Gene Summary

Name:
NEL-like 1
Synonyms:
l7R6,  B230343H07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Dorso Ventral

30 Images

X-ray

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
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Wide nasal bridge, Depressed nasal bridge, Respiratory insufficiency, Sclerosis of... OMIM:313420
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol... 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
Cataract, Optic atrophy ORPHA:2253
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Pyknoachondrogenesis
Stillbirth OMIM:265880
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Neonatal death, Microcephaly, Sho... OMIM:611890
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
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
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Stargardt Disease 1
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa OMIM:248200
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Ullrich Congenital Muscular Dystrophy
Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity o... ORPHA:75840
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... OMIM:312700
Cataract 42
Cataract, Developmental cataract OMIM:115900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara... OMIM:600059
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Depressed nasal bridge, Hypoplasia of the odontoid process, Arthrog... OMIM:156530
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, 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
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Decreased cervical spine mobility, Multiple joint contractures, Microc... ORPHA:370968
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of th... OMIM:611040
Hyperekplexia 4
Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Respiratory failure OMIM:618011
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Wide anterior fontanel OMIM:618240
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Joint contracture, Respiratory insufficiency OMIM:616081
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Arthrogryposis multiplex congenita, Micrognathia, Mu... OMIM:618291
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Trichomegaly
Cataract OMIM:190330
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Peripapillary atrophy, Astigmatism, Retinal dots, Retinal d... OMIM:616188
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Scoliosis, Respiratory failure, Camptodactyly of finger 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
Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... 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
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir... ORPHA:891
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss... OMIM:135100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Respiratory failure, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:2590
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ra... OMIM:276950
Congenital Myopathy 14
Elbow flexion contracture, Death in infancy, Knee flexion contracture, Hip contracture, Respirato... OMIM:618414
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Morning Glory Disc Anomaly
Cataract, Retinal detachment, 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
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Congenital contracture, Respiratory failure, Death in infancy 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
Elbow contracture, Microcephaly, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Re... OMIM:606612
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy, Vacuolat... OMIM:204200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Nemaline Myopathy 8
Flexion contracture, Respiratory failure, Death in infancy OMIM:615348
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Alg1-Cdg
Limitation of joint mobility, Kyphosis, Progressive microcephaly, Scoliosis, Respiratory failure ORPHA:79327
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Anteverted nares, Tremor, Flexion contracture, Respiratory failure, Scoliosis, Inte... OMIM:616505
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Respiratory failure, Achilles tendon contracture OMIM:604801
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc... ORPHA:254875
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Retrognathia, Respiratory insufficiency, Micrognathia, Neonat... OMIM:618186
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... ORPHA:91495
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood ve... OMIM:204000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Joint hypermobility, H... ORPHA:2759
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Depressed nasal bridge, Retrognathia, Elbow flexion contracture, Anteverted nare... OMIM:617301
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Sandestig-Stefanova Syndrome
Wide nasal bridge, Retrognathia, Short neck, Primary microcephaly, Convex nasal ridge, Camptodact... OMIM:618804
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Depressed nasal bridge, Lumbar hyperlordosis, Neonatal death, Respiratory failure,... OMIM:616482
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptib... OMIM:146300
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia 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
