Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Axonal loss, Inappropriate behavior, Gliosis, Gait ... |
OMIM:221770 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Huntington Disease |
|
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Abnormality of ... |
ORPHA:399 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Progressive leukoencephalopathy, Ataxia, Babinski sign, Hand tremor, Leukoenc... |
OMIM:615889 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Sclerosteosis |
|
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, 2-3 finger syndacty... |
ORPHA:3152 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Babinski sign, Mental deterioration, Gait ataxia, Dysphagia, Loss of ambula... |
OMIM:249900 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Delayed CNS myelination, Ataxia, Prominent nasal bridge, Reduced cerebral white matter volume, Pr... |
OMIM:620317 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... |
OMIM:614895 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, Hypertonia, ... |
OMIM:245200 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Megalenc... |
OMIM:613925 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... |
OMIM:604360 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Cranio... |
OMIM:259700 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... |
OMIM:620378 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... |
OMIM:615185 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Gai... |
OMIM:601098 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... |
OMIM:606483 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... |
OMIM:615362 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares, Clumsiness, Cognitive impairment, Global... |
ORPHA:324422 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... |
ORPHA:101097 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Dysplastic corpus callosum, Inability to walk, Tongue f... |
OMIM:618276 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Impaired oropharynge... |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ... |
OMIM:618279 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Motor tics, Rigidity, Mental deterioration, Spastic tetraplegia, Depression, Bradykinesia, Tip-to... |
OMIM:615643 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... |
OMIM:612319 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Difficulty walking, Abnormal mye... |
ORPHA:401820 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen... |
ORPHA:2932 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Delayed epiphyseal ossification, R... |
OMIM:600785 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Recurrent fractures |
OMIM:619884 |
Lissencephaly 4 |
|
Babinski sign, Wide nasal bridge, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencepha... |
OMIM:614019 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... |
OMIM:614436 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Cortical dysplasia, Oromotor apraxia, Dysgenesi... |
ORPHA:300573 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro... |
OMIM:604168 |
Osteoglosphonic Dysplasia |
|
Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, C... |
ORPHA:2645 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Sev... |
ORPHA:488635 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... |
ORPHA:206594 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Impulsivity, Cerebral atrophy, Ir... |
OMIM:614116 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum... |
OMIM:169500 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
Monosomy 5P |
|
Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Abnormality of bone m... |
ORPHA:281 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... |
OMIM:265900 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis... |
OMIM:609260 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Delayed... |
ORPHA:599373 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hand tremor, Limb ataxia, Degeneration of a... |
OMIM:607596 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... |
OMIM:145900 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Null Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, ... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... |
OMIM:607731 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Mental deterioratio... |
OMIM:221820 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... |
ORPHA:500166 |
Adult Krabbe Disease |
|
Progressive neurologic deterioration, Hoffmann sign, Ataxia, Abnormal pyramidal tract morphology,... |
ORPHA:206448 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... |
OMIM:620366 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Agenesis of corpus ... |
ORPHA:401830 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... |
ORPHA:101111 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de... |
OMIM:259720 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi... |
OMIM:226990 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc... |
ORPHA:73256 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... |
OMIM:603218 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic... |
ORPHA:83468 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... |
OMIM:607250 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal sensory impairment, Steppage gait, Dysphagia, Peripheral demyelination, Axonal degeneratio... |
OMIM:607736 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... |
OMIM:118200 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Anteverted nares, Ataxia, Splenomegaly, Hydrocephalus, Cerebral atrophy, Abno... |
OMIM:272200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... |
OMIM:607791 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... |
ORPHA:99953 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Anteverted nares, Absent septum pellucidum, Prominent nose, Microcephaly, Inability to walk, Bulb... |
OMIM:618492 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebr... |
ORPHA:306669 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Delayed myelination, Chorea, Spastic tetrapl... |
OMIM:613811 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Dep... |
OMIM:615157 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Short att... |
OMIM:617854 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... |
OMIM:607634 |
Grant Syndrome |
|
Bowing of the long bones, Joint hyperflexibility, Abnormal pelvic girdle bone morphology, Abnorma... |
ORPHA:2097 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... |
OMIM:609311 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture, Multiple enchondromatosis |
OMIM:614569 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... |
ORPHA:71211 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop... |
OMIM:613162 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... |
OMIM:614172 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Severe short stature, Micromel... |
ORPHA:35107 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... |
OMIM:311070 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... |
OMIM:610967 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking |
OMIM:616684 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Microcephaly, Hydroc... |
OMIM:616034 |
Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... |
OMIM:259450 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand paresthesia, Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelin... |
OMIM:162500 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Diastrophic Dysplasia |
|
Proximal placement of thumb, Micrognathia, Micromelia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Posteriorly rota... |
ORPHA:2780 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Cach Syndrome |
|
Cerebellar atrophy, Dysphagia, Progressive neurologic deterioration, Microcephaly, Dysmyelinating... |
ORPHA:135 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... |
OMIM:618986 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, ... |
OMIM:614487 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Osteopetrosis,... |
OMIM:618541 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Cognitive impairment, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesis, Ba... |
ORPHA:171629 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ventriculomegaly, Ataxia, Neuronal loss in basal ganglia, H... |
ORPHA:248111 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... |
OMIM:617225 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Abnormal cerebral... |
OMIM:250100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... |
ORPHA:77299 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
Spinocerebellar Ataxia 17 |
|
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Park... |
OMIM:607136 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal myelination, A... |
ORPHA:85179 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexualit... |
OMIM:607485 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment |
OMIM:616155 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Frequent fa... |
OMIM:611228 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... |
OMIM:605588 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex... |
ORPHA:2324 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Increa... |
ORPHA:37748 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... |
ORPHA:2785 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... |
ORPHA:33543 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... |
ORPHA:90103 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circulating IgE level,... |
OMIM:147060 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Sensorineural hearing impairment, Osteopetrosis, Conductive hearing im... |
ORPHA:1522 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Superficial Siderosis |
|
Enlarged sylvian cistern, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Pro... |
ORPHA:247245 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Cavitation of the basal ganglia, Tremor, Rigidity, Chorea, Babinski sign, S... |
OMIM:606159 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairmen... |
OMIM:605285 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased... |
OMIM:136300 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Kufor-Rakeb Syndrome |
|
Tremor, Hypertonia, Ataxia, Parkinsonism, Gait disturbance, Myoclonus, Torticollis, Aggressive be... |
OMIM:606693 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowing of the legs, Delay... |
OMIM:300554 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Posteriorly rotated ears, Short stature, Micrognathia, Congenital... |
OMIM:617306 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Peripheral demyelination, Distal sensory impairment |
ORPHA:99944 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Delayed CNS myelination, Microcephaly, Thin corpus callosum, Atrophy/Degeneration affecting the b... |
OMIM:620200 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin... |
ORPHA:2658 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... |
OMIM:615206 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Thin... |
OMIM:252160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... |
OMIM:615490 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Subependymal cysts... |
ORPHA:478029 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 5th metacarpal, Short 4th metacarp... |
OMIM:619638 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn... |
ORPHA:667 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... |
ORPHA:401815 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial... |
OMIM:618184 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Os... |
ORPHA:3409 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Narrow nasal bridge, Probst bundles, Anteverted nares, Impulsivity, Aggressive behavior, Attentio... |
OMIM:618286 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... |
OMIM:259730 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... |
ORPHA:566943 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Lewy bodies, Parkinsonism, Akinesia, Impulsivity, Rigidity, Mental deterioration,... |
ORPHA:411602 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Tremor, Abnormal pyramidal sign, Loss of ambulation, Abnormal lower motor neuron morphology, Atax... |
OMIM:614298 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Low anterior hairline, Prelingual sensorineural hearing impairment, Clinodactyly of... |
ORPHA:73272 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... |
OMIM:271245 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... |
OMIM:619322 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Mye... |
OMIM:615284 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:241530 |
Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peri... |
OMIM:616287 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... |
OMIM:608703 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Delayed CNS myelination, Spastic tetraparesis, Microcephaly, Periventricular cysts, Simplified gy... |
OMIM:617668 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Short ph... |
ORPHA:221008 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:417 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, ... |
OMIM:252650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair... |
OMIM:607684 |
Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy... |
ORPHA:2801 |
Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Progressive spasticity, Focal T2 hyperintense basal ganglia lesion, Ataxia, Parkinsonism, Gait di... |
ORPHA:2822 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Recurrent fractures, Osteomalacia, Bone cyst, Bone pain, Os... |
