Gene Summary

thrombospondin 2
TSP2,  Thbs-2,  Thrombospondin-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Thbs2em1(IMPC)Mbp HOM   Early adult 1.66×10-07
cataract Thbs2em1(IMPC)Mbp HOM   Early adult 1.52×10-07

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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.


XRay Images Whole Body Dorso Ventral

36 Images


XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Thbs2 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 Thbs2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cataract OMIM:190330
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Macular atrophy OMIM:618220
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephrine-induced ... OMIM:619267
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation OMIM:614292
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Iris coloboma OMIM:610202
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Gingival bleeding, Prol... OMIM:231200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Thrombocytosis, Acne, Cys... OMIM:604416
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Congestive h... ORPHA:75564
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
X-Linked Retinoschisis
Cataract ORPHA:792
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Cataract 47
Microcornea, Cataract OMIM:612018
Coats Disease
Cataract, Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris ORPHA:190
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Menorrhagia, Gi... OMIM:155100
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactosemia Ii
Cataract OMIM:230200
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Polycythemia Vera
Increased hemoglobin, Gastrointestinal hemorrhage, Leukocytosis, Cerebral hemorrhage, Increased h... OMIM:263300
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Hypertension, Osteopoikilosis ORPHA:1879
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment OMIM:193230
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Ectopic ossification, Increased bone mineral density OMIM:602475
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal pelvis bone ossification, Increased bone mineral den... ORPHA:166119
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Macrocytic anemia, Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality ... ORPHA:86841
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Oste... OMIM:136300
Low back pain, Increased bone mineral density OMIM:166450
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip... OMIM:600175
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Gastr... ORPHA:324636
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Prolonged blee... OMIM:600208
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Aplasia Cutis Congenita
Facial palsy, Prolonged bleeding time, Abnormality of bone mineral density ORPHA:1114
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Primary Myelofibrosis
Pancytopenia, Petechiae, Portal hypertension, Ecchymosis, Hepatosplenomegaly, Leukocytosis, Throm... ORPHA:824
Schnitzler Syndrome
Pruritus, Leukocytosis, Increased bone mineral density, Lymphoma, Splenomegaly, Anemia, Vasculiti... ORPHA:37748
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Anemia of inadequate production, Eczema, Macr... OMIM:617780
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Stickler Syndrome Type 2
Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Neuroblastoma, Impaired platelet aggregation, Lymphoma, Acute myeloid le... OMIM:601399
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Flexion contracture, Generalized amyotrophy, Joint hypermobility, Scoliosis, Myopathy, ... OMIM:618323
Gray Platelet Syndrome
Bruising susceptibility, Myelofibrosis, Abnormal number of alpha granules, Menorrhagia, Impaired ... OMIM:139090
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, F... ORPHA:566943
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Thrombocytopenia, Neutrophil inclusion bodies, Prolo... OMIM:605249
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Menorrh... OMIM:277480
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:608404
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Facial palsy, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Craniofacial hyperostosis, Facial palsy, Abnormal cortical bone morphology, Increased bone minera... ORPHA:3152
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Exudative Vitreoretinopathy 6
Cataract, Retinal detachment OMIM:616468
Proximal Myotonic Myopathy
Cataract ORPHA:606
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Arthritis, Thickened cortex of bones, Joint stiffness ORPHA:564003
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Myelofibrosis, Gastrointestinal hemorrhage, Ecchymosis, Absen... OMIM:187900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Foot dorsiflexor weakness, Kyphosis OMIM:617087