Flared nostrils, Wide nasal bridge, Anteverted nares, Tremor, Microcephaly, Dystonia, Respiratory... OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Respiratory insufficiency, Microcephaly, Arthrogryposis multiplex congenita, Respir... OMIM:615330
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... 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
Osteopenia, Depressed nasal bridge, Joint dislocation, Retrognathia, Rickets, Abnormal joint morp... ORPHA:1901
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... 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
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Recurrent fractures, Reduced bone mineral density, Bicon... OMIM:166220
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Respiratory insufficiency, Neonatal death, Microcephaly, Respiratory failure OMIM:610127
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Immunodeficiency 95
Recurrent viral upper respiratory tract infections, Respiratory failure OMIM:619773
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Anemia, Renal c... OMIM:613824
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor OMIM:618637
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Tremor, Respiratory failure requiring assisted ventilation ORPHA:90117
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Camptodactyly of finger, Death in infancy, Microcephaly, Flexion contracture, Respi... ORPHA:1194
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecularization, O... ORPHA:93160
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Knee flexion contracture, Hyperlordosis, Achilles tendon contracture, Fle... OMIM:310200
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Respiratory failure, Death in infancy OMIM:616277
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Knee contracture, Hyperlordosis, Achilles tendon contracture, Scoliosis, Respi... OMIM:620249
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m... OMIM:616867
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract... ORPHA:414
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Knee flexion contracture, Hip contracture, Hypoplasia of the nasal bone, Sc... OMIM:118650
Intermediate Nemaline Myopathy
Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Multiple prenatal f... ORPHA:171433
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Cardiorespiratory arrest, Hyperlordosis, Respiratory failure, Wide anteri... ORPHA:26791
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Knee contracture, Death in childhood, Death in infancy, Thoracic s... OMIM:620278
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Camptodactyly, Fl... ORPHA:3168
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Arthrogryposis multiplex congenita, Fractures of the long bones, Seco... ORPHA:496641
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, L... OMIM:203500
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Polyarticular a... ORPHA:289176
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Respira... OMIM:619334
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Genu valgum, Sparse bone tr... OMIM:600785
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Elbow flexion contracture, Multiple joint contractures, Knee flexi... ORPHA:70
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Renal insufficiency, Astigmatism, Retinal degener... OMIM:615986
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure OMIM:619057
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge, Microcephaly, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Radio-Renal Syndrome
Depressed nasal bridge, Retrognathia, Abnormal form of the vertebral bodies, Micrognathia, Short ... ORPHA:3015
Autosomal Recessive Stickler Syndrome
Cataract, Retinal detachment, Astigmatism, Vitreoretinopathy ORPHA:250984
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Scoliosis, Respiratory failure ORPHA:98913
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Wide nasal bridge, Carious teeth, Rickets, Delayed eruption of t... OMIM:277440
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Pontocerebellar Hypoplasia Type 1
Progressive microcephaly, Arthrogryposis multiplex congenita, Respiratory failure ORPHA:2254
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Pierson Syndrome
Cataract, Nephrotic syndrome, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypopl... OMIM:609049
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Lens luxatio... OMIM:120330
Neu-Laxova Syndrome
Osteopenia, Depressed nasal ridge, Rickets, Retrognathia, Arthrogryposis multiplex congenita, Ost... ORPHA:2671
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Lethal Congenital Contracture Syndrome 2
Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Enlargement of the wrists, S... OMIM:264700
Congenital Multicore Myopathy With External Ophthalmoplegia
Flexion contracture, Scoliosis, Respiratory failure, Joint hypermobility ORPHA:98905
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cranial hyperostosis, Micrognathia, Microcephaly, Osteopetrosis, Decreased osteoclast... OMIM:259720
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia ORPHA:70472
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Peroxisome Biogenesis Disorder 4A (Zellweger)
Depressed nasal bridge, Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Tremor, Death in adolescence, Respiratory insufficie... OMIM:615512
