Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Costal cartilage calcification, Costochondral pain |
OMIM:118610 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Scoliosis, Hypoplasia of the odontoid proces... |
OMIM:609813 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
High palate, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensit... |
OMIM:308700 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Hypogonadotropic hypogonadism, Cirrhosis... |
OMIM:235200 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Hypergonadotropic hypogonadism... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Leukoencephalopathy, Gliosis, Cerebral atrophy, Basal ganglia calcification, Hypoplasia of the co... |
OMIM:221770 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... |
ORPHA:206594 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Decreased number of peripheral myelinated nerve fibers, Primary a... |
OMIM:607080 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypoplasia of... |
OMIM:604213 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Cerebral atrophy, Hypogonadism, Dysphagia |
OMIM:160900 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the ver... |
ORPHA:2790 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary ame... |
OMIM:610628 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism, Anosmia |
OMIM:616030 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Leukoencephalopathy, Hyposmia, Hypergonadotropic hypogonadism, Abnormal motor neuron morphology, ... |
OMIM:613724 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Testicular atrophy, Intestinal malrotation |
OMIM:601163 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1354 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Hyposmia |
OMIM:615996 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Short t... |
ORPHA:1801 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Small pituitary gland, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary ... |
OMIM:612702 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Abnormal periventricular white matter morphology, CNS demyel... |
OMIM:249900 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, A... |
OMIM:228300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... |
ORPHA:465508 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft palate, Hyposmia, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Agenesis o... |
OMIM:147950 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft palate, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Decreased testicular size, Ano... |
OMIM:614838 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601098 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cerebral calcification, Cirrhosis, Pancytopenia, Bone marrow hypocellularity,... |
OMIM:613987 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Cerebral atrophy, Thrombocytopenia, Hypothyroidism, Opt... |
OMIM:222300 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Anosmia, Decreased testicular size |
OMIM:614858 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... |
OMIM:187760 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Periph... |
OMIM:617672 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Hyposmia, Decreased circulating follicle ... |
OMIM:614897 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Impotence, Autonomic erectile dysfunction, Gliosis, Pseudobulbar paralysis, Leukodystrophy, Corpu... |
OMIM:169500 |
Krabbe Disease |
|
Hydrocephalus, Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, D... |
OMIM:245200 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Aplasia/Hypoplasia involving the nose, Cleft palate, Abnormality of the sense of sme... |
ORPHA:1135 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Null Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... |
ORPHA:280234 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Impaired oropharyngeal swallow response, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Gray matter heterotopia, Astrocytoma, Colon cancer, Glioblastoma m... |
OMIM:619101 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Cleft palate |
OMIM:612370 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Short nose, Hypogonadism, Short nasal septum, Anosmia |
OMIM:302950 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchi... |
OMIM:244200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Gliosis, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, CNS demyelina... |
OMIM:220111 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... |
ORPHA:101097 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum |
OMIM:615035 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate, Ele... |
OMIM:305400 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Dysphagia, Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ileu... |
OMIM:609136 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Gorlin Syndrome |
|
Hydrocephalus, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Cerebral calcifi... |
ORPHA:377 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Sensory axonal neuropathy... |
