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Gene: Nell1 MGI:2443902

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Gene Summary

Name:
NEL-like 1
Synonyms:
l7R6,  B230343H07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Nell1em1(IMPC)Mbp HOM Early adult 5.05×10-09
cataract Nell1em1(IMPC)Mbp HOM   Early adult 3.36×10-06
small kidney Nell1em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Nell1em1(IMPC)Mbp HOM Early adult 8.70×10-05
abnormal retina morphology Nell1em1(IMPC)Mbp HOM Early adult 6.55×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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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
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Atlantoaxial instability, Atlantoaxial d... OMIM:600561
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Respiratory insufficiency, Hyperextensibility of the finger joints, Anteverted nar... OMIM:313420
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes... OMIM:300717
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Pyknoachondrogenesis
Stillbirth OMIM:265880
Bardet-Biedl Syndrome 18
Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Scoliosis, Kyphosis, Microcephaly, Short neck, Micrognathia, Respiratory insufficie... OMIM:611890
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Anteverted nares, Delayed cranial suture closure, Mandibular aplasia, D... ORPHA:1832
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, Kyphosis, Short neck, Microgn... ORPHA:75840
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Cataract 42
Cataract, Developmental cataract OMIM:115900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Genu valgum, Relatively short spine, Respiratory insufficiency,... OMIM:156530
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Scoliosis, Microcephaly, Respiratory failure, Multiple joint contractu... ORPHA:370968
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hyperekplexia 4
Kyphoscoliosis, Camptodactyly, Flexion contracture, Distal arthrogryposis, Respiratory failure OMIM:618011
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Wide anterior fontanel, Death in infancy OMIM:618240
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Joint contracture, Death in childhood OMIM:616081
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiple... OMIM:618291
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Trichomegaly
Cataract OMIM:190330
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Camptodactyly of finger, Scoliosis, Respiratory insufficiency OMIM:614399
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin... ORPHA:1473
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle... ORPHA:266
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Respiratory insufficiency, Scoliosis, Ectopic ossification... OMIM:135100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Scoliosis, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:2590
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Congenital Myopathy 14
Elbow flexion contracture, Death in infancy, Hip contracture, Respiratory insufficiency due to mu... OMIM:618414
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column,... OMIM:276950
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disk degeneration, Multiple small vertebral fractures, Decreased hip ... ORPHA:93311
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Microcephaly, Congenital contracture OMIM:225753
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Microcephaly, Achilles tendon contracture, Respiratory failur... OMIM:606612
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Cataract, Retinal degeneration, Rod-... OMIM:204200
Nemaline Myopathy 8
Respiratory failure, Flexion contracture, Death in infancy OMIM:615348
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Alg1-Cdg
Progressive microcephaly, Scoliosis, Limitation of joint mobility, Kyphosis, Respiratory failure ORPHA:79327
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Anteverted nares, Scoliosis, Tremor, Intention tremor, Flexion contracture, Respiratory failure, ... OMIM:616505
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,... ORPHA:3156
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity, Achilles tendon contracture OMIM:604801
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Scoliosis, Respiratory i... ORPHA:254875
Neuropathy, Congenital Hypomyelinating, 3
Retrognathia, Respiratory insufficiency, Microcephaly, Micrognathia, Dystonia, Limb joint contrac... OMIM:618186
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreon... OMIM:204000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Choanal atresia, Joint hypermobility, Respi... ORPHA:2759
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Glycine Encephalopathy With Normal Serum Glycine
Retrognathia, Genu recurvatum, Anteverted nares, Elbow flexion contracture, Exaggerated startle r... OMIM:617301
Sandestig-Stefanova Syndrome
Convex nasal ridge, Retrognathia, Camptodactyly, Prominent metopic ridge, Short neck, Respiratory... OMIM:618804
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Wide anterior fontanel, Kyphosis, Neonatal death, Depressed nasal bridge, Platyspondyly, Respirat... OMIM:616482
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal atrophy, Photoreceptor layer loss on mac... OMIM:616959
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Arthropathy, Carious teeth, Osteomalacia, Recurrent fractures, Chon... OMIM:146300