ORPHA:93160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai... |
OMIM:600882 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... |
OMIM:600348 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Painless fractures due ... |
ORPHA:2583 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Microcephaly, Axonal degeneration,... |
OMIM:616811 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Anemia, Decrease... |
OMIM:612301 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis, Hearing impairment |
ORPHA:178377 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Optic atrophy, Small cerebral cortex, Co... |
ORPHA:2185 |
Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opt... |
OMIM:620352 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, Hyperactivity, Emotional lability, ... |
OMIM:610217 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Pontocerebellar Hypoplasia, Type 15 |
|
Delayed CNS myelination, Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocepha... |
OMIM:619302 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus... |
ORPHA:2771 |
De Sanctis-Cacchione Syndrome |
|
Ventriculomegaly, Ataxia, Microcephaly, Basal ganglia calcification, Axonal degeneration, Optic a... |
OMIM:278800 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Craniofacial oste... |
OMIM:618476 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Choanal atresia, Prominent nasal bridge, Reduced cer... |
OMIM:615095 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... |
ORPHA:309246 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Impaired distal proprioception, Segmental peripheral demyelination/remyelination, Impaired distal... |
OMIM:601455 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... |
ORPHA:77297 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Increa... |
OMIM:602080 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotempora... |
ORPHA:412066 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip |
ORPHA:314652 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro... |
OMIM:190320 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Delayed CNS myelination, Hyperactivity, Depressed nasal bridge, Microcephaly, Aggressive behavior... |
OMIM:615286 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppa... |
OMIM:615376 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Abnormal cerebral white matter morphology, Axonal degeneration |
OMIM:618138 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Microcytic anemia, Axonal degeneration, Falls, Tongue fasciculations |
OMIM:618811 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
Martsolf Syndrome 2 |
|
Broad nasal tip, Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Hypoplasia of the ... |
OMIM:619420 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Depression, Paresthesia, CNS demyelinatio... |
ORPHA:221091 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co... |
ORPHA:85184 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Impaired proprioception, Impaired vibration sensation in the lower limb... |
OMIM:609033 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femu... |
ORPHA:2063 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... |
OMIM:301078 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... |
OMIM:270550 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Leukoencephalopathy, Head tremor, Hyposmia, Intention ... |
OMIM:613724 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Hypoplasia of the... |
ORPHA:950 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Delayed CNS myelination, Cerebral palsy, Depressed nasal bridge, Ataxia, Ventriculomegaly, Microc... |
OMIM:619833 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Appendicular spasticity, Delayed CNS myelination, Inability to walk, Optic at... |
OMIM:618324 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Sparse hair, Microdon... |
ORPHA:221016 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short foot, Short palm |
ORPHA:93299 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Recurrent fractures, Anemia |
OMIM:618107 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal metaphysis morphology, ... |
ORPHA:436 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, B... |
OMIM:613849 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Bowing of the arm, ... |
OMIM:619131 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Ataxia, Microcephaly, Inability to walk, Cerebellar gliosis, Partia... |
ORPHA:79243 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Imp... |
ORPHA:99948 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... |
OMIM:300894 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... |
ORPHA:52430 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial... |
OMIM:122860 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... |
ORPHA:66624 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... |
ORPHA:561 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... |
ORPHA:1423 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Cerebral palsy, Delayed myelination, Poor gross motor coordination... |
ORPHA:2148 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Basal ganglia calcification, Abnormal pyramidal sign,... |
OMIM:618317 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowing of the legs, Delay... |
OMIM:300009 |
Lissencephaly 3 |
|
Agyria, Ataxia, Microcephaly, Spastic tetraplegia, Lissencephaly, Hypoplasia of the corpus callos... |
OMIM:611603 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Short palm, Conductive hearing impairment, Failure of ... |
ORPHA:3238 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease... |
OMIM:241500 |
Maffucci Syndrome |
|
Multiple enchondromatosis, Bone pain, Osteolysis, Recurrent fractures |
ORPHA:163634 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Smooth philtrum, Hepatomegaly, Low-set, posteri... |
ORPHA:1133 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Ventriculomegaly, Axonal degeneration/regeneration, Tremor, Inabili... |
OMIM:218000 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia, Cryptorchidism, ... |
ORPHA:1237 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti... |
OMIM:610968 |
Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Reduced bone mineral density, Protruding ear, Decreased body weight, Generalized ... |
OMIM:614856 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Micrognathia, Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared ... |
OMIM:215045 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short st... |
OMIM:184260 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Cerebrotendinous Xanthomatosis |
|
Abnormal globus pallidus morphology, Axonal degeneration, Abnormal pyramidal sign, Progressive ps... |
ORPHA:909 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flare... |
OMIM:615349 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenome... |
OMIM:620210 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Frontotemporal dementia, Frontal lobe dementia, Irri... |
OMIM:600274 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ataxia,... |
ORPHA:101085 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Flexion contracture, Abnormality of the ear, Knee flexion contracture, Cryptorchidi... |
OMIM:214150 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... |
OMIM:620315 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Delayed CNS myelination, Microcephaly, Partial agenesis of the corpus callosum, Lat... |
OMIM:619517 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment |
OMIM:601382 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Decreased female libido, Smal... |
ORPHA:330015 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly |
OMIM:618010 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination, Acanthocytosis |
OMIM:200100 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... |
ORPHA:88628 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc... |
ORPHA:3352 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Microcephaly... |
OMIM:609637 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke... |
ORPHA:157215 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... |
ORPHA:2796 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Frequent falls, Diaphragmatic paralysis |
OMIM:620011 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Idiopathic Juvenile Osteoporosis |
|
Bone pain, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Depressed nasal bridge, Long nasal bridge |
OMIM:162100 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... |
OMIM:201000 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limb... |
ORPHA:171680 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Abnormal pyramidal sign, Cerebral atrop... |
OMIM:256600 |
Foxg1 Syndrome |
|
Inability to walk, Delayed myelination, Abnormal repetitive mannerisms, Bruxism, Stereotypical ha... |
ORPHA:561854 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c... |
OMIM:616540 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... |
ORPHA:353298 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... |
ORPHA:1782 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia |
ORPHA:2772 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal dental en... |
ORPHA:2325 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Microcephaly, Optic atrophy, Tetraplegia, Cerebral atrophy, Hypertonia, Agenesis o... |
OMIM:274270 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thu... |
ORPHA:476126 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent fractures, Decreas... |
OMIM:616229 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Cerebral palsy, Optic nerve hypoplasia, Microcephaly, Hy... |
ORPHA:447788 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Spastic diplegia, Cerebral atrophy, Periventricular cysts, Abnormal basal ganglia m... |
ORPHA:255182 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... |
OMIM:222600 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Ataxia, Delayed peripheral m... |
ORPHA:464282 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal l... |
OMIM:252150 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Ventriculomegaly, Ataxia, Aggressive behavior, Trem... |
ORPHA:572798 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Inability to walk, Abnormal c... |
OMIM:613443 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Athetosis, Axonal loss, Gliosi... |
OMIM:300857 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Tapered finger, Postnatal growth retardation, Cryptorchidism, Broad fingert... |
ORPHA:2896 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Bone pain,... |
ORPHA:98850 |
Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Sy... |
OMIM:231670 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Wide nasal bridge, Lateral ventricle d... |
ORPHA:79326 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Anosmia, Spastic tet... |
OMIM:609136 |
Pelizaeus-Merzbacher Disease |
|
Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, ... |
OMIM:312080 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Mandibular prognathia, Short metatarsal, Clitoral hypoplasia, Sparse hair, Short meta... |
OMIM:614813 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... |
OMIM:616809 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... |
OMIM:224300 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Megaloblastic anemia, Atrophy of the spinal cor... |
ORPHA:79282 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flattened epiph... |
ORPHA:163649 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Failure to thrive, Brittle hair, Short stature, Increased circulating IgA level, Bil... |
OMIM:616395 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Hypothyroidism, Primary ad... |
ORPHA:2905 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Abnormal shoulder morphology, Chronic otitis media, Clinodactyly of the 5th ... |
ORPHA:10 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callosum, ... |
OMIM:615771 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Short stature, Camptodacty... |
OMIM:612350 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Impul... |
ORPHA:442835 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ... |
ORPHA:486 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Sho... |
OMIM:618363 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Microcephaly, Pachygyria, Wide nasal bridge, N... |
ORPHA:168486 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, O... |
ORPHA:3019 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Rigidity, Tremor, Depression, Bradykinesia, Fro... |
ORPHA:2828 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Clumsiness, Gait ataxia, Nonprogressive ... |
ORPHA:453521 |
Masa Syndrome |
|
Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai... |
OMIM:303350 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Myoclonus, Agenesis ... |
OMIM:605899 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Osteopor... |
OMIM:103580 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Brachydactyly, Dental crowding, Hearing impairment, Sple... |
OMIM:616354 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe... |
ORPHA:93315 |
Peho Syndrome |
|
Cerebellar atrophy, Pachygyria, Optic atrophy, Myoclonus, Peripheral dysmyelination, Hypoplasia o... |
OMIM:260565 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Abnormal cerebral w... |
OMIM:300100 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Osteoporosis, Cone-sh... |
ORPHA:71267 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo... |
ORPHA:2078 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Hip osteoarthritis, Joint hyperflexibility, Hip dysplas... |