OMIM:157640 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy, Optic atrophy, Reduction of o... |
OMIM:312080 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Long thorax, Abnormal r... |
ORPHA:2635 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia |
OMIM:614839 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Anosmia, Hypogonadism |
OMIM:615267 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Delayed puberty, Hypogonadism |
OMIM:615270 |
Huntington Disease |
|
Cerebral atrophy, Abnormality of the sense of smell, Abnormal cerebral white matter morphology, D... |
ORPHA:399 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Wide nose, Dy... |
ORPHA:89844 |
Galloway-Mowat Syndrome 5 |
|
Microcephaly, Pachygyria, Peripheral demyelination |
OMIM:617731 |
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Anosmia |
OMIM:113480 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum |
ORPHA:2386 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Delayed puberty, Hyposmia |
OMIM:615271 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity |
OMIM:162500 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Beaded ribs |
OMIM:259440 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
Hydrolethalus |
|
Hydrocephalus, Cleft palate, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Age... |
ORPHA:2189 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Adult Krabbe Disease |
|
Morphological abnormality of the corticospinal tract, Morphological abnormality of the pyramidal ... |
ORPHA:206448 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Microcephaly, Patent ductus arteriosus, ... |
OMIM:147770 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Leukoencephalopathy, Decreased number of large peripheral myelinated nerve fibers, Demyelinating ... |
ORPHA:298 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal astrocyte morphology, CNS demyelination, A... |
ORPHA:217260 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Hepatomegaly, Cerebral atrophy, Splenomegaly, Abnormal periventricular white matte... |
OMIM:272200 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
8P11.2 Deletion Syndrome |
|
High palate, Hypoplasia of penis, Spherocytosis, Splenomegaly, Depressed nasal bridge, Hypogonado... |
ORPHA:251066 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Motor axonal neuropathy, Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... |
OMIM:618184 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Dermoid Cysts, Familial Frontonasal |
|
Papilledema, Nasal congestion, Dysphagia, Deviated nasal septum, Anosmia, Wide nasal bridge |
OMIM:600679 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Cleft palate, Hyposmia, Micropenis, Hypogonadotropic hypogonadi... |
ORPHA:478 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination |
OMIM:258650 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Cleft palate, Absent septum pellucidum, Optic nerve hypoplasia, Abnormality ... |
ORPHA:3157 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook |
OMIM:615633 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Hemivertebrae, Short ribs |
OMIM:173800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... |
OMIM:600882 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Short neck, Hyperlordosis, Abnormal rib... |
ORPHA:2522 |
Lesch-Nyhan Syndrome |
|
Dysphagia, Testicular atrophy, Vomiting |
OMIM:300322 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Axonal degeneration, Hyposmia, Peripheral axonal degeneration, Decreased number of peripheral mye... |
OMIM:608720 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Cleft palate, Microcephaly, Choanal atresia, Hypogonadism, Facial palsy, Anosmia |
ORPHA:2316 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Prolonged neonatal jaundice, Depressed nasal ridge, Macroglossi... |
ORPHA:442 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Recurrent bronchitis, Male infert... |
OMIM:244400 |
Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Pectus carinatum, Spina bifida occulta, Supern... |
ORPHA:64755 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, High palate, Decreased sensory nerve conduction velocity, Onion bulb formation, ... |
OMIM:218000 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... |
OMIM:604360 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Achalasia, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:252320 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, ... |
OMIM:619737 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... |
OMIM:601455 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Achalasia, Decreased sensory nerve conduction velocity, Peripheral demyelination |
OMIM:609033 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Abnormality of the nares, Hypogonadotropic hypogonadism, Shor... |
ORPHA:1295 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies |
ORPHA:2234 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Kyphoscoliosis, Relatively short spine, Short ribs, Platyspondyly, Scolio... |