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Hydroureter, Sideroblastic anemia, Hydronephrosi... OMIM:222300
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Leigh Syndrome, Nuclear
Dystonia, Respiratory failure, Respiratory insufficiency OMIM:256000
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Enamel hypomineralization, Genu valgum, Hypophosphatemic rickets, Osteoart... OMIM:307800
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
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
Cataract, Optic atrophy, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone... OMIM:268315
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Enlargement of the wrists, Sparse bone trabeculae, Thin... OMIM:600081
Fibrous Dysplasia Of Bone
Rickets, Abnormal mandible morphology, Osteomalacia, Cortical irregularity, Pathologic fracture, ... ORPHA:249
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Otopalatodigital Syndrome, Type Ii
Platyspondyly, Congenital hip dislocation, Spondylolysis, Depressed nasal bridge, Stillbirth, Elb... OMIM:304120
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean 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
Limb dystonia, Respiratory failure, Tremor ORPHA:363400
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Spinal rigidity OMIM:620326
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Congenital hip dislocation, Elbow flexion contracture, Micrognathia, K... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Respiratory failure, Microcephaly, Death in infancy OMIM:610678
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Abnormal form of the vertebral bodies, Retrognathia, Osteomalacia, Bulbous n... ORPHA:2636
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Enthesitis, Genu valgum, Abnor... ORPHA:89936
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Respiratory insufficiency, Hyperlordosis, Intercostal... ORPHA:258
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Enlargement of the wrists, Hypophosphatemic rickets, Sp... OMIM:241530
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Retrognathia, Anteverted nares, Joint hypermobility, Wrist flexion contra... ORPHA:254528
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Ciliary Dyskinesia, Primary, 5
Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Respirator... OMIM:608647
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Short neck, Wide nose, Hypoplasia of the maxilla, Flexion contracture, Respiratory ... ORPHA:96334
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Aneurysm-Osteoarthritis Syndrome
Dental malocclusion, Retrognathia, Camptodactyly of finger, Osteochondritis dissecans, Interverte... ORPHA:284984
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Ankle clonus OMIM:613954
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Respiratory failure OMIM:605711
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Osteomalacia, Enlargement of... ORPHA:289157
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Respiratory failure, Camptodactyly of finger OMIM:604320
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Proximal Myotonic Myopathy
Cataract ORPHA:606
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Nasal congestion, Elbow flexion contracture, Bulbous nose, Respira... OMIM:608836
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Hypophosphatem... OMIM:300554
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Death in childhood, Opisthotonus, Microcephaly, Primary microcephaly, Respiratory ... OMIM:619847
Immunodeficiency 54
Microcephaly, Respiratory failure, Respiratory insufficiency OMIM:609981
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Vitritis, Retinal vasculitis, Retinal detachment, Au... OMIM:107320
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia 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 failure, Death in infancy, Respiratory insufficiency OMIM:614299
Spinocerebellar Ataxia Type 1
Dystonia, Respiratory failure, Postural tremor ORPHA:98755
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Respiratory failure, Tremor, Exaggerated startle response OMIM:620327
Amyloidosis, Finnish Type
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... OMIM:105120
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Myhre Syndrome
Platyspondyly, Hypoplasia of the maxilla, Limitation of joint mobility, Respiratory insufficiency... OMIM:139210
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Neurogenic bladder, Macular degeneration OMIM:619780
Geleophysic Dysplasia 3
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Limited elbow movement... OMIM:617809
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Achilles tendon contracture OMIM:603689
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Microcephaly, Respiratory failure OMIM:250940
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Microcephaly, Micrognathia, Retrognathia ORPHA:2707
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Osteoporosis, Rickets, Death in childhood OMIM:560000
Scedosporiosis
Septic arthritis, Osteomyelitis, Respiratory failure, Arthralgia/arthritis ORPHA:449280
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Rickets, Osteomalacia ORPHA:89937
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Elbow flexion contracture, Secondary microcephaly, Anteverted nares, Micr... OMIM:300868
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil... OMIM:619656