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Short neck, Kyphosis, Flexion contracture, Increased variability in muscl... OMIM:300718
Dentin Dysplasia
Exostoses, Increased bone mineral density ORPHA:1653
Thrombocythemia 3
Thrombocytosis, Ischemic stroke OMIM:614521
Essential Thrombocythemia
Myelofibrosis, Myocardial infarction, Splenomegaly, Transient ischemic attack, Myelodysplasia, Ac... ORPHA:3318
Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet granules, Neutropenia,... ORPHA:238459
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Craniosynostosis, Increased bone mineral density ORPHA:178377
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Decreased cervical spine mobility, Premature osteoarthritis, Thoracic kyphosis, Increa... ORPHA:93284
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration OMIM:611131
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Scoliosis, Kyphosis, Skeletal muscle atrophy OMIM:611225
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Myositis, Joint stiffness, Leukopenia, Skeletal muscle atrophy, Thrombocytosi... OMIM:615934
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Reticulocyt... OMIM:314050
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Blue Rubber Bleb Nevus
Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleeding, Prolonged bl... ORPHA:1059
Poems Syndrome
Sclerosis of foot bone, Thrombocytosis, Sclerosis of hand bone, Sclerosis of skull base, Pulmonar... ORPHA:2905
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Fechtner syndrome
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Thrombocytopen... OMIM:153640
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Retinal detachment, Iris coloboma, Macular atrophy OMIM:212550
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Skeletal muscle atrophy, Osteoporosis, Platyspondyly, Joint hyper... OMIM:614856
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Myh9-Related Disease
Congenital thrombocytopenia, Bruising susceptibility, Menorrhagia, Giant platelets, Myocardial in... ORPHA:182050
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... OMIM:265800
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Sandwich appearance of vertebral bodies, Increased susce... ORPHA:210110
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract OMIM:613731
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy, Osteoporosis, Scoliosis, Myopathy OMIM:618234
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Metatropic Dysplasia
Joint stiffness, Kyphosis, Abnormal enchondral ossification, Abnormal form of the vertebral bodie... ORPHA:2635
Bethlem Myopathy 2
Flexion contracture, Kyphosis, Increased variability in muscle fiber diameter, Distal joint laxit... OMIM:616471
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failur... ORPHA:90308
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Increased bone mineral density OMIM:265880
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Salmonella... OMIM:209950
Joint stiffness, Increased bone mineral density, Skeletal muscle atrophy, Ectopic ossification in... ORPHA:2485
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Wiskott-Aldrich Syndrome
Microcytic anemia, Lymphoma, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the... ORPHA:906
Morm Syndrome
Retinal atrophy, Cataract ORPHA:75858
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Kyphosis, Osteopenia, Thrombocytosis, Cardiomyopathy, Prolonged prothrombin ... OMIM:212065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal ... ORPHA:1802
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis, Arrhythmia OMIM:618453
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hemorrhage, Impaired ... OMIM:193400
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Osteopenia, Intervertebral space narrowing, Back pain, Scoliosis, Squared-o... OMIM:271530
Proteus Syndrome
Multiple lipomas, Lymphangioma, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin ... OMIM:176920
Thrombocythemia 2
Thrombocytosis OMIM:601977
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Thrombocytosis, Coombs-positive hemolytic anemia, Hypertension, Hemo... OMIM:614034
Diastrophic Dysplasia
Visceral angiomatosis, Joint stiffness, Increased bone mineral density, Kyphosis, Abnormal form o... ORPHA:628
Platelet Disorder, Undefined
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time, Hematolo... OMIM:173420
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Cataract 11, Multiple Types
Cataract OMIM:610623
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal detachment, Iris coloboma ORPHA:1473
Familial Thrombocytosis
Pruritus, Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Pulmonary arterial hypertension, ... ORPHA:71493