OMIM:156530 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic atrophy, Achlorhydria, H... |
OMIM:252650 |
X-Linked Intellectual Disability, Snyder Type |
|
High palate, Bulbous nose, Testicular atrophy, Cleft palate, Abnormality of the Leydig cells, Hyp... |
ORPHA:3063 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Glio... |
OMIM:604484 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Short nose, Periphera... |
OMIM:252160 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Cleft palate, Depressed nasal ridge, Anterior hypopituitarism, Ambigu... |
OMIM:601016 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia, Delayed puberty |
OMIM:274190 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
High palate, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotrop... |
ORPHA:273 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Thin ribs, Short ribs |
OMIM:618188 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Axial Spondylometaphyseal Dysplasia |
|
Narrow chest, Thoracic scoliosis, Short ribs, Platyspondyly, Scoliosis, Aplasia/Hypoplasia of the... |
ORPHA:168549 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Abnor... |
OMIM:250100 |
Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Optic atrophy, Median cleft lip and pa... |
ORPHA:2162 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... |
OMIM:302800 |
Ichthyosis And Male Hypogonadism |
|
Hypogonadotropic hypogonadism, Polyneuritis, Hyperchromic macrocytic anemia, Gonadotropin deficie... |
OMIM:308200 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Short neck, Severe platyspondyly |
OMIM:151210 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology |
ORPHA:93267 |
Lissencephaly, X-Linked, 2 |
|
High palate, Gliosis, Micropenis, Ambiguous genitalia, Lissencephaly, Decreased testicular size, ... |
OMIM:300215 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... |
ORPHA:474 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation test, Holoprose... |
OMIM:147250 |
Peho Syndrome |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Short nose, Peripheral dysmyeli... |
OMIM:260565 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Anosmia, Micropenis, Hyposmia |
OMIM:615994 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Short neck, Scoliosis, Abnormal form of the ... |
ORPHA:2311 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Midgut malrotation, Decreased testicular... |
ORPHA:2326 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Hepatomegaly, Cleft palate, Macrovesicular hepat... |
OMIM:614924 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Mirage Syndrome |
|
Adrenal insufficiency, Hydrocephalus, Lymphopenia, Gastroesophageal reflux, Hypergonadotropic hyp... |
OMIM:617053 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Abnormality of the sense of smell, Glossoptosis, Microcephaly, Submucous cle... |
ORPHA:3201 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Anosmia, Hyposmia |
OMIM:617885 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Short nose, Periphera... |
OMIM:252150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs |
OMIM:610319 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Microcephaly, Decreased nerve conduction velocity |
OMIM:615284 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Facial palsy, Anosmia, Hyposmia |
OMIM:144755 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Abnormal rib morphology |
ORPHA:1703 |
8Q21.11 Microdeletion Syndrome |
|
High palate, Hypoplasia of penis, Abnormality of the sense of smell, Wide nose, Cryptorchidism, U... |
ORPHA:284160 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Dysplastic corpus callosum, Hypoplasia of penis, Intestinal malrotation, Polymicrog... |
ORPHA:2328 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... |
ORPHA:2180 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Short thorax, Abnormal rib morphology |
ORPHA:93298 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, ... |
OMIM:609616 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... |
OMIM:601152 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
External genital hypoplasia, Hypoplasia of penis, Hyposmia, Cleft palate, Bifid uvula, Hypogonadi... |
ORPHA:2250 |
Even-Plus Syndrome |
|
High palate, Anal atresia, Dysplastic corpus callosum, Depressed nasal ridge, Bifid nasal tip, Sh... |
OMIM:616854 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1836 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Abnormal fifth cranial nerve morphology, Choanal atresia, Clef... |
ORPHA:91412 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Bulbous nose, Dysplastic corpus callosum, Small basal ganglia, Cerebral atrophy, Macroglossia, Pe... |
OMIM:616900 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Abnormal cranial nerve morphology, Anosmia |
ORPHA:2057 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Leukoencephalopathy, Hydrocephalus, Megaloblastic anemia, Severe demyelination of the white matte... |
ORPHA:79282 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter atrophy,... |