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mccune-Albright Syndrome
Dental malocclusion, Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Nasal cong... ORPHA:562
Severe Congenital Nemaline Myopathy
Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Multiple prenatal f... ORPHA:171430
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Joint hypermobility, Craniosynostosis, Respiratory failure, Scoliosis, ... ORPHA:3342
Ziegler-Huang Syndrome
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Costello Syndrome
Depressed nasal bridge, Tracheomalacia, Respiratory insufficiency, Anteverted nares, Micrognathia... OMIM:218040
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory failure OMIM:263000
Atypical Werner Syndrome
Chondrocalcinosis, Limitation of joint mobility, Sclerosis of hand bone, Micrognathia, Interverte... ORPHA:79474
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Respiratory insufficiency, Joint hypermobility, Microcephaly, Thin bony cort... OMIM:613658
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume OMIM:616943
Alport Syndrome 2, Autosomal Recessive
Cataract, Nephritis, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Sparse bone tr... OMIM:300009
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Elbow dislocation, Retrognathia, Camptodactyly of finger, Micrognathia... ORPHA:2554
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Osteopenia, Dental malocclusion, Retrognathia, Osteochondritis dissecans, Int... OMIM:613795
Aniridia 3
Cataract, Aniridia OMIM:617142
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Snakebite Envenomation
Epistaxis, Respiratory failure ORPHA:449285
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Respiratory failure, Death in childhood, Torticollis OMIM:617186
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Midline defect of the nose, Aplasia/Hypoplasia of... ORPHA:1134
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias OMIM:250790
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, D... OMIM:607625
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Respiratory failure OMIM:617895
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Microphthalmia, Syndromic 5
Cataract, Microcornea, Micropenis, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Osteo... ORPHA:365
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Epistaxis OMIM:211600
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, As... OMIM:617052
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Opisthotonus, Primary microcephaly, Choreoathetosis ORPHA:445038
Occipital Horn Syndrome
Synostosis of joints, Platyspondyly, Osteopenia, Kyphosis, Rickets, Delayed cranial suture closur... ORPHA:198
Hypercholanemia, Familial 1
Rickets OMIM:607748
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Respiratory failure, 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, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral r... OMIM:243605
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231222
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Nasal congestion, Chronic rhinitis, Respiratory f... ORPHA:244
Thoracic Dysplasia-Hydrocephalus Syndrome
Depressed nasal ridge, Respiratory failure ORPHA:1861
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia ORPHA:157215
Nijmegen Breakage Syndrome
Depressed nasal bridge, Retrognathia, Prominent nose, Prominent nasal bridge, Microcephaly, Short... ORPHA:647
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Bifid ureter, Vesicoureteral r... 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
Opisthotonus, Respiratory failure, Ankle clonus ORPHA:206436
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Respiratory failure ORPHA:158687
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Kyphosis, Wrist swelling, Rickets, Camptodactyly of... OMIM:309000
Hartsfield Syndrome
Craniosynostosis, Hypoplasia of the frontal bone, Microcephaly, Wide nose OMIM:615465
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Hip dislocation, Carious teeth, Mandibular prognathia, Delayed eruption of teeth, ... ORPHA:534
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Mercury Poisoning
Dystonia, Respiratory failure, Tremor ORPHA:330021
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Underdeveloped nasa... ORPHA:306542
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Leigh Syndrome
Multiple joint contractures, Dystonia, Athetosis, Respiratory failure, Choreoathetosis ORPHA:506
Abetalipoproteinemia
Osteopenia, Respiratory failure, Kyphoscoliosis ORPHA:14
Listeriosis
Stiff neck, Osteomyelitis, Tremor, Septic arthritis, Respiratory failure, Back pain, Miscarriage ORPHA:533
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, HbH hemoglobin ORPHA:98791
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Respiratory failure OMIM:620296
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Death in infancy, Tremor, Dystonia, Respiratory fa... OMIM:610505
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:265120
Boutonneuse Fever
Respiratory failure ORPHA:83313
Atelis Syndrome 2
Vitreous hemorrhage, Developmental cataract, Thrombocytopenia, Anemia, Remnants of the hyaloid va... OMIM:620185
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Riddle Syndrome
Neonatal asphyxia, Recurrent sinusitis, Microcephaly, Arthritis, Respiratory failure ORPHA:420741