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Sp... ORPHA:3226
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Joint stiffness, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Idiopathic Hypereosinophilic Syndrome
Anemia, Inflammatory abnormality of the skin, Thrombocytopenia, Intracranial hemorrhage, Congesti... ORPHA:3260
Mixed Connective Tissue Disease
Myositis, Joint stiffness, Gastrointestinal hemorrhage, Leukopenia, Purpura, Myocarditis, Splenom... ORPHA:809
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Abnormal form of the vertebral bodies, Joint stiffness, Ovoid vertebral bodies, Vertebr... ORPHA:40
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Sandwich appearance of vertebral ... OMIM:259700
Gaucher Disease Type 1
Pancytopenia, Bruising susceptibility, Osteopenia, Increased bone mineral density, Kyphosis, Vert... ORPHA:77259
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis, Foot acroosteolysis, Osteolysis, Reduced bone mineral den... ORPHA:970
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Thoracolumbar scoliosis, Sclerosis of skull base, Platyspondyly, Knee flexion contractu... OMIM:313420
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Sclerotic vertebral endplates, ... OMIM:611490
Winchester Syndrome
Carpal osteolysis, Generalized osteoporosis, Osteolysis involving tarsal bones, Kyphosis OMIM:277950
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Multiple joint contractures, ... ORPHA:536516
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Hip osteoarthritis, Recurrent fractures, Abnormality of the vertebra... OMIM:166600
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Celiac Disease, Susceptibility To, 1
Lymphoma, Thrombocytosis, Osteoporosis, Eczema, Iron deficiency anemia, Macrocytic anemia, Prolon... OMIM:212750
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Congenital hypoplastic anemia, Leukocytosis,... ORPHA:77297
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Flexion contracture, Skeletal muscle atrophy, Arthrogryposis multiplex cong... OMIM:618393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Prolonged bleeding following procedure, Oral cavity bleeding, ... ORPHA:325
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cataract, Optic disc pallor, Macular atrophy OMIM:614500
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Thickened cortex of long bones, Generalized osteosclerosis, ... OMIM:607634
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Congenital Muscular Dystrophy, Ullrich Type
Increased laxity of fingers, Flexion contracture, Short neck, Kyphosis, Hyperextensibility at wri... ORPHA:75840
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Recurrent skin infections, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Ost... OMIM:612840
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Prolonged bleeding time, Abnormal bleedin... OMIM:614074
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Dilated cardiomyopathy, Portal hypertension, Erythema nodosum, Leukopenia, Hepatosp... OMIM:615688
Ck Syndrome
Kyphosis, Hyperlordosis, Joint hypermobility, Scoliosis, Abnormal cortical bone morphology OMIM:300831
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Skeletal muscle atrophy, Scoliosis, Arthrogryposis multiplex conge... OMIM:618291
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte tran... OMIM:243150
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Bruck Syndrome 1
Kyphosis, Joint laxity, Vertebral wedging, Increased susceptibility to fractures, Osteoporosis, A... OMIM:259450
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Thoracic kyphosis, Short neck, Increased bone mineral density, Ovoid vertebral bodies, Abnormal b... ORPHA:163649
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Optic disc pallor, Pigmentary retinopathy OMIM:204100
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Osteoporosis, Osteomalacia, Scoliosis, Joint hyperflexibility, Prolo... ORPHA:1901
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Ecchymosis, Abnormal platelet... OMIM:614075
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Bruising susceptibility, Histiocytoma, Osteopenia, Skeletal muscle a... OMIM:112250
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Congenital muscular dystrophy, Shoulder girdle muscle atro... OMIM:606612
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Macs Syndrome
Bruising susceptibility, Osteoporosis, Joint hypermobility, Scoliosis, Prolonged bleeding time OMIM:613075
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly, Optic nerve aplasia, Op... OMIM:120200
Pellagra-Like Syndrome
Cataract OMIM:260650
Gorham-Stout Disease
Cortical irregularity, Osteopenia, Abnormality of the cervical spine, Lymphangioma, Hemangiomatos... ORPHA:73