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Tremor, Microcephaly, Dystonia, Respiratory failure, Choreoath... OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Respiratory insufficiency, Microcephaly, Respiratory failure, Arthrogryposis multip... OMIM:615330
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Kyphosis, Microcephaly, Respiratory insufficiency due to muscle weakness, Respir... ORPHA:352447
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Retrognathia, Osteopenia, Joint dislocation, Osteomalacia, Scoliosis, Osteoporosis, Join... ORPHA:1901
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... OMIM:618173
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Otosclerosis, Scoliosis, Kyphosis, Biconcave flattened vertebrae, D... OMIM:166220
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Microcephaly, Neonatal death, Respiratory failure, Wide nasal bridge OMIM:610127
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Immunodeficiency 95
Respiratory failure, Recurrent viral upper respiratory tract infections OMIM:619773
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Nephronophthisis 9
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Retinal degeneration, Stage 5 chro... OMIM:613824
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor OMIM:618637
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Tremor ORPHA:90117
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Death in infancy, Microcephaly, Camptodactyly of finger, Flexion contracture, Respi... ORPHA:1194
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Joint dislocation, Abnormal form of the vertebral bodies, Bone cyst, Scoliosis, Abno... ORPHA:93160
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Hamstring contractures, Achilles tendon contracture, Respiratory insuff... OMIM:310200
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Dystonia, Death in infancy OMIM:616277
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Congenital Myopathy 10B, Mild Variant
Scoliosis, Hyperlordosis, Achilles tendon contracture, Knee contracture, Respiratory failure, Elb... OMIM:620249
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Flexion contracture, Respiratory failure, Neonatal respiratory distr... OMIM:616867
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Scoliosis, Hip contracture, Knee flexion contracture, Hypoplasia of the nas... OMIM:118650
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Respiratory failure, Arthrogryposis multiplex congenita, Flexion con... ORPHA:171433
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Anemia of inadequate production, Persistence of hemoglob... OMIM:613673
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Hyperlordosis, Cardiorespiratory arrest, Respiratory failure, Depressed n... ORPHA:26791
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Mandibular prognathia, Death in infancy, Joint contracture, Knee contracture,... OMIM:620278
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Sillence Syndrome
Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Flat acetabular roof,... ORPHA:3168
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Secondary microcephaly, Scoliosis, Fractures ... ORPHA:496641
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth... ORPHA:289176
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Arthrogryposis multipl... OMIM:619334
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc... ORPHA:263479
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Rickets of the lower limbs, Delayed epip... OMIM:600785
Proximal Spinal Muscular Atrophy
Intercostal muscle weakness, Elbow flexion contracture, Scoliosis, Thoracic kyphosis, Respiratory... ORPHA:70
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal... OMIM:615986
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress OMIM:619057
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Respiratory failure, Neonatal respiratory distress, Wide nasal bridge ORPHA:168486
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract ORPHA:250984
Radio-Renal Syndrome
Convex nasal ridge, Retrognathia, Abnormal form of the vertebral bodies, Short neck, Micrognathia... ORPHA:3015
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Scoliosis, Thoracic kyphoscoliosis ORPHA:98913
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed eruption of teeth, Delayed epiphyseal ossification, Enlargement of the wrists, E... OMIM:277440
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Sponastrime Dysplasia
Kyphoscoliosis, Biconcave vertebral bodies, Aplasia of the nasal bone, Joint hypermobility, Hip d... ORPHA:93357
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Arthrogryposis multiplex congenita, Progressive microcephaly ORPHA:2254
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corneal opacity,... OMIM:152950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cystic renal dysplasia, Ectopic kidney, Optic disc pallor OMIM:613730
Papillorenal Syndrome
Stage 5 chronic kidney disease, Macular degeneration, Chorioretinal atrophy, Lens luxation, Nephr... OMIM:120330
Neu-Laxova Syndrome
Rickets, Retrognathia, Osteopenia, Pterygium, Scoliosis, Osteoporosis, Depressed nasal ridge, Mic... ORPHA:2671
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita OMIM:607598
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement of the wrists, E... OMIM:264700
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint hypermobility, Respiratory failure, Scoliosis, Flexion contracture ORPHA:98905
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Respiratory failure ORPHA:70472
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hip subluxation, Stillbirth, Increased bone mineral density,... OMIM:259720