ORPHA:63442 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Dementia, Hyposmi... |
OMIM:607060 |
Tangier Disease |
|
Peripheral axonal neuropathy, Impaired temperature sensation, Impaired pain sensation, Splenomega... |
OMIM:205400 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:614455 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Spastic tetraparesis, Delayed myelination, Simplified gyral pattern, Late... |
ORPHA:284417 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly |
OMIM:618266 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, C... |
OMIM:619955 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia |
OMIM:166990 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, CNS hypomyelination, Subependymal cy... |
OMIM:610015 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Optic atrophy, CNS hypomyelination, Neurodegeneration, Gliosis,... |
OMIM:616239 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Protruding ear, Cone-s... |
OMIM:190350 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4... |
OMIM:614450 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Dysplastic corpus callosum, Hypoesthesia... |
OMIM:619737 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short ... |
OMIM:614078 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Microcephaly, Inability to walk, Bulbous nose, Poor coordination, Abnor... |
OMIM:617695 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Leukodystrophy, Compulsive behaviors, Abnormal repetitive mannerisms, I... |
OMIM:619475 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... |
ORPHA:2863 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Delayed CNS myelination, Hyperactivity, Depressed nasal bridge, Reduced cerebral white matter vol... |
OMIM:620075 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum at... |
ORPHA:565624 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Bone pai... |
OMIM:307800 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... |
OMIM:230600 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Clitoral hypertrophy, Micrognathia, Hypoplastic pubic bone, Gingival... |
OMIM:614592 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion... |
OMIM:156400 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Wide... |
OMIM:230740 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... |
ORPHA:100024 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Overfolding of the superior helices, Extramedullary hematopoiesis, Clito... |
ORPHA:313855 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... |
ORPHA:101071 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Osteoporos... |
OMIM:612463 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... |
OMIM:113300 |
Gapo Syndrome |
|
Mandibular prognathia, Dysmenorrhea, Micrognathia, Decreased skull ossification, Alopecia, Short ... |
ORPHA:2067 |
Grange Syndrome |
|
Short palm, Syndactyly, Increased susceptibility to fractures |
ORPHA:79094 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... |
ORPHA:139399 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... |
OMIM:239000 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607831 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Chroni... |
ORPHA:96263 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Small basal gangli... |
ORPHA:2388 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Camptodactyly of finger, Micromelia, M... |
ORPHA:3206 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, Brittle hair, High, narrow palate, Protruding ear, Neutr... |
ORPHA:33364 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Shyness, Clinodactyly of the 5th finge... |
ORPHA:96264 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... |
ORPHA:249 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... |
ORPHA:488627 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic ... |
OMIM:617296 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Osteoporosis, Obesi... |
OMIM:612462 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Failure to thrive, Reduced... |
OMIM:615592 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Microcephaly, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... |
OMIM:241410 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic disc pallor, Anosmia, Optic atrophy, Distal sensory impairment, Steppage gait, Positive Rom... |
OMIM:601152 |
Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:915 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Cerebral atro... |
OMIM:616900 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Gray Platelet Syndrome |
|
Myelofibrosis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia |
OMIM:139090 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Neonat... |
OMIM:259775 |
Werner Syndrome |
|
Sparse scalp hair, Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiff... |
ORPHA:902 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bifid scrotum, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... |
OMIM:211380 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Osteoporosis, Increased susceptibili... |
OMIM:612199 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
Coffin-Siris Syndrome 2 |
|
Low anterior hairline, High palate, Short philtrum, Short stature, Cryptorchidism, Thick vermilio... |
OMIM:614607 |
Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent otitis media, Complete or near-complete absence of specific antibody response to unconj... |
OMIM:615401 |
Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... |
OMIM:215140 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py... |
OMIM:614833 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... |
OMIM:616897 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Abnormal cerebral w... |
ORPHA:352682 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Broad nasal tip, Microcephaly, Inability to walk, Wide nasal bridge, Later... |
OMIM:615716 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Short stature... |
OMIM:611209 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria, Wide nasal bridge |
OMIM:614870 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Hypoplasia of the ... |
OMIM:272460 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, Low anterior hairline,... |
ORPHA:420561 |
Trisomy 9P |
|
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Protruding e... |
ORPHA:236 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rig... |
OMIM:619725 |
Pycnodysostosis |
|
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... |
OMIM:265800 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Low anterior hairli... |
ORPHA:800 |
12Q14 Microdeletion Syndrome |
|
Short stature, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Synophrys, Downturned co... |
ORPHA:94063 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures |
OMIM:613982 |
Leukodystrophy, Hypomyelinating, 5 |
|
Cerebral white matter atrophy, Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hy... |
OMIM:610532 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Abnorm... |
ORPHA:2323 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Dental crowding, Short stature, Highly arched eyebrow, Micrognathia, Persistence of... |
OMIM:618342 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Babinski sign,... |
ORPHA:2524 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the... |
OMIM:618890 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Ollier Disease |
|
Micromelia, Joint stiffness, Precocious puberty, Osteolysis, Lymphangioma, Abnormal metaphysis mo... |
ORPHA:296 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg... |
ORPHA:235 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Spastic tetraparesis, Microcephaly, Poor coordination, Op... |
ORPHA:391428 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait at... |
OMIM:618321 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination |
ORPHA:101082 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Axonal degeneration, Degeneration of anterior horn cells, Diaphra... |
OMIM:604320 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets |
OMIM:613388 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Microcephaly, Bulbous nose, Hydrocephalus, Optic atrophy, Cerebral atroph... |
OMIM:614219 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Acrocephalopolydactyly |
|
Hepatosplenomegaly, Short long bone, Microtia, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Bone pain, Rickets, Osteomalacia |
OMIM:193100 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Short stature, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, ... |
ORPHA:177 |
Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Prominent nose, Micr... |
ORPHA:263487 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowin... |
ORPHA:1652 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Recu... |
OMIM:619281 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp... |
OMIM:235510 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... |
ORPHA:137834 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circula... |
ORPHA:2314 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom... |
OMIM:612541 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Microcephaly, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opist... |
OMIM:619847 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Abnormal thumb morphology, Hearing a... |
ORPHA:1842 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Recurrent upper respiratory tract infections, Optic atrop... |
ORPHA:3078 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin... |
OMIM:255800 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ... |
OMIM:211750 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Delayed CNS myelination, Anteverted nares, Microcephaly, Colpocephaly, Polymicrogyria |
OMIM:618731 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met... |
OMIM:602557 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Anosmia, Impaired proprioception, Painless fr... |
OMIM:243000 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis ... |
OMIM:619653 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Per... |
ORPHA:93325 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Prominent nose, Corpus callosum atrophy, Microcephaly, Aggressive behavior, Simplified gyral patt... |
OMIM:619244 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Arthralgia of the hip, ... |
ORPHA:166002 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hip dislocation, Retrognathia, High palate, Neutropenia, Limb undergro... |
OMIM:618005 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow il... |
OMIM:616294 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... |
OMIM:269300 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Attached earlobe, Toe syndactyly, Low-set, posteriorly rota... |
ORPHA:1327 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomegal... |
ORPHA:79259 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... |
ORPHA:320375 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Abnormal hair morphology, C... |
OMIM:250460 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Bilateral Generalized Polymicrogyria |
|
Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Spastic tetraplegia,... |
ORPHA:208447 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Incr... |
OMIM:209950 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... |
OMIM:616331 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... |
OMIM:613848 |
Laron Syndrome |
|
Delayed menarche, Short long bone, Severe short stature, Limb undergrowth |
OMIM:262500 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
Hydrolethalus |
|
Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis... |
ORPHA:2189 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-... |
ORPHA:166272 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing... |
ORPHA:949 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel... |
ORPHA:50945 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat... |
ORPHA:2928 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation |
OMIM:600252 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Micrognath... |
ORPHA:2980 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Hypoplastic ischia, Protruding ear, Clinodactyly of the 5... |
ORPHA:2616 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han... |
OMIM:162400 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ... |
OMIM:268400 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Ventriculomegaly, Facial-lingual fasciculations, Cerebral calcifica... |
OMIM:617281 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Micrognathia, Short toe, Os... |
ORPHA:633 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... |
OMIM:618736 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Abnormal toe morphology, Abnormal finger morphology, Hypophospha... |
OMIM:163200 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... |
OMIM:127000 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Short stature, Hypos... |
ORPHA:1816 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... |
OMIM:112240 |
Bloom Syndrome |
|
Micrognathia, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive... |
ORPHA:125 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria, Anteverted nares |
OMIM:300982 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Broad hallux, Slender finger, Generalized joint laxity, Small hand, Tibial bowing, In... |
ORPHA:251028 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... |
ORPHA:2741 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Recurrent fractures |