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Premature osteoarthritis, Osteopenia, Kyphosis, Joint laxity, Increased ... OMIM:130060
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Immunodeficiency 92
Leukocytosis, Thrombocytosis, Osteomyelitis, B lymphocytopenia, Decreased proportion of class-swi... OMIM:619652
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Myofibrillar Myopathy 10
Kyphosis, EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Incr... OMIM:619040
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Dysostosis, Stanescu Type
Kyphosis, Short neck, Increased bone mineral density, Hyperlordosis, Macroglossia, Scoliosis, Mas... ORPHA:1798
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Exostoses of the ... ORPHA:85188
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Macroglossia ORPHA:1423
Werner Syndrome
Osteoporosis, Cutaneous melanoma, Meningioma, Telangiectasia of the skin, Neoplasm of the lung, H... ORPHA:902
Blackfan-Diamond Anemia
Short neck, Leukopenia, Thrombocytosis, Abnormality of the thenar eminence, Osteosarcoma, Adenoca... ORPHA:124
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Leukopenia, Leukocytosis, Thrombocytosis, Hypotension, An... ORPHA:20
Diamond-Blackfan Anemia 1
Short neck, Congenital hypoplastic anemia, Congestive heart failure, Colon cancer, Thrombocytosis... OMIM:105650
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Facial palsy, Thrombocytopenia OMIM:615085
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Hyperlordosis, Facial hyperostosis, Scoliosis, Osteopetrosis, Spi... ORPHA:2780
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Weakness of facial ... OMIM:618484
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Short neck, Kyphosis, Flexion contracture, Increased endomysial connective tis... ORPHA:178148
Increased bone mineral density, Hypoplastic vertebral bodies, Recurrent fractures, Craniofacial h... ORPHA:1782
Axial Osteomalacia
Myopathy, Increased bone mineral density, Osteomalacia OMIM:109130
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc pallor OMIM:251270
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Finger joint hypermobility, Knee joint hypermobility, Bruising susce... ORPHA:49042
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Pulmonary embolism, Budd-Chiari syndrome OMIM:226300
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Skeletal muscle atrophy, Scoliosis, Arthrogryposis multiplex congenita, Fac... OMIM:611890
Metatropic Dysplasia
Flexion contracture, Kyphosis, Abnormal enchondral ossification, Caudal appendage, Hypoplasia of ... OMIM:156530
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Leukocytosis, Arrhythmia, Thrombocytosis, Pulmonary embolism, Hypotension, Hypert... ORPHA:94093
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Kyphosis, Congenital muscular dystrophy ORPHA:1875
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Generalized amyotrophy, Hyperlordosis, EMG: myopathic abnormalitie... OMIM:255200
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Congenital Varicella Syndrome
Cataract ORPHA:291
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Osteoporosis OMIM:617190
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Joint contracture of the 5th finger, Eczema, Scoliosis, ... ORPHA:352490
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Anemia, Scoliosis, Myopathy ORPHA:2598
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Osteoporosis, Scoliosis, Camptodactyly of finger, Ac... ORPHA:48431
Wiskott-Aldrich Syndrome
Eosinophilia, Petechiae, Decreased proportion of CD8-positive T cells, Purpura, Gingival bleeding... OMIM:301000
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Kyphosis, Increased bone mineral density, Coronal craniosynostosis, Hepatosplenomegaly, Joint lax... ORPHA:763
Lethal Congenital Contracture Syndrome Type 1
Short neck, Recurrent fractures, Abnormal form of the vertebral bodies, Skeletal muscle atrophy, ... ORPHA:1486
Storage Pool Platelet Disease
Myelodysplasia, Abnormal bleeding, Acute leukemia, Prolonged bleeding time, Decreased mean platel... OMIM:185050
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract OMIM:616562
Gastrointestinal hemorrhage, Arthritis, Limitation of joint mobility, Osteoporosis, Acne, Splenom... ORPHA:2796
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Kyphosis, Abn... OMIM:607155
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Scoliosis, Distal amyotrophy, Limitation of joint mobility ORPHA:3454
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Pruritus, Craniofacial osteosclerosis, Abnormal vertebral morphology, Acne, Osteomyelitis, Scolio... ORPHA:324964
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Gastrointestinal hemorrhage, Oral cav... ORPHA:328