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Depressed nasal bridge, Epiphyseal stippling OMIM:614862
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Tremor, Death in adolescence, Kyphosis, Death in infancy, Respiratory ... OMIM:615512
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro... OMIM:222300
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Genu valgum, Spinal canal stenosis, Osteoarthritis, Enamel hyp... OMIM:307800
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Scoliosis, Intercostal muscle weakness OMIM:606071
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, S... OMIM:600081
Fibrous Dysplasia Of Bone
Rickets, Abnormal lumbar spine morphology, Osteomalacia, Abnormal bone structure, Scoliosis, Cort... ORPHA:249
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Stillbirth, Spondylolysis, Platyspondyly, Respiratory insufficiency, Wide anterio... OMIM:304120
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Tremor, Limb dystonia ORPHA:363400
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Spinal rigidity OMIM:620326
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Ankle flexion contracture, Scoliosis, Elbow flexion contracture, Hyperlordosis, C... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Respiratory failure, Opisthotonus, Death in infancy OMIM:610678
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Retrognathia, Osteopenia, Long nose, Abnormal intervertebral disk morphology, Abnormal f... ORPHA:2636
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Genu valgum, Arthritis, Abnormal d... ORPHA:89936
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Respiratory insufficiency, Scoliosis, Hyperlordosis, ... ORPHA:258
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Enlargement of the wrists, En... OMIM:241530
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract OMIM:613763
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Anteverted nares, Wrist flexion contracture, Camptodactyly, Flexion contracture of ... ORPHA:254528
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Dystonia OMIM:256000
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic rhinitis, ... OMIM:608647
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Miscarriage, Microcephaly, Anteverted nares, Scoliosis, Hemivertebr... ORPHA:96334
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Osteochondritis dissecans, Spondylolisthesis, Intervertebral disk degeneration, Kne... ORPHA:284984
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... OMIM:300578
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Ankle clonus OMIM:613954
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Respiratory failure OMIM:605711
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed eruption of teeth, Delayed epiphyseal ossification, Enlargement of the wrists, E... ORPHA:289157
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Camptodactyly of finger, Ventilator dependence with inability to wean OMIM:604320
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Rod-cone dystrophy, Cataract OMIM:612674
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Elbow flexion contracture, Nasal congestion, Death in infancy, Microce... OMIM:608836
Proximal Myotonic Myopathy
Cataract ORPHA:606
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Enlargement of the wrists, En... OMIM:300554
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Limb dystonia, Microcephaly, Opisthotonus, Respiratory failure, Primary micro... OMIM:619847
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Microcephaly OMIM:609981
Antiphospholipid Syndrome, Familial
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Keratitis, Auto... OMIM:107320
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Spinocerebellar Ataxia Type 1
Postural tremor, Respiratory failure, Dystonia ORPHA:98755
Amyloidosis, Finnish Type
Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 ... OMIM:105120
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Myhre Syndrome
Enlarged vertebral pedicles, Respiratory insufficiency, Mandibular prognathia, Limitation of join... OMIM:139210
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Neurogenic bladder OMIM:619780
Geleophysic Dysplasia 3
Limited elbow movement, Anteverted nares, Limited wrist movement, Respiratory failure, Bulbous no... OMIM:617809
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Achilles tendon contracture OMIM:603689
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Microcephaly, Respiratory failure OMIM:250940
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Retrognathia, Micrognathia, Microcephaly ORPHA:2707
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteomalacia, Short neck, Rec... ORPHA:2176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Death in childhood, Death in adolescence, Osteoporosis OMIM:560000
Scedosporiosis
Septic arthritis, Respiratory failure, Arthralgia/arthritis, Osteomyelitis ORPHA:449280
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Rickets, Osteomalacia ORPHA:89937
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Secondary microcephaly, Metopic synostosis, Anteverted nares, Elbow flexion contracture, Death in... OMIM:300868
Loeys-Dietz Syndrome 6
Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthri... OMIM:619656
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mccune-Albright Syndrome
Aneurysmal bone cyst, Scoliosis, Polyostotic fibrous dysplasia, Nasal congestion, Monostotic fibr... ORPHA:562
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Respiratory failure, Arthrogryposis multiplex congenita, Flexion con... ORPHA:171430
Arterial Tortuosity Syndrome
