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Flexion contracture, Respiratory insufficiency, Scoliosis, Ost... ORPHA:365
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Ear-Patella-Short Stature Syndrome
Respiratory distress, Craniosynostosis, Retrognathia, Micrognathia, Camptodactyly of finger, Micr... ORPHA:2554
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced bone mineral density, Osteopenia, Respiratory insufficiency, Microcephaly, Scoliosis, Tac... OMIM:613658
Infantile Systemic Hyalinosis
Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Short neck, Osteomalac... ORPHA:2176
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Osteomalacia, Rickets ORPHA:89937
Myhre Syndrome
Joint stiffness, Respiratory insufficiency, Short neck, Enlarged vertebral pedicles, Platyspondyl... OMIM:139210
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Cataract, Corneal erosion, Proteinuria, Anterior lentic... OMIM:203780
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Death in adolescence, Osteoporosis, Rickets OMIM:560000
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Severe Congenital Nemaline Myopathy
Respiratory failure, Arthrogryposis multiplex congenita, Flexion contracture, Multiple prenatal f... ORPHA:171430
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Costello Syndrome
Wide anterior fontanel, Tracheomalacia, Hyperextensibility of the finger joints, Micrognathia, Re... OMIM:218040
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Flexion contracture, Micrognathia, Microcephaly, Short neck, Metopic synostosis,... OMIM:300868
Arterial Tortuosity Syndrome
Respiratory distress, Craniosynostosis, Scoliosis, Cardiorespiratory arrest, Dyspnea, Hip disloca... ORPHA:3342
Pierson Syndrome
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Uveal e... OMIM:609049
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Rickets, Wheezing OMIM:211600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Death in childhood, Bradypnea, Tremor, Respiratory failure OMIM:617186
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tremor, Dyspnea, Respiratory failure, Dystonia ORPHA:330021
Mccune-Albright Syndrome
Dental malocclusion, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dysplasia of the ... ORPHA:562
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Intervertebral disc degeneration, M... ORPHA:79474
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Stippled calcification in carpal bones, Nonproductive cough, Res... ORPHA:60025
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Lens luxation, Absence of renal corticomedullary differe... OMIM:120330
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Intention tremor, Microcephaly, Choreoathetosis, Recurrent pneumoni... ORPHA:209905
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Micrognathia, Short neck, Neonatal death, Pneumothorax, Respiratory failure OMIM:266910
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Lowe Oculocerebrorenal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of finger, Platyspondyly, Scoliosis, Osteo... OMIM:309000
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Choreoathetosis, Primary microcephaly, Pneumothorax, Respiratory failure ORPHA:445038
Loeys-Dietz Syndrome 3
Dental malocclusion, Spondylolisthesis, Craniosynostosis, Intervertebral disc degeneration, Retro... OMIM:613795
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, R... OMIM:607625
Snakebite Envenomation
Epistaxis, Respiratory failure, Respiratory paralysis ORPHA:449285
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigm... OMIM:268315
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Respiratory failure, Dystonia ORPHA:70474
Infantile Krabbe Disease
Respiratory distress, Ankle clonus, Respiratory failure, Opisthotonus ORPHA:206436
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Hartsfield Syndrome
Microcephaly, Hypoplasia of the frontal bone, Craniosynostosis OMIM:615465
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Hypercholanemia, Familial 1
Rickets OMIM:607748
Respiratory distress, Osteomyelitis, Back pain, Miscarriage, Tremor, Pneumonia, Stiff neck, Respi... ORPHA:533
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Riddle Syndrome
Microcephaly, Arthritis, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive... ORPHA:420741
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis OMIM:617913
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Respiratory failure, Head titubation ORPHA:3240
Leigh Syndrome
Multiple joint contractures, Athetosis, Choreoathetosis, Abnormal pattern of respiration, Respira... ORPHA:506
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density ORPHA:157215
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Respiratory failure ORPHA:803
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Occipital Horn Syndrome
Kyphosis, Delayed cranial suture closure, Osteopenia, Platyspondyly, Scoliosis, Osteomalacia, Ost... ORPHA:198
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Tremor, Respiratory failure, Dystonia OMIM:610505
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Digeorge Syndrome
Asthma, Chronic pulmonary obstruction, Intervertebral disc degeneration, Micrognathia, Microcepha... OMIM:188400
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Osteopenia, Kyphoscoliosis, Respiratory failure ORPHA:14
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Joint swelling, Taurodontia, Joint stiffness, Recurrent fractures, Micrognathia, Respir... ORPHA:534
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Hypospadias, Leukope... ORPHA:124