OMIM:620368 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Salt craving, Ataxia, Inability to walk, Periph... |
ORPHA:199343 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Thin upper lip vermilion, Hepatomegaly, Eosinophilia, Short st... |
OMIM:616651 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... |
ORPHA:93352 |
Gorlin Syndrome |
|
Hydrocephalus, Cerebral calcification, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Splenomegaly, Delayed skeletal maturation, Bone pai... |
ORPHA:77261 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Short philtrum, Hypocalcemia,... |
ORPHA:2136 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Join... |
ORPHA:2107 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Spastic tetraparesis, Microcephaly, Inability ... |
ORPHA:356961 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Short long bone,... |
OMIM:618188 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Dilated third ventricle, Babinski sign, Optic atrophy... |
ORPHA:314404 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Alopecia, Hypoplasia of penis, Short stature, Hypospadias, Abnormal ha... |
ORPHA:2315 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Anteverted nares, Ataxia, Wide nasal br... |
OMIM:608629 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Small for gestational age, Short stature, Cardiomegaly, Wide distal femora... |
OMIM:613320 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Agenesis of corpus callosum, Anosmia, Choanal atresia |
OMIM:147950 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Neonatal s... |
ORPHA:289 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Sparse scalp hair, Thick eyebrow, Short stature, Hearing impairment, Short distal p... |
OMIM:614608 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Vertigo, ... |
ORPHA:729 |
Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... |
OMIM:620099 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Posteriorly rotated ears, Rhizomelia, Craniosynostosis, Microg... |
ORPHA:93329 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... |
OMIM:619377 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m... |
ORPHA:1427 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Short stature, Cortical su... |
ORPHA:94089 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib... |
ORPHA:35687 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micrognathia, Micromelia, High, narrow palate, Synophrys, Downturned... |
OMIM:122470 |
Mccune-Albright Syndrome |
|
Pathologic fracture, Polyostotic fibrous dysplasia, Craniofacial hyperostosis |
OMIM:174800 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Lateral displaceme... |
OMIM:242900 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... |
ORPHA:2222 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Overfolded ... |
ORPHA:2631 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Accelerated skeletal maturation, Shoulder dislocation, Dislocated radial head, Rhizom... |
OMIM:245600 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Bulbous nose, Hydrocephalus, Optic atrophy, Simplified... |
OMIM:615219 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal... |
OMIM:210600 |
Mirage Syndrome |
|
Leukopenia, Microphallus, Hyponatremia, Short stature, Hypospadias, Cryptorchidism, Overlapping f... |
OMIM:617053 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Depression, Neurodegeneration, Ag... |
ORPHA:803 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Hemiplegia/hemiparesis, ... |
ORPHA:3157 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Decreased circul... |
OMIM:271510 |
Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os... |
OMIM:601559 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Depressed nasal bridge, Axonal degeneration, Cerebral atrophy, Dist... |
OMIM:609242 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Irritability, Myoclonus, Truncal ataxia, Agenesis of corpus c... |
OMIM:250620 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost... |
OMIM:614732 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Delayed CNS myelination, Cerebral calcification, Spastic tetraparesis, Microcep... |
OMIM:619487 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ... |
ORPHA:508533 |
Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Craniosynostosis, Micrognathia, Bilateral cryptorchidism, Hypoplasia of ... |
ORPHA:2409 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Short stature, Micromelia, Cryptorchidism, Limited elbow exten... |
OMIM:180870 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circ... |
OMIM:235200 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Ataxia, Severe demyelination of the white matter, Aggressive behavior, Inabilit... |
ORPHA:481152 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... |
OMIM:618761 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Delayed CNS myelination, Anteverted nares, Depressed nasal bridge, Microcephaly, Bulbous nose, La... |
OMIM:614105 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplas... |
ORPHA:562 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, High, narrow palate, Small hand... |
ORPHA:444002 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Prominent nasal bridge, Dysplastic corpu... |
ORPHA:357058 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... |
ORPHA:1528 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhe... |
ORPHA:2348 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, Microcephaly, CNS hypo... |
OMIM:618367 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Lateral ventricle dilatation, Hypoplasia of the corpus... |
ORPHA:420179 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Neutropenia, Abnormal bone... |
ORPHA:175 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Micrognathia, High pala... |
ORPHA:96170 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Larg... |
OMIM:271640 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Microcytic anemia, Taper... |
OMIM:611174 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Short stature, Large for gestational age, Thick low... |
ORPHA:2563 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Total anosmia |
OMIM:614879 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... |
OMIM:151210 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of t... |
ORPHA:2215 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Ataxia-Telangiectasia |
|
Failure to thrive, Hypopigmentation of hair, Short stature, Decreased circulating antibody level,... |
ORPHA:100 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Generalized hirsutism, Short stature, Gingival overgrowth, Hepatosplenomeg... |
ORPHA:354 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Hearing impairment, Th... |
ORPHA:508542 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... |
OMIM:112350 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Posteriorly rotated ears... |
OMIM:617237 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... |
ORPHA:1277 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ... |
OMIM:619148 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab... |
ORPHA:160 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
ORPHA:171433 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Tibial bowing, Congenital bilateral hip d... |
ORPHA:453510 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Microcephaly, Babinski sign, Hypertonia, Neurodegeneration, Gai... |
ORPHA:79244 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Absent brainstem auditory responses, Foot joint contracture,... |
ORPHA:90321 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
H Syndrome |
|
Microcytic anemia, Micropenis, Alopecia, Short stature, Cleft upper lip, Gingival overgrowth, Hep... |
ORPHA:168569 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebral palsy, Depressed nasal bridge, Anteverted nares, Microcephaly, ... |
OMIM:620001 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of... |
ORPHA:192 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ... |
ORPHA:355 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Intrauterin... |
OMIM:619751 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony c... |
OMIM:612731 |
Hogue-Janssen Syndrome 2 |
|
Delayed CNS myelination, Anteverted nares, Microcephaly, Inability to walk, Hydrocephalus, Gait a... |
OMIM:616362 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... |
OMIM:216400 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Long toe, Bowing of the long bones, Arachnodactyly, Recurrent fractures... |
OMIM:130070 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Ost... |
ORPHA:2169 |
Halperin-Birk Syndrome |
|
Inability to walk, Optic atrophy, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Colpoc... |
OMIM:618651 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia... |
ORPHA:169154 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Sinusitis, Absence of lymph node germinal center, Increased circulating IgE level, T... |
ORPHA:277 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Microhydranencephaly |
|
Prominent nasal bridge, Microcephaly, Spastic tetraplegia, Athetosis, Hydranencephaly, Pachygyria... |
OMIM:605013 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... |
ORPHA:536471 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Decreased number of large peri... |
ORPHA:298 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Short stature, Abnormality of the dentition, Synophrys, Macrotia... |
ORPHA:391307 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ... |
OMIM:257850 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Hypoplasia of the corpus callosum |
OMIM:615996 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Poor fine motor coordination, Bulbous nose, Lateral ventricle dilatation |
OMIM:618330 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Pontocerebellar Hypoplasia, Type 13 |
|
Anteverted nares, Microcephaly, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Hyp... |
OMIM:618606 |
Dpm1-Cdg |
|
Hepatomegaly, Tented upper lip vermilion, Sandal gap, Elevated circulating creatine kinase concen... |
ORPHA:79322 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Anteverted nares, Prominent nasal bridge, Microcephaly, ... |
OMIM:617751 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Depressed nasal bridge, Microcephaly, Focal polymicrogyria, Dysplastic corpus... |
OMIM:619103 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Wide anterior fonta... |
OMIM:619736 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... |
ORPHA:93324 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Flared metaphysis, Delaye... |
OMIM:218400 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Recon Progeroid Syndrome |
|
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Attached earlobe, Arachnodactyly, De... |
OMIM:620370 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Microg... |
ORPHA:280365 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogo... |
ORPHA:465508 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Femoral retroversion, Bowing of... |
OMIM:610682 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Frequent falls, Impai... |
ORPHA:99949 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Ankle clonus, L... |
OMIM:619995 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... |
OMIM:133540 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... |
ORPHA:534 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Short philtrum, Condu... |
ORPHA:819 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor... |
ORPHA:1855 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchid... |
ORPHA:96184 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, D... |
OMIM:605309 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility |
ORPHA:2582 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cu... |
OMIM:101200 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, Avascular necr... |
OMIM:230800 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c... |
ORPHA:79474 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Tooth malposition, ... |
OMIM:616541 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Cryptorchidism, Short ribs, Lo... |
ORPHA:1865 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Optic atrophy, Vocal cord paralysis, Dysphagia, Increase... |
ORPHA:500144 |
Rin2 Syndrome |
|
Brachydactyly, Joint hypermobility, Increased susceptibility to fractures |
ORPHA:217335 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle... |
ORPHA:666 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... |
ORPHA:2026 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Conical toot... |
ORPHA:2228 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro... |
OMIM:268310 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... |
OMIM:609981 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Severe short stature, Short stature, Hearing impairment,... |
OMIM:309900 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Small scrotum, Short stature, Clit... |
ORPHA:85201 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... |
OMIM:256050 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... |
ORPHA:289494 |
Desmosterolosis |
|
Failure to thrive, Posteriorly rotated ears, Rhizomelia, Micrognathia, Generalized osteosclerosis... |
OMIM:602398 |
Achondroplasia |
|
Rhizomelia, Hearing impairment, Hip joint hypermobility, Bowing of the legs, Short proximal phala... |
ORPHA:15 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... |
OMIM:177170 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... |
OMIM:612714 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thro... |
ORPHA:507 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Short stature,... |