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Scoliosis, Kyphosis, Distal upper limb amyotrophy ORPHA:101075
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones OMIM:618392
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Patent ductus arteriosus OMIM:618658
Hepatocellular Carcinoma
Portal hypertension, Thrombocytosis, Hypotension, Neoplasm, Anemia, Hepatic necrosis, Budd-Chiari... ORPHA:88673
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Schwartz-Jampel Syndrome
Abnormally straight spine, Osteoporosis, Scoliosis, Arthrogryposis multiplex congenita, Short nec... ORPHA:800
Wiskott-Aldrich Syndrome, Autosomal Dominant
Gingival bleeding, Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytop... OMIM:600903
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Sandhoff Disease
Splenomegaly, Kyphosis, Congestive heart failure ORPHA:796
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of fingers, Flexion contracture, Kyphosis, Congenital muscular dystrophy, Hypere... OMIM:254090
Sialidosis Type 2
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Splenomegaly, Osteoporosis ORPHA:87876
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypotension, Hypertension ORPHA:134
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Short neck, Increased bone mineral density, Increased bone density with cys... ORPHA:94089
Autoimmune Hypoparathyroidism
Increased bone mineral density, Abnormal left ventricular function, Ventricular arrhythmia, Prolo... ORPHA:36913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Kyphosis, Proximal muscle weakness in lower limbs, Incre... OMIM:618138
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Scoliosis, Calvarial hyperost... ORPHA:1310
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Clavicular sclerosis, Osteopenia, Hypoplastic vertebral bodies, Sclerosis of hand bone, Increased... OMIM:224300
Weismann-Netter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Abnormal cortical bone morpho... ORPHA:3344
Uruguay Faciocardiomusculoskeletal Syndrome
Marked muscular hypertrophy, Kyphosis, Scoliosis, Cardiomyopathy, Camptodactyly of toe, Mitral re... OMIM:300280
Leukopenia, Hip osteoarthritis, Leukocytosis, Knee osteoarthritis, Thrombocytosis, Myocarditis, S... ORPHA:1304
Craniosynostosis, Osteopenia, Increased bone mineral density, Multiple joint contractures, Thorac... ORPHA:33364
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Gingival bleeding, Cardiomyopathy, Prolonged b... OMIM:203300
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Skeletal muscle atrophy, Sclerosis of skull... OMIM:131300
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density, Vertebral arch anomaly ORPHA:85184
Bruck Syndrome
Kyphosis, Recurrent fractures, Joint stiffness, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Syndromic Diarrhea
Hepatoblastoma, Aortic regurgitation, Patent ductus arteriosus, Thrombocytosis, Splenomegaly, Hyp... ORPHA:84064
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Cataract 24
Anterior polar cataract OMIM:601202
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Kyphosis, Arrhythmia, Generalized amyotrophy, Proximal amyotrophy, Spinal... OMIM:615084
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Osteopenia, Kyphosis, Scoliosis, Torticollis, Camptodactyly, Camptodactyly... OMIM:609128
Crisponi Syndrome
Flexion contracture, Kyphosis, Sudden cardiac death, Scoliosis, Camptodactyly of finger, Limitati... ORPHA:1545
Typical Nemaline Myopathy
Nemaline bodies, Short neck, Kyphosis, Flexion contracture, Foot dorsiflexor weakness, Limb-girdl... ORPHA:171436
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy, Kyphosis OMIM:618237
Joint stiffness, Arthritis, Osteoarthritis, Eczema, Abnormal cortical bone morphology ORPHA:1525
Frank-Ter Haar Syndrome
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Acne, Scoliosis, Osteolysis, Camptodactyl... ORPHA:137834
Gm1-Gangliosidosis, Type Iii
Kyphosis, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis OMIM:230650
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Kyphosis, Osteoporosis, Ankylosis OMIM:239000
Acquired Purpura Fulminans
Macular purpura, Skin rash, Thrombocytopenia, Neoplasm, Intracranial hemorrhage, Prolonged prothr... ORPHA:49566
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Limited elbow flexion, Thin bony... ORPHA:79106
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:101078
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Kyphosis, Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, M... ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma ORPHA:363741
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Irregular vertebral endplates OMIM:234250
Acquired Von Willebrand Syndrome
Hypochromic anemia, Persistent bleeding after trauma, Bruising susceptibility, Aortic valve steno... ORPHA:99147