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure, Natal tooth ORPHA:158687
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Atelosteogenesis Type Iii
Laryngotracheomalacia, Knee dislocation, Micrognathia, Respiratory insufficiency, Ulnar deviation... ORPHA:56305
Oculoauricular Syndrome
Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... OMIM:612109
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Respiratory failure ORPHA:280210
Boutonneuse Fever
Respiratory failure ORPHA:83313
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Respiratory failure ORPHA:88618
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Stiff neck, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Lenticonus, Cataract, Renal insufficiency, Pro... OMIM:308940
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Nijmegen Breakage Syndrome
Retrognathia, Microcephaly, Short neck, Recurrent pneumonia, Respiratory failure ORPHA:647
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Hypophosphatemic Rickets
Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Osteomalacia, Patchy v... ORPHA:437
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Secondary microcephaly, Respiratory failure OMIM:618329
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal dental enamel morphology, Retrognathia, Micrognathia, Microcephaly... ORPHA:2556
Rickets ORPHA:213
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Joint hypermobility, Hemivertebrae, Metopic synostosis, Sag... ORPHA:500150
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hypochromic microcytic anemia, HbH h... OMIM:141750
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Pneumothorax, Hume... ORPHA:3404
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Shwachman-Diamond Syndrome 1
Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Nephrocalcinosi... OMIM:260400
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Osteoporosis, Enamel hypoplasia, Pneumonia, Pneumothorax, Dyspnea,... ORPHA:79404
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Osteoporosis, Rickets OMIM:212750
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the frontal bone ORPHA:306542
Bloom Syndrome
Chronic pulmonary obstruction, Retrognathia, Micrognathia, Pneumonia, Rhinitis, Respiratory failure ORPHA:125
Wilson Disease
Hand tremor, Chondrocalcinosis, Osteoarthritis, Osteomalacia, Osteoporosis, Tremor, Limb dystonia... OMIM:277900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Tachypnea, Respiratory failure, Dystonia OMIM:618278
Isolated Exencephaly
Hypoplasia of the frontal bone ORPHA:563612
Respiratory distress, Osteomyelitis, Nonproductive cough, Pneumothorax, Productive cough, Pneumon... ORPHA:31204
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Back pain, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea... ORPHA:340
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Hypoplasia of penis, Optic atrophy, Hydronephrosis, Anemia ORPHA:847
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Microcephaly, Death in infancy, Respiratory failure OMIM:252010
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Glomerulonephritis, Leuk... ORPHA:99867
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Renal tubular dysfunction, Chronic kidney disease, Tubulointerstitial nephritis, Imbalanced hemog... ORPHA:330015
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Osteomalacia OMIM:600740
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Reduced bone mineral density, Osteomalacia, Inc... ORPHA:18
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hypochromic microcytic anemia, Hydro... OMIM:301040
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Niemann-Pick Disease Type C
Axial dystonia, Aspiration pneumonia, Intention tremor, Respiratory insufficiency, Tremor, Limb d... ORPHA:646
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... ORPHA:79138
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone OMIM:229400
Norrie Disease
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Anterior cha... ORPHA:649
Autosomal Recessive Polycystic Kidney Disease
Micrognathia, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Respiratory failure ORPHA:731
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hypophosphatemic rickets, Calcification of the auricular cartilage, Stipple... ORPHA:51608
Steinert Myotonic Dystrophy
Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Respiratory failur... ORPHA:273
Neurofibromatosis Type 2
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract ORPHA:637
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... OMIM:619539
Familial Hypocalciuric Hypercalcemia
Chondrocalcinosis, Osteomalacia ORPHA:405
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Cystinosis, Nephropathic
Genu valgum, Hypophosphatemic rickets, Rickets OMIM:219800
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, Microcornea, Iris colob... OMIM:300166
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Osteomyelitis, Osteomalacia, Arthritis, Pneumonia, Bronchiectasis OMIM:619381
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170


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 Nell1

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 Nell1.

No publications found that use IMPC mice or data for Nell1.

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MGI Allele Allele Type Produced
Nell1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Nell1tm43045(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nell1tm43045(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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