Short nose, Scoliosis, Respiratory failure, Cardiorespiratory arrest, Joint hypermobility, Cranio... ORPHA:3342
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Micropenis, Macrocytic anemia, Neutropenia OMIM:620501
Costello Syndrome
Limited elbow movement, Tracheomalacia, Respiratory insufficiency, Wide anterior fontanel, Hypere... OMIM:218040
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Recurrent upper respiratory tract infections OMIM:263000
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Atypical Werner Syndrome
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Intervertebral dis... ORPHA:79474
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Microcep... OMIM:613658
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata... OMIM:203780
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, S... OMIM:300009
Ear-Patella-Short Stature Syndrome
Retrognathia, Mandibular aplasia, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathi... ORPHA:2554
Loeys-Dietz Syndrome 3
Osteopenia, Retrognathia, Osteochondritis dissecans, Hip osteoarthritis, Spondylolisthesis, Inter... OMIM:613795
Aniridia 3
Cataract, Aniridia OMIM:617142
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Snakebite Envenomation
Respiratory failure, Epistaxis ORPHA:449285
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Tremor, Torticollis, Death in childhood OMIM:617186
Isolated Arrhinia
Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal cartilage... ORPHA:1134
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia OMIM:250790
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Dystonia, Respiratory failure, N... OMIM:607625
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Micropenis OMIM:610125
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Depressed nasal bridge OMIM:617895
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Scoliosis, Hyperlordosis, Osteoporosis, Respiratory insufficiency due ... ORPHA:365
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasi... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Epistaxis OMIM:211600
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
3-Methylglutaconic Aciduria Type 7
Primary microcephaly, Respiratory failure, Choreoathetosis, Opisthotonus ORPHA:445038
Occipital Horn Syndrome
Rickets, Osteopenia, Abnormality of the wrist, Platyspondyly, Genu valgum, Osteomalacia, Scoliosi... ORPHA:198
Hypercholanemia, Familial 1
Rickets OMIM:607748
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure, Head titubation, Vestibular areflexia ORPHA:3240
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re... OMIM:243605
Beta-Thalassemia Intermedia
Proximal tubulopathy, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F,... ORPHA:231222
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Primary Ciliary Dyskinesia
Nasal congestion, Nasal polyposis, Chronic rhinitis, Respiratory failure, Neonatal respiratory di... ORPHA:244
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Depressed nasal ridge ORPHA:1861
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets ORPHA:157215
Nijmegen Breakage Syndrome
Convex nasal ridge, Retrognathia, Microcephaly, Short neck, Prominent nasal bridge, Prominent nos... ORPHA:647
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Knobloch Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Infantile Krabbe Disease
Respiratory failure, Opisthotonus, Ankle clonus ORPHA:206436
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure, Natal tooth ORPHA:158687
Lowe Oculocerebrorenal Syndrome
Rickets, Wrist swelling, Genu valgum, Platyspondyly, Pathologic fracture, Osteomalacia, Scoliosis... OMIM:309000
Hartsfield Syndrome
Microcephaly, Craniosynostosis, Hypoplasia of the frontal bone, Wide nose OMIM:615465
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Platyspondyly, Delayed eruption of teeth, Respiratory insufficiency, Abnormal dental... ORPHA:534
Mercury Poisoning
Respiratory failure, Tremor, Dystonia ORPHA:330021
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger, Bifid nose, W... ORPHA:306542
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Leigh Syndrome
Athetosis, Dystonia, Choreoathetosis, Respiratory failure, Multiple joint contractures ORPHA:506
Abetalipoproteinemia
Osteopenia, Respiratory failure, Kyphoscoliosis ORPHA:14
Listeriosis
Stiff neck, Miscarriage, Tremor, Back pain, Septic arthritis, Respiratory failure, Osteomyelitis ORPHA:533
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Hypospadias ORPHA:98791
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Respiratory failure, Recurrent upper respiratory tract infections OMIM:620296
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory insufficiency, Tremor, Death in infancy, Dystonia, Respiratory fa... OMIM:610505
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy OMIM:265120
Boutonneuse Fever
Respiratory failure ORPHA:83313
Atelis Syndrome 2
Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Vitreo... OMIM:620185
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Riddle Syndrome
Arthritis, Neonatal asphyxia, Microcephaly, Recurrent sinusitis, Respiratory failure ORPHA:420741
Brain-Lung-Thyroid Syndrome
Intention tremor, Microcephaly, Dystonia, Respiratory failure, Neonatal respiratory distress, Cho... ORPHA:209905
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... ORPHA:124
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Respiratory failure ORPHA:88618
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure OMIM:613845
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood OMIM:220110