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Scoliosis, Kyphosis, Cervical spinal canal stenosis OMIM:301900
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Premature osteoarthritis, Thoracic ... ORPHA:93314
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal fractures, Pla... OMIM:259440
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Craniosynostosis, Kyphosis, Joint hypermobility OMIM:618050
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... ORPHA:355
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Hyperlordo... OMIM:181405
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Kyphosis, Giant platelets, Eczema, Abnormality of neutrophils, Lower l... OMIM:169400
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Intramuscular hematoma, Prolonged prothrombin t... OMIM:227600
Short neck, Kyphosis, Craniofacial hyperostosis, Splenomegaly, Macroglossia, Scoliosis, Synostosi... ORPHA:61
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita OMIM:615834
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Trichohepatoenteric Syndrome 1
Thrombocytosis, Aortic regurgitation, Pulmonic stenosis, Increased mean platelet volume OMIM:222470
Cogan Syndrome
Leukocytosis, Aortic regurgitation, Thrombocytosis, Anemia, Vasculitis, Large vessel vasculitis ORPHA:1467
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Abnormal cortical bone morphology, Pathologic fracture ORPHA:166277
Microcephalic Primordial Dwarfism, Montreal Type
Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:2617
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Leukocyte Adhesion Deficiency
Recurrent skin infections, Leukocytosis, Impaired platelet aggregation, Coronal craniosynostosis,... ORPHA:2968
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Acth-Independent Macronodular Adrenal Hyperplasia
Bruising susceptibility, Osteopenia, Kyphosis, Skeletal muscle atrophy, Osteoporosis, Neoplasm, H... OMIM:219080
Mucolipidosis Iii Gamma
Short neck, Aortic regurgitation, Joint stiffness, Kyphosis, Hyperlordosis, Scoliosis, Aortic val... OMIM:252605
Autosomal Recessive Spastic Paraplegia Type 53
Joint hyperflexibility, Kyphosis, Upper limb hypertonia ORPHA:319199
Atypical Werner Syndrome
Sclerosis of hand bone, Neoplasm of the breast, Osteoporosis, Meningioma, Telangiectasia of the s... ORPHA:79474
Combined Deficiency Of Factor V And Factor Viii
Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, Prolonged b... ORPHA:35909
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Urban-Rogers-Meyer Syndrome
Short neck, Recurrent fractures, Kyphosis, Osteoporosis, Flexion contracture of toe, Camptodactyl... ORPHA:3409
Congenital Factor Vii Deficiency
Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, Post-partum... ORPHA:327
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Osteopetrosis, Splenomegaly, Increased bone mineral density, Patent ductus arteriosus ORPHA:35107
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Kyphosis, Osteoporosis, Scoliosis, Telangiectasia OMIM:615381
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Scoliosis, Osteopoikilosis, Skeletal muscle atrophy ORPHA:94063
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Joint stiffness ORPHA:1548
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Pseudohypoparathyroidism Type 1A
Short neck, Increased bone mineral density, Abnormal platelet function, Prolonged QT interval, Hy... ORPHA:79443
Flynn-Aird Syndrome
Kyphosis, Joint stiffness, Skeletal muscle atrophy, Scoliosis, Bone cyst ORPHA:2047
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Kyphosis, Increased bone mineral density, Limitation of joint mobility, Fac... ORPHA:2658
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Severe generalized osteoporosis,... OMIM:259420
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Facial palsy, Osteopetrosis ORPHA:1522
Patent ductus arteriosus, Gingival fibromatosis, Generalized osteosclerosis, Arthrogryposis multi... OMIM:602398
Paget Disease Of Bone 3
Fractures of the long bones, Osteosarcoma, Patchy osteosclerosis, Osteolysis OMIM:167250
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Marinesco-Sjogren Syndrome
Kyphosis, Flexion contracture, Skeletal muscle atrophy, Scoliosis, Myopathy, Rimmed vacuoles, Cen... OMIM:248800
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Left ventricular hypertrophy, Splenic... ORPHA:335
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Wieacker-Wolff Syndrome
Short neck, Kyphosis, Hyperlordosis, Congenital foot contractures, Scoliosis, Arthrogryposis mult... OMIM:314580
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Premature osteoarthritis, Kyphosis, Joint laxity, Generalized joint laxity, Laryngotracheomalacia... ORPHA:93360
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Calvarial hyperostosis, Horizontal sacrum OMIM:112350