ORPHA:464282 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Malabsorption, Aganglionic megacolon, Cryptorchidism, Hypoplas... |
ORPHA:452 |
Autosomal Spastic Paraplegia Type 58 |
|
Abnormal cerebral white matter morphology, Microcephaly, Cerebral atrophy, Peripheral demyelination |
ORPHA:397946 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Broad ribs... |
OMIM:619698 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Dysplastic corpus callosum, Hepatomegaly, Micropenis, Peripheral axonal neuropa... |
OMIM:618810 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies |
ORPHA:1486 |
Moebius Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormality of the sense of smell, H... |
ORPHA:570 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Frontalis muscle weakness, Anosmia, Wide nasal bridge |
OMIM:210745 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Short neck, Abnormal form of the vertebral bodies, Bell-shaped thorax, ... |
ORPHA:2021 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology |
ORPHA:2097 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
High palate, Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Dysphagia, Antever... |
OMIM:620001 |
Meningioma |
|
Hydrocephalus, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituita... |
ORPHA:2495 |
Cockayne Syndrome A |
|
Thymic hormone decreased, Abnormal peripheral myelination, Slender nose, Normal pressure hydrocep... |
OMIM:216400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Uterus didelphys, Polymicrogyria, Short nose, Clitoral hypertrophy, Chordee, Gray m... |
OMIM:618820 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... |
ORPHA:90103 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs |
ORPHA:2759 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Peripheral axonal neuropathy, C... |
OMIM:619955 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... |
OMIM:614833 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Scoliosis, Abnormal rib morphology, ... |
ORPHA:1988 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Thin ribs, Short neck, Platyspondyly, Scoliosis |
OMIM:618395 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Bulbous nose, Dysplastic corpus callosum, Hypospadias, Depressed nasal bridge, Microcephaly, Part... |
OMIM:619103 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Anosmia, Hyposmia |
OMIM:243000 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Down-sloping shoulder... |
ORPHA:392 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Refsum Disease |
|
Anosmia, Splenomegaly |
ORPHA:773 |
Leukodystrophy, Hypomyelinating, 5 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Cerebral white m... |
OMIM:610532 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Bicornuate uterus, Aplasia/Hypoplasia of the tongue, Abnormality of the sense of sme... |
ORPHA:958 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs |
OMIM:200610 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Gastroesophageal reflux, Impaired oropharyngeal swallow response, Abn... |
ORPHA:2524 |
Freesia Flowers, Inability To Smell |
|
Specific anosmia |
OMIM:229250 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Trigeminal Neuralgia |
|
Cranial nerve compression, Peripheral demyelination, CNS demyelination |
ORPHA:221091 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Anal atresia, Dysplastic corpus callosum, Velopharyngeal insufficiency, Low hanging columella, Mi... |
ORPHA:363444 |
Diastrophic Dysplasia |
|
Kyphosis, Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Abnorma... |
ORPHA:628 |
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 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Micropenis, Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism, Anosmia |
OMIM:619718 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Decreased nerve conduction velocity, Hyposmia, Splenomegaly, Ci... |
OMIM:277900 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia |
OMIM:614879 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Pectus carinatum, Hyperlor... |
ORPHA:582 |
Parkinson Disease 8, Autosomal Dominant |
|
Substantia nigra gliosis, Lewy bodies, Hyposmia |
OMIM:607060 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Narrow palate, Supernumerary nipple, Gastroesophageal reflux, Intestinal... |
OMIM:605039 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Paralytic ileus, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum... |
ORPHA:254930 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High palate, Bulbous nose, Hydrocephalus, Leukodystrophy, Depressed nasal tip, Short uvula, Short... |
OMIM:619475 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Macrovesicular hepatic steatosis, Decr... |
OMIM:256810 |
Spinocerebellar Ataxia 25 |
|
Abnormal cerebral white matter morphology, Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Slender nose, Normal pressure hydrocephalus, Basal ganglia calci... |
OMIM:133540 |
Achondrogenesis, Type Ia |
|
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... |
OMIM:200600 |