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Intention tremor, Microcephaly, Dystonia, Respiratory failure, Cho... ORPHA:209905
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Respiratory failure ORPHA:280210
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Respiratory failure ORPHA:88618
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness OMIM:220110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Lumbar hyperlordosis, Kypho... ORPHA:500150
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Infant Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70587
Poliomyelitis
Stiff neck, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Acute Lung Injury
Respiratory failure ORPHA:178320
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Sparse bone tr... ORPHA:1652
Adult Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70578
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone ORPHA:563612
3-Methylglutaconic Aciduria, Type Viii
Secondary microcephaly, Death in infancy, Tremor, Neonatal death, Respiratory arrest, Dystonia, R... OMIM:617248
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Digeorge Syndrome
Micrognathia, Intervertebral disk degeneration, Recurrent sinusitis, Pilonidal sinus, Microcephal... OMIM:188400
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Celiac Disease, Susceptibility To, 1
Osteoporosis, Enamel hypoplasia, Rickets OMIM:212750
Asbestos Intoxication
Respiratory failure ORPHA:2302
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Respiratory failure, Respiratory insufficiency OMIM:618329
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... 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
Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Bifid nose... OMIM:229400
Staphylococcal Necrotizing Pneumonia
Respiratory failure ORPHA:36238
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Retrognathia, Abnormal dental enamel morphology, Micrognathia, Microcephaly, M... ORPHA:2556
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Tubulointerstitial nephritis, Am... ORPHA:91500
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
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Ulbright-Hodes Syndrome
Depressed nasal bridge, Micrognathia, Humeroradial synostosis, Ovoid thoracolumbar vertebrae, Sho... ORPHA:3404
Fraser Syndrome 2
Short neck, Respiratory failure, Underdeveloped nasal alae, Wide nose OMIM:617666
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:610921
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Hydronephrosis, Anemia, Hypoplasia of penis 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
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia,... 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, Rhinitis, Micrognathia, Retrognathia ORPHA:125
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Mitochondrial Complex I Deficiency, Nuclear Type 1
Microcephaly, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:252010
Wilson Disease
Chondrocalcinosis, Hand tremor, Osteomalacia, Limb dystonia, Tremor, Joint hypermobility, Osteoar... OMIM:277900
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl... ORPHA:99867
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Abnormal T ce... ORPHA:330015
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Osteomalacia OMIM:600740
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Increased susceptibility to fractures, Respiratory insufficiency due to mu... ORPHA:18
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Pulmonary Alveolar Microlithiasis
Stippled calcification in carpal bones, Respiratory failure, Respiratory insufficiency ORPHA:60025
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Enamel hypoplasia, Respiratory failure ORPHA:79404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduced alpha/beta syn... OMIM:301040
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Respiratory failure, Back pain ORPHA:340
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory failure, Respiratory insufficiency OMIM:610913
Niemann-Pick Disease Type C
Respiratory insufficiency, Limb dystonia, Axial dystonia, Tremor, Dystonia, Respiratory failure, ... ORPHA:646
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal... 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
Depressed nasal ridge, Micrognathia, Respiratory failure ORPHA:731
Steinert Myotonic Dystrophy
Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Respiratory failur... ORPHA:273
Bickerstaff Brainstem Encephalitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:79138
Hypomagnesemia 3, Renal
Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia OMIM:248250
Microphthalmia, Syndromic 2
Iris coloboma, Microcornea, Retinal detachment, Developmental cataract, Remnants of the hyaloid v... OMIM:300166
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Nocardiosis
Osteomyelitis, Respiratory failure ORPHA:31204
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Methemoglobinemia... ORPHA:56
Familial Hypocalciuric Hypercalcemia
Chondrocalcinosis, Osteomalacia ORPHA:405
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Cystinosis, Nephropathic
Genu valgum, Rickets, Hypophosphatemic rickets OMIM:219800
Tuberous Sclerosis Complex
Respiratory failure ORPHA:805
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Joint swelling, Arthritis, Osteomalacia OMIM:619381
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337