Spastic Paraplegia 46, Autosomal Recessive
Lower limb muscle weakness, Scoliosis, Kyphosis, Limb muscle weakness OMIM:614409
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Kyphosis, Short neck, Arrhythmia, Acne, Scoliosis ORPHA:3191
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Short neck, Kyphosis, Scoliosis, Hip contractur... OMIM:301041
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Increased susceptibility to fractures, Splenomegaly... ORPHA:77261
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Scoliosis, Tarsal ... ORPHA:90652
Hurler-Scheie Syndrome
Joint stiffness, Aortic regurgitation, Kyphosis, Contracture of the distal interphalangeal joint ... OMIM:607015
Mcdonough Syndrome
Scoliosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:2471
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Fibrous Dysplasia Of Bone
Cortical irregularity, Fibrous dysplasia of the bones, Abnormality of the cervical spine, Abnorma... ORPHA:249
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of calvaria, Absent ossification of thoracic vertebral ... OMIM:601376
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Thoracic kyphosis, Platyspondyly OMIM:619638
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck, Acne, Pulmonic stenosis, Limitation ... ORPHA:3098
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis OMIM:618443
Spastic Paraplegia 53, Autosomal Recessive
Joint hyperflexibility, Kyphosis, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Osteopetrosis, Platyspondyly OMIM:618476
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly OMIM:615547
Thanatophoric Dysplasia
Joint stiffness, Kyphosis, Patent ductus arteriosus, Platyspondyly, Abnormal sacroiliac joint mor... ORPHA:2655
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Optic nerve hypoplasia, Aniridia... OMIM:106210
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Hepatoportal Sclerosis
Pruritus, Portal hypertension, Gastrointestinal hemorrhage, Hypersplenism, Leukopenia, Splenomega... ORPHA:64743
Gm1 Gangliosidosis
Joint stiffness, Abnormal form of the vertebral bodies, Patent ductus arteriosus, Congestive hear... ORPHA:354
Mucopolysaccharidosis, Type Vii
Flexion contracture, Joint stiffness, Short neck, Kyphosis, Anterior beaking of lumbar vertebrae,... OMIM:253220
Raine Syndrome
Short neck, Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Joint stiffness ORPHA:816
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Spondyloepiphyseal Dysplasia Congenita
Short neck, Kyphosis, Cervical instability, Osteoporosis, Laryngotracheomalacia, Platyspondyly, B... ORPHA:94068
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Kyphosis, Vertebral compression fracture, Ecchymosis, Skeletal muscle at... OMIM:219090
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Cata... OMIM:609049
Widow'S Peak Syndrome
Arthralgia/arthritis, Kyphosis, Hip osteoarthritis OMIM:314570
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck, Macroglossia OMIM:616455
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Erdheim-Chester Disease
Increased bone mineral density, Congestive heart failure, Osteomyelitis, Anemia, Osteolysis, Skin... ORPHA:35687
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Kyphosis, Joint laxity, Cervical subluxation, Hypoplasia of the odontoid ... OMIM:253010
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture, Recurrent fractures, Sacral dimple, Thickened cortex of long bon... ORPHA:3206
Spondyloepiphyseal Dysplasia Congenita
Limitation of knee mobility, Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphos... OMIM:183900
Jaberi-Elahi Syndrome
Scoliosis, Kyphosis, Joint stiffness, Joint hypermobility OMIM:617988
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Vertebral compression fracture, Joint laxity, Join... OMIM:617952
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Hypotension, Thrombocytopenia, Anemia, Tachycardia, Prolo... ORPHA:91547
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Short neck, Advanced tarsal ossification, Kyphosis, Joint ... OMIM:251450
Oculoauricular Syndrome
Developmental cataract, Retinal coloboma, Sclerocornea, Microcornea, Cataract, Posterior embryoto... OMIM:612109
Kyphosis, Limited hip extension, Joint laxity, Hypoplasia of the odontoid process, Beaking of ver... OMIM:177170
Melnick-Needles Syndrome
Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Scoliosis, Anisospond... ORPHA:2484
Angioosteohypotrophic Syndrome
Thin bony cortex, Telangiectasia of the skin, Abnormal trabecular bone morphology ORPHA:75508
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis, Osteoporosis, Recurrent fractures ORPHA:85193
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hyperflexibility, Kyphosis, Aortic regurgitation, Scoliosis ORPHA:2181