Campomelic Dysplasia |
|
Cleft palate, Abnormality of the sense of smell, Depressed nasal bridge, Male pseudohermaphroditi... |
ORPHA:140 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Optic atro... |
ORPHA:171629 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Platyspondyly, Pectus carinatum |
ORPHA:93351 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Short neck, Scoliosis, Abnormal rib morphology |
OMIM:611209 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Anosmia, Hypogonadism, Cryptorchidism, Aganglionic megacolon |
OMIM:613266 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
High palate, Supernumerary nipple, Micropenis, Hyposmia, Microcephaly, Hypoplasia of the corpus c... |
OMIM:618653 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Sensory axonal neuropathy, Morphological abnormality of the pyramidal tract, Decreased number of ... |
OMIM:256850 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Male sexual dysfunction, Hyposmia |
ORPHA:2828 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Short nose, Protrudi... |
OMIM:619179 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Cleft palate, Micropenis, Aplasia of the nose, Hypogonadotropic hypogonadism, Primar... |
OMIM:603457 |
Leopard Syndrome 1 |
|
Hypoplasia of the ovary, Depressed nasal ridge, Micropenis, Delayed menarche, Hyposmia, Hypospadi... |
OMIM:151100 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology |
ORPHA:2319 |
Charge Syndrome |
|
Labial hypoplasia, Cleft palate, Depressed nasal bridge, Tracheoesophageal fistula, Optic atrophy... |
ORPHA:138 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy |
OMIM:614116 |
Kufor-Rakeb Syndrome |
|
Dysphagia, Anosmia, Hyposmia |
OMIM:606693 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Absence of pubertal development, Hypospadias... |
ORPHA:314679 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Hepatomegaly, Anisocytosis, Microcephaly, Prominent nasal bridge |
OMIM:604273 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Kyphosis, Short neck, Pectus carinatum |
ORPHA:3082 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal basal ganglia morphology, Hyposmia, Myocardial necrosis, Abnormality of the adrenal glan... |
ORPHA:68 |
Oculocerebrodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions, Depressed nasal bridge, Broad columella, ... |
ORPHA:557003 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
Hereditary Late-Onset Parkinson Disease |
|
Gliosis, Cerebral cortical atrophy, Hyposmia, Lewy bodies, Dysphagia |
ORPHA:411602 |
Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Micropenis, Hypoplastic spleen, Ankyloglossia, Asplenia |
OMIM:602361 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Microcephaly, Sensory axonal neuropathy, Abnormal cerebral white... |
ORPHA:466768 |
Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Scoliosis, Missing ribs |
ORPHA:1488 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Glutaric Acidemia I |
|
Delayed myelination, Hepatomegaly, Symmetrical progressive peripheral demyelination |
OMIM:231670 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Pachygyria, Thick cerebral cortex, Primary microcephaly, Prominent na... |
ORPHA:357058 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology |
ORPHA:436 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Peripheral hypomyelination, Sen... |
OMIM:618733 |
Melnick-Needles Syndrome |
|
Narrow chest, Short clavicles, Scoliosis, Abnormal rib morphology, Anisospondyly, Short thorax |
ORPHA:2484 |
Charge Syndrome |
|
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Hypoplas... |
OMIM:214800 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Hepatomegaly, Hypochromic microcytic anemia, CNS hypomyelination, Sec... |
OMIM:619423 |
Microgastria-Limb Reduction Defects Association |
|
Aganglionic megacolon, Bicornuate uterus, Gastroesophageal reflux, Intestinal malrotation, Spleno... |
OMIM:156810 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Demyelinating peripheral neuropathy, Hepatomegaly, Segmental peripheral demyelination/remyelinati... |
ORPHA:255210 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Bulbous nose, Dysplastic corpus callosum, Lateral ventricle dilatation, Pe... |
ORPHA:544488 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... |
ORPHA:1834 |
Prune Belly Syndrome |
|
Abnormal rib morphology, Pectus excavatum, Scoliosis, Vertebral segmentation defect |
ORPHA:2970 |
Cole-Carpenter Syndrome |
|
Abnormal rib morphology, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... |
OMIM:270550 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Thin ribs, Platyspondyly, Scoliosis, Broad ribs, Vertebral compression fracture |
OMIM:613848 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Vertebral compression fracture, Thin ribs |
OMIM:617952 |
Renpenning Syndrome |
|
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology |
ORPHA:3242 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
Bloom Syndrome |
|
Azoospermia, Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Superficial Siderosis |