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Short nose, Metopic synostosis, Hemivertebrae, Hyperextensibility at elbow, Sagit... ORPHA:500150
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Infant Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70587
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck ORPHA:2912
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Acute Lung Injury
Respiratory failure ORPHA:178320
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, S... ORPHA:1652
Adult Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70578
Isolated Exencephaly
Hypoplasia of the frontal bone, Depressed nasal bridge ORPHA:563612
3-Methylglutaconic Aciduria, Type Viii
Secondary microcephaly, Tremor, Death in infancy, Respiratory arrest, Dystonia, Neonatal death, R... OMIM:617248
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Digeorge Syndrome
Intervertebral disk degeneration, Scoliosis, Microcephaly, Micrognathia, Recurrent sinusitis, Pil... OMIM:188400
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Celiac Disease, Susceptibility To, 1
Rickets, Enamel hypoplasia, Osteoporosis OMIM:212750
Asbestos Intoxication
Respiratory failure ORPHA:2302
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Secondary microcephaly OMIM:618329
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Cystinosis
Rickets ORPHA:213
Frontofacionasal Dysplasia
Short nose, Midline defect of the nose, Hypoplasia of the frontal bone, Bifid nose, Underdevelope... OMIM:229400
Staphylococcal Necrotizing Pneumonia
Respiratory failure ORPHA:36238
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Sacral dimple, Wide nose, Abnormal dental enamel morphology, Mandibular aplasia, Mi... ORPHA:2556
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Persistence of hemoglobin F OMIM:619769
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure ORPHA:542323
Acute Interstitial Pneumonia
Respiratory failure ORPHA:79126
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... ORPHA:91500
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Aplasia/Hyp... ORPHA:649
Ulbright-Hodes Syndrome
Convex nasal ridge, Humeroradial synostosis, Short neck, Micrognathia, Ovoid thoracolumbar verteb... ORPHA:3404
Fraser Syndrome 2
Respiratory failure, Underdeveloped nasal alae, Short neck, Wide nose OMIM:617666
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy OMIM:610921
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Hypoplasia of penis, Hydronephrosis, Abnormal hemoglobin ORPHA:847
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Nephrocalcinosis, Thro... OMIM:260400
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Bloom Syndrome
Respiratory failure, Retrognathia, Micrognathia, Rhinitis ORPHA:125
Fanconi-Bickel Syndrome
Rickets, Osteopenia ORPHA:2088
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t... ORPHA:637
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Respiratory failure, Microcephaly, Death in infancy OMIM:252010
Wilson Disease
Hyposmia, Osteomalacia, Tremor, Limb dystonia, Osteoporosis, Dystonia, Osteoarthritis, Joint hype... OMIM:277900
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... ORPHA:99867
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Lead Poisoning
Abnormal T cell morphology, Anemia, Chronic kidney disease, Imbalanced hemoglobin synthesis, Tubu... ORPHA:330015
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Respiratory failure, Dystonia, Death in childhood OMIM:618278
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Chondrocalcinosis OMIM:600740
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Respiratory insufficiency due to muscle weakness, Osteomal... ORPHA:18
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Respiratory failure, Stippled calcification in carpal bones ORPHA:60025
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory failure, Enamel hypoplasia, Osteoporosis ORPHA:79404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hemorrhagic Fever-Renal Syndrome
Respiratory failure, Epistaxis, Back pain ORPHA:340
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:555874
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory failure OMIM:610913
Niemann-Pick Disease Type C
Axial dystonia, Respiratory insufficiency, Tremor, Limb dystonia, Intention tremor, Dystonia, Res... ORPHA:646
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Osteoporosis ORPHA:309031
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len... OMIM:619539
Joubert Syndrome 21
Respiratory failure, Single naris OMIM:615636
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure, Micrognathia, Depressed nasal ridge ORPHA:731
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:273
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:79138
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Rickets, Genu valgum, Enamel hypoplasia, Hypomature enamel OMIM:248250
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Nocardiosis
Respiratory failure, Osteomyelitis ORPHA:31204
Alkaptonuria
Nephrolithiasis, Dark urine, Corneal astigmatism, Elevated urinary homogentisic acid, Aminoacidur... ORPHA:56
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Chondrocalcinosis ORPHA:405
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Genu valgum OMIM:219800
Tuberous Sclerosis Complex
Respiratory failure ORPHA:805
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Arthritis, Joint swelling, Osteomyelitis OMIM:619381
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures ORPHA:3337
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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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