OMIM:300867 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly... |
ORPHA:464 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Sparse eyebrow, Abn... |
ORPHA:884 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Sensor... |
OMIM:609616 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Short... |
OMIM:607812 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl... |
ORPHA:99843 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I... |
OMIM:616488 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616867 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3... |
ORPHA:2712 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Microt... |
OMIM:141300 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Short finger, Increased susceptibility to fractures |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamartoma of tong... |
OMIM:269860 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Low-set ears, Intra... |
ORPHA:85173 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Narrow mouth, Deep philtrum, Thick lower lip vermilion, C... |
OMIM:102370 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Thick upper lip vermilion, ... |
ORPHA:163654 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Metatarsus adductus, Wide anterior f... |
OMIM:249420 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Hearing impairment, Crypt... |
ORPHA:90322 |
De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Postnatal growt... |
ORPHA:2962 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b... |
OMIM:620269 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Frontal open bite, Micrognathia, Postnatal growth retard... |
OMIM:225410 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Bardet-Biedl Syndrome 17 |
|
Poor coordination, Anosmia, Cognitive impairment, Hyposmia, Polydipsia |
OMIM:615994 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Wide mouth, Delayed erupti... |
OMIM:618506 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Highly arched eyebrow, Sag... |
OMIM:145420 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Abnormal pinna morphology, Hypo... |
OMIM:610253 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Generaliz... |
ORPHA:3260 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... |
OMIM:617780 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... |
ORPHA:952 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... |
ORPHA:2250 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Increa... |
ORPHA:905 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Small for gestational age, Micrognat... |
OMIM:269880 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Preco... |
ORPHA:2637 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia, Optic atrophy, Facial palsy |
OMIM:144755 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo... |
ORPHA:168549 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ventriculomegaly, Short attention span, Ataxia, Microcephaly, Tremor, Inab... |
OMIM:619229 |
Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Splenomegaly, Bone pain, Decreased circulating antib... |
ORPHA:29073 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... |
ORPHA:2027 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... |
ORPHA:264580 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Colpocephaly, Hypoplasia of the corpus callosum, Short nose, Agenesis of corpus... |
OMIM:618619 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Sparse hair, Clino... |
ORPHA:2108 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat... |
ORPHA:93298 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menstruat... |
OMIM:269500 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... |
OMIM:193700 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint hyperflexibility, Abnormal... |
ORPHA:1803 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility |
OMIM:615220 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... |
ORPHA:231226 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Tibial bowing, Sho... |
OMIM:601812 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Wide nasa... |
OMIM:619179 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyse... |
OMIM:300863 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Facial palsy, Confusion, Abnormal basal ganglia morphology, Hemiparesis, Ab... |
ORPHA:68 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... |
OMIM:600972 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft p... |
ORPHA:2145 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Increased body weight, High palate, Otitis media, Con... |
OMIM:117550 |
Dubowitz Syndrome |
|
Aplastic anemia, Micrognathia, Protruding ear, High palate, Otitis media, Hypocholesterolemia, Cl... |
OMIM:223370 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ve... |
ORPHA:457279 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation, Multifocal cerebral wh... |
OMIM:600721 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Sensorineural hearing imp... |
OMIM:619269 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Low-set ears |
ORPHA:436151 |
Meningioma |
|
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Hydrocephal... |
ORPHA:2495 |
Achondrogenesis |
|
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... |
ORPHA:932 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Short finger, Increased susceptibility to fractures |
OMIM:253290 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Anteverted nares, Ataxia, Microcephaly, Tremor, Partial agenesis of the corpus callosum, Wide nas... |
OMIM:220111 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala... |
ORPHA:443811 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Coxa valga, Splenomegaly, Achilles tendon con... |
ORPHA:404454 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, S... |
ORPHA:255138 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Downturned cor... |
ORPHA:261494 |
Holoprosencephaly |
|
Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Microcep... |
ORPHA:2162 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduce... |
ORPHA:18 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:50814 |
Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Dental crowding, Delayed eruption of primary teeth, Microg... |
OMIM:609029 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Polyphagia |
OMIM:617885 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, Protru... |
ORPHA:3041 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Microdontia, Decreased cir... |
OMIM:620005 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Premature graying of hair, Nail dystroph... |
OMIM:620365 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... |
OMIM:611717 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, ... |
OMIM:212750 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Hyp... |
ORPHA:255210 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Spin... |
OMIM:618291 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... |
ORPHA:231214 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Hypochromic microcytic anemia, CNS hypomyelination, Secondary microce... |
OMIM:619423 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental... |
OMIM:612921 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Hallux valgus, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,... |
ORPHA:536467 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Joint stiffness, Micrognathia, Missing ribs, Limitation of ... |
ORPHA:1801 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Limitation... |
OMIM:252500 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Failure to thrive in infancy, Oligoarthritis, Growth delay, Decreased circulating to... |
OMIM:619510 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Abnormal socia... |
ORPHA:93932 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... |
ORPHA:36913 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp... |
ORPHA:2686 |
Distal Deletion 10Q |
|
Ataxia, Prominent nasal bridge, Clonus, Prominent nose, Microcephaly, Aggressive behavior, Unstea... |
ORPHA:96148 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Abnormal cranial nerve morphology |
ORPHA:2057 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasia, Decreased circula... |
OMIM:152800 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... |
OMIM:618914 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Short philtrum, Abnormal bone ossific... |
ORPHA:79324 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Bulbous nose, Periventricular cysts, Thick corpu... |
ORPHA:544488 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Persistence of primary teeth |
ORPHA:375 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Microcephaly, Optic atrophy, Simplified gyral pattern, Myoclonus, Dyspha... |
OMIM:617669 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L... |
ORPHA:156728 |
Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Spa... |
OMIM:250250 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... |
ORPHA:56304 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hepatomegaly, Short stature, H... |
OMIM:253200 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... |
ORPHA:464329 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... |
OMIM:612852 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc... |
ORPHA:2182 |
X-Linked Intellectual Disability, Wilson Type |
|
Delayed myelination, Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... |
ORPHA:181 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... |
OMIM:605822 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Anosmia, Ataxia |
OMIM:266500 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Short stature, Tapered finger, S... |
OMIM:301072 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... |
OMIM:269150 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... |
ORPHA:429 |
Prader-Willi Syndrome |
|
Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp... |
ORPHA:739 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Hypothyroidism, Pitu... |
ORPHA:733 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproportionate short sta... |
OMIM:617425 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Metap... |
OMIM:224400 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Hyperhidrosis, Premature grayi... |
ORPHA:1775 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of ... |
ORPHA:1597 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Large for gestati... |
ORPHA:96334 |
Even-Plus Syndrome |
|
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Short nose, Agenesis of corpu... |
OMIM:616854 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Neutropenia, Agenes... |
OMIM:609053 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvula, Genu varu... |
OMIM:615777 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Microcephaly, Anosmia, Pyrif... |
OMIM:147250 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... |
OMIM:613382 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Hearing ... |
OMIM:618150 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Frontotemporal hypertrichosi... |
OMIM:263210 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose |
OMIM:614838 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures, Microcytic anemia |
ORPHA:1656 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures |
ORPHA:319487 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Salt craving, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic... |
OMIM:612780 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... |
OMIM:207950 |
Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Anemia, Leukopenia,... |
OMIM:222700 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Refsum Disease |
|
Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Anosmia, Abnormal pyramidal sign |
ORPHA:773 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Joint hyperflexibility, Abnor... |
ORPHA:2050 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Joint stiffness, Delayed skeletal maturation, Elbow flexion c... |
OMIM:608328 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Elevated circulating growth hormone concentration, Micrognathia, Postn... |
OMIM:608747 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Microdontia, Short stature, Abnormal primary molar morphology, Decreased proportion ... |
ORPHA:1830 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Abnormality of the dentition, Synophrys, Small hand, Short foot, Down... |
ORPHA:238750 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Autoimmune thromb... |
OMIM:607944 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, Precocious puberty, Long fingers, Cryptorchidism, Synophrys, Hip d... |
ORPHA:96092 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Prominent nasal bridge, Anisocytosis, Microcephaly, Dysplastic corpus callosum, Hypertonia |
OMIM:604273 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Short stature, Micromelia, Postnatal growth retardation, Hy... |
OMIM:614800 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... |
OMIM:619727 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, High palate, Hepatic fibrosis, Sparse hair, Micr... |
OMIM:614091 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Short first... |
OMIM:601957 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Micrognathia, Cleft hard palate, Synophrys, Conductive hearing impairment, Clino... |
OMIM:300990 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... |
ORPHA:94068 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Depressed nasal bridge, Hydrocephalus, Head-banging, Self-injurious behavio... |