|
Dysgyria, Partial anosmia, Abnormality of the vestibulocochlear nerve, Anosmia, Abnormal corpus c... |
ORPHA:247245 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Gastroesophageal reflux, Decreased nerve ... |
OMIM:201300 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:3035 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Gastrointestinal dysmotility, Hyposmia |
OMIM:616488 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Pectus carinatum, Hyperlordosis |
ORPHA:3068 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... |
ORPHA:488627 |
Occipital Horn Syndrome |
|
Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Abnormality of the sense of smell, C... |
ORPHA:198 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Phaver Syndrome |
|
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies |
ORPHA:2876 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Focal white matter lesions, Decreased sensory nerve conduction velocity, Onion ... |
ORPHA:320375 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Patent ductus arteriosus, Hyp... |
OMIM:601186 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Gray matter heterotopia, Plexiform neurofibroma, Pleomorphic xanth... |
OMIM:276300 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... |
OMIM:208920 |
Fanconi Anemia, Complementation Group L |
|
Chromosomal breakage induced by crosslinking agents, Chromosome breakage |
OMIM:614083 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... |
ORPHA:320406 |
Trisomy 13 |
|
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology |
ORPHA:3378 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... |
OMIM:308205 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:2167 |
Campomelia, Cumming Type |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Abnormal thorax morphology |
ORPHA:1318 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicle, Abnormal rib morph... |
ORPHA:2769 |
East Syndrome |
|
Hyperaldosteronism, Peripheral axonal neuropathy, Peripheral hypomyelination, Increased circulati... |
ORPHA:199343 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:101085 |
Poland Syndrome |
|
Sprengel anomaly, Vertebral segmentation defect, Kyphosis, Abnormal sternum morphology, Asymmetry... |
ORPHA:2911 |
Alagille Syndrome |
|
Vertebral segmentation defect, Abnormal form of the vertebral bodies, Spina bifida occulta, Abnor... |
ORPHA:52 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Median cleft lip and palate, Hypopl... |
ORPHA:699 |
Melanoma, Cutaneous Malignant, Susceptibility To, 9 |
|
Melanoma |
OMIM:615134 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability |
ORPHA:175 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Short neck, Abnormal rib morphology |
OMIM:251230 |
Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination, Anosmia |
OMIM:611584 |
Pyknoachondrogenesis |
|
Enlarged thorax, Unossified sacrum, Short ribs, Poorly ossified vertebrae, Horizontal ribs, Short... |
ORPHA:3003 |
Cleidocranial Dysplasia |
|
Narrow chest, Short clavicles, Down-sloping shoulders, Scoliosis, Spina bifida occulta, Abnormal ... |
ORPHA:1452 |
Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Zttk Syndrome |
|
High palate, Dysplastic corpus callosum, Intestinal atresia, Depressed nasal bridge, Bifid uvula,... |
OMIM:617140 |
Cenani-Lenz Syndrome |
|
Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3258 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Wide nose, Decreased nerve conduction vel... |
ORPHA:477817 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae |
ORPHA:3301 |
Lacrimoauriculodentodigital Syndrome |
|
Bicornuate uterus, Xerostomia, Bifid uvula, Abnormal salivary gland morphology, Lacrimal gland ap... |
ORPHA:2363 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Depressed nasal ridge, Median cleft lip and palate, Anterior pituitary agenesis, Abnormal prolact... |
ORPHA:95494 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Hypothyroidism, Wide... |
OMIM:618569 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:600901 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Platyspondyly, Narrow chest, Abnormal rib morphology |
ORPHA:93317 |
Mosaic Trisomy 8 |
|
Narrow chest, Vertebral segmentation defect, Short neck, Scoliosis, Abnormal rib morphology |
ORPHA:96061 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Bulbous nose, Cleft palate, Microcephaly, Short nose, Delayed peripheral myelination, Short colum... |
ORPHA:364577 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Abnormal rib morphology |
OMIM:617604 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thick corpus callosum, Dysplastic corpus callosum, Gastroesophageal reflux, Cryptorchidism, High,... |
OMIM:300967 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227645 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3015 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cleft palate, Depressed nasal bridge, Polymicrogyria, Hypoplasia of the corpus callosum, Optic at... |
