| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Diabetes mellitus |
OMIM:602475 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... |
OMIM:239100 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Optic atrophy, Increased bone mineral density |
ORPHA:178377 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Sclerosteosis |
|
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone miner... |
ORPHA:3152 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Gout, Type II diabetes mellitus, Osteoporosis, Impaired glucose tolerance |
OMIM:610947 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dystonia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Papill... |
OMIM:122860 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... |
ORPHA:210110 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperactivity, Motor stere... |
OMIM:619470 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Papilledema, Osteopetrosis, Increased bone mineral density |
OMIM:620366 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Hypoglycemia, Retinal degeneration, Aggressive behavior, Restlessness, Choreoathet... |
OMIM:300438 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteo... |
OMIM:259700 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Coloboma, Osteopetrosis |
OMIM:617306 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Dysosteosclerosis |
|
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mi... |
ORPHA:1782 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Retinal detachment, Delayed patellar ossification, Abnormal bone ... |
ORPHA:163649 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Os... |
ORPHA:53 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Attention deficit hyperactivity disorder, Hypoglycemia, Hyperinsulinemia |
OMIM:620211 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decr... |
OMIM:259710 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis,... |
ORPHA:94089 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Retinal degeneration, Ankylosis, Osteoporosis, Recurr... |
OMIM:239000 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Werner Syndrome |
|
Insulin resistance, Joint stiffness, Type II diabetes mellitus, Abnormality of retinal pigmentati... |
ORPHA:902 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Osteopetrosis |
OMIM:615085 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Diabetes mellitus, Tremor |
ORPHA:94063 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Laryngeal dystonia |
ORPHA:36913 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Inappropriate laughter,... |
OMIM:618476 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Exaggerated startle response |
ORPHA:3198 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Dysosteosclerosis |
|
Osteopenia, Optic atrophy, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil... |
OMIM:224300 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Papilledema, Diabetes me... |
ORPHA:2905 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Optic nerve compression, Cortical thickening of long bone diaphyses, Inc... |
OMIM:131300 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... |
OMIM:617600 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... |
ORPHA:763 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Flexion contracture, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Cranial hyperostosis, Optic disc pallor, Osteopetrosis, Decreased osteoclast count... |
OMIM:259720 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Joint hypermobility, ... |
ORPHA:449291 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Glycosuria, Insulin-resistant diabetes mellitus, Sclerosis of hand ... |
ORPHA:79474 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Trichothiodystrophy |
|
Osteopenia, Macular degeneration, Increased bone mineral density, Multiple joint contractures, Re... |
ORPHA:33364 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Jo... |
OMIM:617301 |
| Stiff-Person Syndrome |
|
Opisthotonus, Diabetes mellitus, Exaggerated startle response |
OMIM:184850 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Retinal calcification, Papilledema, Increased bone mineral density |
OMIM:127000 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Optic nerve compression, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Agitation, Hyperactivity, Exaggerated startle response, Dystonia, Im... |
OMIM:620423 |
| Schwartz-Jampel Syndrome |
|
Blepharospasm, Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion cont... |
ORPHA:800 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag... |
OMIM:608643 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Laryngeal dystonia, Polyphagia, Increased bone mineral density, Reduced bon... |
ORPHA:79443 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Glycosuria, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Polydipsia, Osteolysis, Osteomyelitis |
ORPHA:35687 |
| Pseudohypoparathyroidism Type 1C |
|
Polyphagia, Ectopic ossification, Increased bone mineral density, Laryngeal dystonia |
ORPHA:79444 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Optic neuropathy, Optic atrophy |
OMIM:259900 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Joint contracture, Exaggerated startle response |
OMIM:616881 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Gaucher Disease |
|
Osteopenia, Arthrogryposis multiplex congenita, Osteolysis, Pathologic fracture, Osteomyelitis, J... |
ORPHA:355 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... |
ORPHA:90652 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
| Raine Syndrome |
|
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation |
OMIM:259775 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... |
ORPHA:89936 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Femur fracture, Oste... |
OMIM:612301 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Joint contracture, Exaggerated startle response |
OMIM:617864 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis |
ORPHA:77261 |
| Atelis Syndrome 2 |
|
Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular system, Hyperinsulinemia |
OMIM:620185 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Tay-Sachs Disease |
|
Optic atrophy, Laryngeal dystonia, Limited elbow extension, Tremor, Limited knee extension, Exagg... |
ORPHA:845 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Optic atrophy, Hypoglycemia, Exaggerated startle response |
OMIM:620451 |
| Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Contractures of the large joints, Exaggerated startle response, Dystonia, Impaired... |
ORPHA:521426 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Tremor, Exaggerated startle response |
OMIM:620327 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Primary Hyperoxaluria |
|
Optic disc pallor, Generalized osteosclerosis, Optic atrophy, Recurrent fractures |
ORPHA:416 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Flexion contr... |
OMIM:253800 |
| Sclerosteosis 1 |
|
Optic atrophy, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Papilledema, C... |
OMIM:269500 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Joint stiffness, Type II diabetes mellitus, Overfriendliness, J... |
ORPHA:904 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Tremor, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, R... |
ORPHA:667 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Dysphagia, Contractures of the large joints, Exaggerated startle response |
OMIM:617527 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility |
ORPHA:2714 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia, Tremor, Exaggerated startle response |
OMIM:615574 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Retinal atrophy, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Attention deficit hyperactivity disorder, Retinal detachm... |
ORPHA:649 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Opisthotonus, Thickened cortex of long bones, Sclerosis of skull base, Increased density of long ... |
OMIM:269150 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint hypermobility, Stereotypical hand wringing, Optic disc pallor, Exaggerated star... |
ORPHA:438213 |
| Pierson Syndrome |
|
Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Radioulnar synostosis, Contract... |
OMIM:300166 |
| Full Nf2-Related Schwannomatosis |
|
Dysphagia, Remnants of the hyaloid vascular system |
ORPHA:637 |
| Neuroocular Syndrome 1 |
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Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular system, Lens coloboma,... |
OMIM:619539 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Joint hypermobility, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle res... |
OMIM:619522 |