OMIM:619575 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormal fifth cranial nerve morphology, Abnormality of the sense of smell |
ORPHA:91412 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Large for gestational age, Clinodactyly, Short philtrum, Widely spaced teeth, S... |
OMIM:280000 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... |
ORPHA:1240 |
Hereditary Geniospasm |
|
Abnormal lower lip morphology, Abnormal social behavior |
ORPHA:53372 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Anteverted nares, Dysplastic corpus callosum, Wide nasal bridge, Sp... |
OMIM:618810 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Coxa valga, Micrognathia, Splenomegaly, Long fingers, Flexion contracture, Hypoplas... |
OMIM:608149 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast... |
ORPHA:798 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p... |
ORPHA:2751 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge, Frontalis muscle weakness |
OMIM:210745 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F... |
ORPHA:263463 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Sparse hair, Conductive hearing impair... |
OMIM:620186 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal dental ... |
ORPHA:568 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Short attention span, Anteverted nares, Hydrocephalus, Lateral ventricle dilatati... |
OMIM:612863 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Micromelia, Synophrys, Low anteri... |
ORPHA:199 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... |
OMIM:300200 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Short stature, Micromelia, Obesity... |
ORPHA:1035 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Abnormal carpal morphology, Obesity, Primary amenorrhea, Bilateral breast hypoplas... |
ORPHA:319675 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Microcephaly, Oral-pharyngeal dysphagia, Poor coordination, Optic atrophy, Spasti... |
OMIM:616878 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Delayed CNS myelination, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis ... |
OMIM:617260 |
Lathosterolosis |
|
Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis... |
OMIM:607330 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Posteriorly rotated ears, Decreased response to gro... |
OMIM:615866 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Elevated hemoglobin A1c, Abnormality of the sense of smell |
OMIM:616113 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Conductive hearing ... |
OMIM:171480 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... |
OMIM:618624 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Short sta... |
ORPHA:261323 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Recurrent fractures, Decreased circulating antibody level, Hand clenching, Overlapping fingers, D... |
OMIM:606056 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Microcephaly, Bulbous nose, Anosmia |
ORPHA:2316 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Macrotia, Elevated circulating creatine kinase concentration, Fine hair |
OMIM:272300 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Amish Lethal Microcephaly |
|
Spina bifida, Microcephaly, Optic atrophy, Irritability, Lissencephaly, Agenesis of corpus callos... |
ORPHA:99742 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth de... |
OMIM:616005 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiph... |
OMIM:615630 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Precocious puberty, Narrow mouth, Delayed eruption of permanent teeth, Short distal... |
OMIM:619356 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Anteverted nares, Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Lateral... |
ORPHA:464738 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape... |
OMIM:309350 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Osteoporosis, Genu valgum |
ORPHA:394 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures |
ORPHA:97290 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... |
ORPHA:2256 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Adducted thumb |
ORPHA:171430 |
Mulibrey Nanism |
|
Thickened cortex of long bones |
OMIM:253250 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex reversal, Micro... |
OMIM:612651 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... |
OMIM:214500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Short tibia, Mi... |
OMIM:617925 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Delayed CNS myelination, Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoen... |
OMIM:614924 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia... |
ORPHA:904 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Depressed nasal bridge, Absent septum pellucidum, Meni... |
ORPHA:397715 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... |
ORPHA:488632 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Decreased response to growth hormone stimulation test, ... |
OMIM:602152 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Short philtrum, Hypothyroidis... |
ORPHA:3258 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Sparse eyebrow, Cranial hyperost... |
OMIM:601345 |
Kallmann Syndrome With Spastic Paraplegia |
|
Spastic paraplegia, Anosmia, Ataxia |
OMIM:308750 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoi... |
ORPHA:331206 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, F... |
ORPHA:169160 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Limb pain, Pathologic fracture, Osteomyelitis |
ORPHA:36386 |
Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Osteoporosis, Decreased fe... |
ORPHA:2965 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... |
ORPHA:485 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:612702 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:581 |
Jeune Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... |
ORPHA:474 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Thrombocytopenia, Colpocephaly, Increased mean corpuscu... |
ORPHA:261250 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Brittle hair, Dental crowding, Joint hypermobility, Hypospadias, Joint stiffnes... |
OMIM:619184 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:610628 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Microcephaly, Abnormality of the sense of smell |
ORPHA:3201 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Increased susceptibility to fractures |
ORPHA:216866 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Hip disloca... |
OMIM:614381 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... |
ORPHA:2639 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Prema... |
OMIM:127550 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Anemia |
OMIM:620135 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Hypertriglyceridemia, Sinusitis, Thrombocytopenia, Splenomegaly, Flexi... |
OMIM:617591 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior hairline, Am... |
OMIM:260660 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Unsteady gait, Neurodegeneration, Dysphagia |
OMIM:615919 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Foot acroosteolysis, Osteolytic defects of the phalanges ... |
OMIM:102500 |
Neu-Laxova Syndrome |
|
Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Bifid uvu... |
ORPHA:2671 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microce... |
OMIM:620113 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... |
ORPHA:168563 |
Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Hypoalbumin... |
OMIM:617575 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Sagittal craniosynostosis, Micro... |
OMIM:616901 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Delayed skeletal maturation, Small hand, Short foot, Spina bifida occulta, Thickened ... |
ORPHA:488434 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Asplenia, Anosmia, Chronic rhinitis |
OMIM:244400 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hyposmia, Anosmia, Ataxia |
OMIM:308700 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... |
ORPHA:100924 |
Wilson Disease |
|
Hemolytic anemia, Poor motor coordination, Tremor, Splenomegaly, Hypoesthesia, Rigidity, Hand tre... |
OMIM:277900 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short s... |
OMIM:616482 |
Kallmann Syndrome |
|
Delayed skeletal maturation, Recurrent fractures, Reduced bone mineral density |
ORPHA:478 |
Slc39A8-Cdg |
|
Osteopenia, Abnormal blood zinc concentration, Failure to thrive in infancy, Craniosynostosis, Sh... |
ORPHA:468699 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Curly hair, Sparse scalp hair, Posteriorly rotated ears, Short statu... |
OMIM:607721 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Recurr... |
ORPHA:955 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Postnatal ... |
OMIM:619135 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Oligodontia, Hypodontia,... |
ORPHA:447896 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u... |
ORPHA:79665 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... |
OMIM:618935 |
Thanatophoric Dysplasia |
|
Hearing impairment, Joint stiffness, Micromelia, Abnormal sacroiliac joint morphology, Joint hype... |
ORPHA:2655 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal ... |
ORPHA:314679 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Micrognathi... |
OMIM:224410 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... |
ORPHA:63446 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Conical t... |
OMIM:308300 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... |
OMIM:608654 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Rickets |
OMIM:607765 |
Familial Dysautonomia |
|
Avascular necrosis, Osteolysis, Recurrent fractures |
ORPHA:1764 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci... |
ORPHA:90362 |
Noonan Syndrome 14 |
|
Curly hair, Posteriorly rotated ears, Short stature, Sparse eyebrow, Cryptorchidism, High, narrow... |
OMIM:619745 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Unsteady gait, Sensory axonal neuropathy, Peripheral hypomyelination |
OMIM:618733 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos... |
ORPHA:828 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Low anterior hairline, Premature graying of hair, High pa... |
ORPHA:769 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:244200 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, S... |
ORPHA:2636 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm |
ORPHA:168555 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Uplifted earlobe, Large for gestational age, Tapered finger, Abnormal... |
ORPHA:261652 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Cognitive... |
OMIM:146500 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Delayed skeletal maturation, Arthriti... |
ORPHA:93 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Lymphopenia, Apla... |
OMIM:102700 |
Oculoskeletodental Syndrome |
|
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Focal wh... |
ORPHA:557003 |
Immunodeficiency 31C |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... |
OMIM:614162 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi... |
OMIM:618825 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Median cleft lip, Short stature, Micromelia, Micrognathia, Postaxial hand polydac... |
OMIM:241800 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Low-s... |
ORPHA:818 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Lobulated tongu... |
OMIM:249000 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Increased circulating IgA lev... |
OMIM:615934 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma |
OMIM:175100 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent otitis media, Recurrent sinusitis, D... |
OMIM:615518 |
Hsd10 Disease |
|
Postnatal growth retardation, Abnormal social behavior, Hearing impairment |
ORPHA:391417 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Small e... |
OMIM:264090 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Decreased circulating antibody level, Clinodactyly of the 5th finger, Lym... |
ORPHA:1116 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat... |
ORPHA:293725 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:619120 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Metaphyseal irregularity, Recurrent fractures, Anemia |
OMIM:239200 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Delayed CNS myelination, Broad nasal tip, Tremor, Cortical dysplasia, Lateral vent... |
OMIM:617557 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Adnp Syndrome |
|
Abnormal finger morphology, Protruding ear, Advanced eruption of teeth, Joint laxity, Broad hallu... |
ORPHA:404448 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... |
ORPHA:2249 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Bone pain |
OMIM:259900 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Bone pain, Rickets |
OMIM:612089 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Proximal placement of thumb, Micrognathia, Microme... |
OMIM:270400 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, P... |
OMIM:210900 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Female hypogonadism, ... |
OMIM:208900 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... |
ORPHA:2633 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... |
ORPHA:565 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Wrinkly Skin Syndrome |
|
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Carious teeth, ... |
ORPHA:2834 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, Micrognathia, Leukopenia, T lymphoc... |