ORPHA:500150 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Gastroesophageal reflux, Depressed nasal bridge, Hypothyroidism, Shor... |
OMIM:619426 |
Vacterl/Vater Association |
|
Abnormal rib morphology, Abnormal sacrum morphology, Vertebral segmentation defect, Abnormal inte... |
ORPHA:887 |
Fanconi Anemia |
|
Azoospermia, Abnormality of chromosome stability |
ORPHA:84 |
Witteveen-Kolk Syndrome |
|
High palate, Depressed nasal bridge, Hypoplasia of the corpus callosum, Short nose, Delayed CNS m... |
OMIM:613406 |
Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column |
ORPHA:1163 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Short neck, Scoliosis, Abnormal rib morpholo... |
ORPHA:93473 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability |
ORPHA:647 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Gastroesophageal reflux, Cryptorchidism, Supernumerary nipple, High, ... |
ORPHA:466791 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Abnormal rib morphology, Kyphosis, Pectus excavatum, Scoliosis |
ORPHA:2215 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Hyperaldosteronism, Peripheral hypomyelination, Increased circulating ... |
OMIM:612780 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227646 |
Choreoacanthocytosis |
|
Small basal ganglia, Cerebral cortical atrophy, Frontal cortical atrophy, Hepatomegaly, Splenomeg... |
ORPHA:2388 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Charcot-Marie-Tooth Disease Type 4C |
|
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Facial paralysis,... |
ORPHA:99949 |
Antley-Bixler Syndrome |
|
Narrow chest, Abnormal rib morphology |
ORPHA:83 |
Trisomy 1Q |
|
Abnormal rib morphology, Short thorax |
ORPHA:261344 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Schwartz-Jampel Syndrome |
|
Sprengel anomaly, Kyphosis, Pectus excavatum, Spinal rigidity, Abnormally straight spine, Abnorma... |
ORPHA:800 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Abnormality of the vertebral column, Short neck, Abnormal rib morphology |
ORPHA:77301 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings, Tongue atrophy |
ORPHA:99956 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Scoliosis, Abnormal vertebral segmentation and fusion, Abnormal rib morphology |
ORPHA:90652 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Scoliosis, Abnormal lumbar spine morphology, Abnormal rib morpholog... |
ORPHA:249 |
Osteogenesis Imperfecta |
|
Narrow chest, Kyphosis, Cervical kyphosis, Pectus excavatum, Thin ribs, Multiple rib fractures, E... |
ORPHA:666 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal rib morphology, Short neck, Spina bifida occulta |
ORPHA:488434 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Gastroesophageal reflux |
OMIM:223900 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
Mucopolysaccharidosis Type 3 |
|
Abnormal rib morphology, Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:581 |
Myhre Syndrome |
|
Abnormal rib morphology, Platyspondyly |
ORPHA:2588 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Short neck, Scoliosis, Abnormal rib morphology, ... |
ORPHA:373 |
Monosomy 9P |
|
Abnormal rib morphology, Abnormality of the vertebral column, Short neck, Scoliosis |
ORPHA:261112 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Narrow chest, Scoliosis, Abnormal rib morphology, Hypoplastic scapulae, Abnormal vertebral morpho... |
ORPHA:95699 |
Ulbright-Hodes Syndrome |
|
Short sternum, Thin ribs, Short ribs, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... |
ORPHA:3404 |
Trisomy 18 |
|
Abnormal rib morphology |
ORPHA:3380 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:818 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology |
ORPHA:2907 |
Alagille Syndrome 1 |
|
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch |
OMIM:118450 |
Pagod Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:991 |
Vater/Vacterl Association |
|
Abnormal rib morphology, Abnormal sternum morphology, Scoliosis, Abnormal vertebral morphology |
OMIM:192350 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal rib morphology, Kyphosis, Platyspondyly, Scoliosis |
ORPHA:534 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal rib morphology |
ORPHA:2554 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal rib morphology |
ORPHA:667 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Malabsorption, Hepatomegaly, Splenomegaly, Cerebral calcification, Cirr... |
ORPHA:1775 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology |
ORPHA:2908 |
Townes-Brocks Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Urethral stricture, Chronic diarrhea |
OMIM:613989 |
Familial Melanoma |
|
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
Hoyeraal-Hreidarsson Syndrome |
|
Failure to thrive |
ORPHA:3322 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Gastroesophageal reflux, Cirrhosis, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemi... |
OMIM:614742 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Epistaxis, Reti... |
ORPHA:88 |
Idiopathic Pulmonary Fibrosis |
|
Gastroesophageal reflux |
ORPHA:2032 |