OMIM:242840 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Hurler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Progressive neurologic deterioration, Broad nasal tip, ... |
OMIM:607014 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatati... |
OMIM:613154 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu... |
ORPHA:37553 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Reduced bone mineral density, Agammaglobulinemia, Fine h... |
ORPHA:935 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature, Micromelia |
ORPHA:93283 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Micromelia, Abnormal eyelash morphology, Joint hyperflexibility... |
ORPHA:2220 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Annular pancreas, 2-3 toe syndactyly, Knee flexion contracture, Ir... |
OMIM:618162 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal fallopian tube morphology, Camptodactyly of finger, Rocker bottom f... |
ORPHA:99776 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, High palate, Hypocalcemia, Abnormality of the uterus, Abnormal fallopian tube morph... |
ORPHA:1655 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Short stature, Large tarsal bones, Micrognathia, ... |
OMIM:215150 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Sparse hai... |
OMIM:613610 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Decrea... |
OMIM:158350 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... |
ORPHA:79303 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Short stature, Precocious puberty, Long penis, ... |
OMIM:262190 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosin... |
OMIM:613179 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Genital ulcers, Oral ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Hepatoblastoma, Joint laxity, Hypospadias, Cryptorchidism, Prominent eyela... |
ORPHA:1465 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Anteverted nares, Depressed nasal bridge, Absent septum pellucidum, Microc... |
OMIM:300868 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Posteriorly rotated ears,... |
OMIM:247200 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bo... |
ORPHA:138 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Splenomegaly, Optic nerve dysplasia, Optic atrophy, Macrogyria, Hepatosplenom... |
OMIM:614866 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat... |
OMIM:300166 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Abscess, Eosinophilia, Sensorineural hearing impairment, Increased... |
OMIM:615816 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutis... |
OMIM:619636 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre... |
OMIM:278250 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Micromelia, Humeroradial synostosis,... |
OMIM:251230 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Deep philtrum, Finger joint hypermobility, Sparse hair, Joint laxity, Juvenile myelomonocytic leu... |
OMIM:613563 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, Oligodontia, Cli... |
OMIM:305600 |
Marshall-Smith Syndrome |
|
Hallux valgus, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, ... |
OMIM:602535 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Xylt1-Cdg |
|
Joint laxity, Hepatomegaly, Short stature, Coxa valga, Synophrys, Flared metaphysis, Cleft palate... |
ORPHA:370930 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Clonus, Narrow nasal tip, Cerebral white matter hypoplasia, Delayed myelination... |
ORPHA:477993 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... |
ORPHA:3107 |
Tetrasomy 9P |
|
Glue ear, Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, Inappropri... |
ORPHA:3310 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ... |
OMIM:300636 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Delayed skeletal maturation, Rickets, R... |
OMIM:613658 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Obe... |
OMIM:157980 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology |
OMIM:217150 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Micrognathia, Synophrys, Downturned corners of mouth, Short ph... |
OMIM:619297 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Lysinuric Protein Intolerance |
|
Osteopenia, Delayed skeletal maturation, Osteoporosis, Hepatosplenomegaly, Anemia, Leukopenia, De... |
ORPHA:470 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Hypoplast... |
OMIM:263650 |
Icf Syndrome |
|
Short stature, Abnormality of neutrophils, Micrognathia, Protruding tongue, Decreased circulating... |
ORPHA:2268 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Optic atrophy, Vocal cord paralysis, Distal sensory impairment, Poor f... |
ORPHA:99956 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Abnormality of t... |
ORPHA:284160 |
Aicardi Syndrome |
|
Delayed CNS myelination, Anteverted nares, Spina bifida, Microcephaly, Pachygyria, Partial agenes... |
OMIM:304050 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Rhizomelia, Coxa valga, ... |
ORPHA:263508 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Short stature, Camptodactyly of finger, Hypospadias, Micromelia, Non-midline cleft... |
ORPHA:1784 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Pain insensitivity, Emotional lability, Decreased number of small peripheral myeli... |
OMIM:256800 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Thrombocytopenia, Lateral ventricle dilatation, Polymicrogy... |
OMIM:617397 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short phalanx of fing... |
OMIM:616894 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Overweight, Persistence of hemoglobin F, Increased... |
OMIM:619769 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Hearing impairment, Joint stiffness, Hypoplastic ilia, Abn... |
ORPHA:1860 |
Weaver Syndrome |
|
Delayed CNS myelination, Depressed nasal bridge, Absent septum pellucidum, Slurred speech, Poor f... |
OMIM:277590 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Osteoporosis, Slender toe, Camptodactyly |
ORPHA:3063 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Short stature, Hypospadias, Cryptorch... |
ORPHA:2745 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed CNS myelination, Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking, Hyp... |
OMIM:618653 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Posteriorly rotated ears, Rhizomelia, Metaphyseal widening, ... |
OMIM:612813 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... |
OMIM:301043 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
3Mc Syndrome |
|
Abnormal pinna morphology, Craniosynostosis, Highly arched eyebrow, Bilateral cryptorchidism, Sup... |
ORPHA:293843 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, D... |
ORPHA:79500 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Thrombocytop... |
ORPHA:391487 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Postaxial hand polydactyly, Split ... |
ORPHA:2491 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnorma... |
ORPHA:3455 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Abnormality of th... |
ORPHA:906 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna... |
ORPHA:93333 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Se... |
OMIM:618820 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Microcephaly, Head-bangin... |
ORPHA:177907 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca... |
ORPHA:3472 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodact... |
OMIM:135900 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil... |
OMIM:617865 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly |
OMIM:619278 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Posterio... |
OMIM:618529 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, 4-5 finge... |
ORPHA:158687 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, Finger swelling, Pa... |
OMIM:309000 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, 2-3 toe s... |
OMIM:618870 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:614897 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Bone pain, Recurrent fractures |
ORPHA:416 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Micrognathia, Conical tooth, Protruding ear, Coarse hair, Widely spaced teeth, Conductive hearing... |
ORPHA:1071 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Bilateral conductive hearin... |
OMIM:617802 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616866 |
Thanatophoric Dysplasia Type 2 |
|
Brachydactyly, Short stature, Micromelia, Limitation of joint mobility, Joint hyperflexibility, A... |
ORPHA:93274 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Cardiomegaly, Narrow palate, Femoral bowing, Macroglossia, Short long b... |
OMIM:617022 |
Glycerol Kinase Deficiency |
|
Pathologic fracture, Osteoporosis |
OMIM:307030 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury |
OMIM:201300 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Pr... |
ORPHA:2879 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Nail dystrophy, Hypod... |
OMIM:616029 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Natal tooth, Overlapping toe, Posteriorly rotated ears, Craniosynostosis, Hypospad... |
OMIM:123790 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
Cushing Disease |
|
Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Intra-oral hyperpig... |
ORPHA:96253 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Postaxial polydactyly, Micrognathia, Micromelia, Missing... |
OMIM:617866 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thick v... |
ORPHA:530983 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Nail dystrophy, Bo... |
OMIM:619767 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f... |
ORPHA:1836 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Microcephaly, Dysphagia, Colpocephaly, Hypertonia, Neutropenia, Short nose, Lym... |
OMIM:618460 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Gonadotropin deficiency, Micropenis, Paroxysmal bursts ... |
ORPHA:672 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... |
OMIM:615688 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
Cockayne Syndrome |
|
Dry hair, Congenital contracture, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Agene... |
ORPHA:191 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Joint la... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Joint la... |
ORPHA:353277 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hyperhidrosis, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Ver... |
ORPHA:91347 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Head-banging, Hypoplasia of the corp... |
OMIM:618569 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Wide nose, Broad-based gait, Distal senso... |
ORPHA:477817 |
Eosinophilic Fasciitis |
|
Arthritis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ... |
ORPHA:93316 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Otitis media, Conductive hearing impairment, Joint laxity, Broad hallux, Short s... |
ORPHA:353281 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cys... |
ORPHA:1318 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Ataxia, Narrow nasal ridge, Microcephaly, Inability to walk, Colpocephaly |
OMIM:620083 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Sparse or absent eyelashes, Bre... |
ORPHA:1231 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skeletal maturation... |
ORPHA:77293 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Temporomandibular joint ankylosis, Lateral ... |
OMIM:164900 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Hepatomegaly, Short stature, Camptodactyly of finger, Coxa valga, Joint s... |
OMIM:231050 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... |
ORPHA:881 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Short ... |
OMIM:617799 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... |
OMIM:619143 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Hypospadias, Absent ... |
OMIM:275210 |
Brittle Cornea Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... |
OMIM:249700 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Highly arched eyebrow, Asymmet... |
OMIM:619124 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Delayed peripheral myelination, Microcephaly, Wide nasa... |
OMIM:605039 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture |
OMIM:614231 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ... |
OMIM:139210 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Ear pain, Nail dystrophy, Palmoplantar hyperhidrosis, A... |
ORPHA:2309 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... |
ORPHA:2152 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... |
ORPHA:2634 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Craniosynostosis, Micromelia, Posta... |
OMIM:200995 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Increased s... |
OMIM:252600 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Gm1 Gangliosidosis Type 1 |
|
Macrotia, Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Fl... |
ORPHA:79255 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al... |
OMIM:618727 |
Alg9-Cdg |
|
Micrognathia, Large fleshy ears, Narrow greater sciatic notch, Abnormal bone ossification, Bifid ... |
ORPHA:79328 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic ... |
ORPHA:83617 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Protruding ear, High palate, Clinodactyly of the 5th f... |
OMIM:268305 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d... |
ORPHA:85170 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia, Decreased c... |
OMIM:602668 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2238 |
Moebius Syndrome |
|
Facial palsy, Dysphagia, Abnormality of the sense of smell |
ORPHA:570 |
Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination, Hypertonia, Anosmia |
OMIM:611584 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Bulbous nose, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Macrovesicular hepati... |
OMIM:619127 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of th... |
ORPHA:401973 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... |
OMIM:163400 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem... |
OMIM:619142 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Mitten... |
OMIM:609638 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... |
OMIM:617604 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef... |
ORPHA:2756 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Bone pain, Osteomalacia |
OMIM:600740 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Sensorineural hearing imp... |
ORPHA:760 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Conductive hearin... |
ORPHA:2044 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... |
ORPHA:261537 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Depressed nasal bridge, Microcephaly, Splenomegaly, Spherocytosis, Anosmia |
ORPHA:251066 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Oral ulcer, Lymphadenopathy, Leukopenia, Arthritis, Ascites, Microangiopathic hemolytic... |
ORPHA:93552 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Autoamputation of digits, Osteomyelitis leading to amputation d... |
OMIM:256810 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Dysplastic corpus callosum, Ventriculomegaly, Low hanging columella |
ORPHA:363444 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... |
OMIM:614188 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang... |
ORPHA:2252 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro... |
ORPHA:363958 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Micrognath... |
OMIM:613457 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent sinusitis, Neutropenia, Lym... |
OMIM:614868 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Hepatomegaly, Short stature, Limited elbow movement, Limited wrist movement... |
OMIM:617809 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Hearing abnormality, Wi... |
ORPHA:2021 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... |
ORPHA:64 |
Syndromic Diarrhea |
|
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... |
ORPHA:84064 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Micromelia, Deep philtrum, Retrognat... |
ORPHA:1675 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... |
ORPHA:1908 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Posteriorly rotated ears,... |
ORPHA:171866 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormality of the pineal gland, Abnormal dental morphology, Underdeve... |
ORPHA:369950 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Male infertilit... |
OMIM:163950 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Cleft palate, An... |
ORPHA:2306 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Proximal placement of thu... |
OMIM:261540 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Decreased circulating antibody level |
ORPHA:99811 |
Fusariosis |
|
Brain abscess, Lung abscess, Osteomyelitis, Sinusitis, Abnormality of the spleen, Peritonitis, Ar... |
ORPHA:228119 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati... |
ORPHA:77301 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... |
OMIM:613091 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... |
ORPHA:549 |
Mosaic Trisomy 1 |
|
Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Polymicrogyria, Agenesis... |
ORPHA:1692 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Sensorineural hearing impa... |
ORPHA:79107 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia |
ORPHA:291 |
6Q Terminal Deletion Syndrome |
|
Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of th... |
ORPHA:75857 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Pachygyria, Agenesis of corpus callosum, Self-mutilation, Oppositional def... |
OMIM:607872 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasi... |
OMIM:602875 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Choanal atresia, Microcephaly, Dysplastic corpus callosum, Choanal stenosis, Spina bifida occulta... |
OMIM:151050 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Sparse hair, Wr... |
OMIM:268300 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea... |
ORPHA:1572 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Hypohidrosis |
OMIM:129550 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... |
ORPHA:261552 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Micromelia, Hypoplastic labia minora, Abnormal tibia morphology, Abnormalit... |
ORPHA:64755 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures |
OMIM:618644 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Small scrotum, Micrognathia, Flexion cont... |
OMIM:601803 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Frontal balding, Precocious puberty, Oligozoospermia, Hypokalemia, Increased... |
ORPHA:786 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Conductive hearing impairment, Chronic otitis media,... |
ORPHA:821 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Hearing impairment, M... |
OMIM:600383 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Finger syndactyl... |
OMIM:256520 |
Opsismodysplasia |
|
Short metacarpal, Posteriorly rotated ears, Rhizomelia, Hypoplasia of the odontoid process, Squar... |
OMIM:258480 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth, Short stature |
ORPHA:1861 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ventriculomegaly, Periventricular leukomalacia, Depressed nasal bridge, Optic nerve hypoplasia, D... |
ORPHA:500150 |
Ulbright-Hodes Syndrome |
|
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte... |
ORPHA:3404 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu... |
ORPHA:3214 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Neurodegeneration |
OMIM:253220 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Chronic myelogenous leukemia, Genu valgum, Slender long bon... |
ORPHA:636 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Emotional lability, Incoordination |
OMIM:223900 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Decreased circu... |
OMIM:619381 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Sh... |
OMIM:617337 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Hyposp... |
ORPHA:1662 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Hyperactivity, Glioma, Choanal atresia, Microcephaly, Long nose, T l... |
OMIM:251260 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Delayed CNS myelination, Microcephaly, Wide nasal bridge, Cerebral atrophy, Lateral ventricle dil... |
OMIM:300896 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Speech apraxia, Ataxia, Impulsivity, Prominent nose, Tremor, Dysplastic corp... |
OMIM:300967 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Delayed eruption of permanent teeth |
ORPHA:839 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Highly arched eyebrow, Female pseudohermaphroditism, Shawl scrotum, Cryptorchi... |
ORPHA:1519 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Decreased circula... |
ORPHA:51636 |
Craniopharyngioma |
|
Increased susceptibility to fractures |
ORPHA:54595 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac... |
OMIM:606170 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Mesomel... |
ORPHA:1765 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Spastic tetraparesis, Underdeveloped nasal alae, Microcephaly, Opisthotonus,... |
OMIM:614098 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
C Syndrome |
|
Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Dislocated radial head, Lo... |
ORPHA:1308 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenom... |
ORPHA:1359 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Micromelia, Adducted thumb, Generalized hypertrichosis, Fai... |
ORPHA:50810 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Sp... |
OMIM:617088 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micrognathia, Cleft upper lip, Preaxial hand polydac... |
ORPHA:93271 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equinovarus, Over... |
OMIM:619708 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
OMIM:619869 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
Acute Radiation Syndrome |
|
Vertigo, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, Microcephaly, ... |
ORPHA:364577 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Cleft maxill... |
ORPHA:508488 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Posteriorly rotated ears, H... |
OMIM:619479 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femo... |
OMIM:615503 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Enlarged labia minora, Hearing impairment, Gingival fib... |
OMIM:266270 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Elevated circulating creatine kinase concentration, Micro... |
OMIM:600092 |
Zttk Syndrome |
|
Depressed nasal bridge, Dysplastic corpus callosum, Optic atrophy, Wide nasal bridge, Spasticity,... |
OMIM:617140 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Increased susceptibility to fractures |
ORPHA:435628 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Pathologic fracture, Wide anterior fontanel, Hip dislocation |
ORPHA:90349 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Cystinosis, Nephropathic |
|
Splenomegaly, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum, Hypophosph... |
OMIM:219800 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... |
ORPHA:1811 |
Witteveen-Kolk Syndrome |
|
Delayed CNS myelination, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bri... |
OMIM:613406 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Multiple joint contract... |
ORPHA:464306 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc... |
ORPHA:171 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Schisis Association |
|
Micromelia, Small for gestational age, Cleft palate, Unilateral cleft lip |
ORPHA:63862 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ... |
OMIM:263520 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Natal tooth, Angular cheilitis, Sparse eyebrow, Nail dystrophy, Palm... |
OMIM:167210 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... |
ORPHA:199276 |
Primrose Syndrome |
|
Restlessness, Cerebral calcification, Anteverted nares, Depressed nasal bridge, Ataxia, Broad nas... |
OMIM:259050 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Conductive hearing impairment... |
ORPHA:709 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Speech apraxia, Ataxia, Prominent nasal bridge, Prominent nose, Aggressive b... |
ORPHA:466791 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr... |
OMIM:615948 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Xerostomia, Biliary cirr... |
ORPHA:289390 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Leopard Syndrome 1 |
|
Hyposmia, Spina bifida occulta, Depressed nasal ridge |
OMIM:151100 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Hypohidrosis, Marked delay in eruption of permanent teeth, Ye... |
OMIM:104570 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Chy... |
ORPHA:90363 |
Aspartylglucosaminuria |
|
Joint laxity, Delayed skeletal maturation, Vacuolated lymphocytes, Neutropenia, Pathologic fracture |
OMIM:208400 |
Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Do... |
ORPHA:3015 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia |
OMIM:619718 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Hypohidrosis,... |
ORPHA:2036 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Lip telangiectasia, Biliary cirrhosis, Cholesta... |
OMIM:613471 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hepatosplenomegaly, ... |
ORPHA:646 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Leuk... |
ORPHA:97685 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Cardiomegaly, A... |
OMIM:306955 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bifid scrotum, Short stature, Hypospadias, Supernumerary nipple, Uplif... |
OMIM:235730 |
Generalized Arterial Calcification Of Infancy |
|
Calcification of the auricular cartilage, Osteomalacia, Stippled calcification of the shoulder, A... |
ORPHA:51608 |
Scalp-Ear-Nipple Syndrome |
|
Depressed nasal bridge, Short columella, Anteverted nares, Lateral ventricle dilatation |
OMIM:181270 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail |
OMIM:601319 |
Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
Lacrimoauriculodentodigital Syndrome |
|
Anosmia, Choanal atresia, Dysphagia |
ORPHA:2363 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromeli... |
OMIM:616546 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Depressed nasal bridge, Anteverted nares, Aqueductal stenosis, Splenomegaly, Hydrocephalus, CNS h... |
OMIM:619534 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Microcephaly, Hydrocephalus, Wide nasal bridge, De... |
OMIM:147920 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Cholecystitis, Bilateral sensorineural hearing impairment |
ORPHA:309256 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior, Cholecystitis, Bilateral sensorineural hearing impairment |
ORPHA:309263 |
Metachromatic Leukodystrophy, Adult Form |
|
Bilateral sensorineural hearing impairment, Abnormal social behavior, Cholecystitis, Neoplasm of ... |
ORPHA:309271 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Abnormal social beh... |
ORPHA:314647 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathyroid adenoma, Abnormal socia... |
ORPHA:805 |