Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... |
OMIM:146110 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... |
OMIM:609813 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Hypogonadotropic hypogonadism, Hypergo... |
OMIM:604168 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Az... |
OMIM:235200 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Cerebral atrophy, Leukoencephalopathy, Axonal loss,... |
OMIM:221770 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Myotonic Dystrophy 1 |
|
Cerebral atrophy, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Ab... |
OMIM:610628 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Testicular atrophy, Intestinal malrotation |
OMIM:601163 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... |
OMIM:614858 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Azoospermia, Hypergonadotropic hypogonadism, Leukoencephalopathy |
OMIM:613724 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cerebral calcification, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy,... |
OMIM:613987 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, High palate, Small pi... |
OMIM:612702 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Gonadal dysgenesis, Hypergonadotropic hyp... |
OMIM:607080 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Cleft palate, Bifid nose, Hyposmia, Micropenis, Decreased... |
OMIM:614838 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hypogonadotropic hypogonadism |
OMIM:615266 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Axonal loss, Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of t... |
OMIM:617672 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... |
OMIM:606483 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Delayed CNS myelination, Prominent nasal bridge, Reduced cerebral white matter volume, Prominent ... |
OMIM:620317 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,... |
OMIM:222300 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Cleft palate, Primary am... |
OMIM:147950 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral... |
OMIM:618165 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... |
OMIM:118200 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... |
OMIM:614897 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
OMIM:614895 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Dec... |
OMIM:614880 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... |
OMIM:614837 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... |
OMIM:180800 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Corpus callosum atrophy, Diffuse leukoencephalopathy, Impoten... |
OMIM:169500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Hypoplasi... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism, Cleft palate |
OMIM:612370 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Abnormal periventricular white matter morphology, Peripheral demyelination, Dy... |
OMIM:249900 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Gray matter heterotopia, Col... |
OMIM:619101 |
Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Patent ductus arteriosus, Hypogonadism, Hypoplasia of the corpus cal... |
OMIM:615996 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... |
OMIM:616030 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, CNS demyelin... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala... |
ORPHA:1135 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Short-segment aganglionic megacolon, Cerebral dysmyelination, Portal hyper... |
OMIM:609136 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Abnormality of female external genitali... |
ORPHA:168563 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Leukocytosis, Axonal loss, Di... |
ORPHA:206594 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypt... |
OMIM:305400 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Cleft palate, Hyposmi... |
OMIM:244200 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Impaired oropharyngeal swallow response, Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Facial palsy,... |
OMIM:601596 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Hydrolethalus |
|
Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly... |
ORPHA:2189 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... |
ORPHA:101097 |
Gorlin Syndrome |
|
Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal ... |
ORPHA:377 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration, Dysphagia |
OMIM:607736 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601098 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy,... |
OMIM:312080 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... |
OMIM:618841 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Peroxisome Biogenesis Disorder 8B |
|
Corpus callosum atrophy, Optic atrophy, Abnormal cerebral white matter morphology, Leukodystrophy... |
OMIM:614877 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Hypoplasia of penis, Anterior pituitary hypoplasia, Optic nerve hypoplasia... |
ORPHA:3157 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Hypoplasia of the corpus callosum |
OMIM:615035 |
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 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:2635 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum |
ORPHA:2386 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis |
OMIM:259440 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Cerebral calcification, 4-layered lissencephaly, Primary microcephaly, Wide nasal brid... |
ORPHA:89844 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... |
OMIM:607706 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Segmental peripheral demyelination/remyelination |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Peripheral demyelination |
OMIM:618279 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum |
OMIM:613162 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Abnormality of the sense of smell, ... |
ORPHA:399 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Secondary amenorrh... |
OMIM:157640 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... |
OMIM:609260 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Delayed myelination, Cerebral white matter atrophy |
ORPHA:599373 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia, Delayed puberty |
OMIM:615271 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:604563 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Pachygyria, Dysplastic corpus callos... |
ORPHA:171680 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... |
ORPHA:217260 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Anteverted nares, Splenomegaly, Hydrocephalus, Cerebral atrophy, CNS demyelination,... |
OMIM:272200 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... |
OMIM:616113 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy |
ORPHA:99953 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Motor axonal neuropathy, Microcephaly |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... |
OMIM:605588 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Mic... |
ORPHA:251066 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Peripheral demyelination |
OMIM:205400 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Absence of pubertal development |
OMIM:615267 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Delayed puberty |
OMIM:615270 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation |
OMIM:618184 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination, Oral-pharyngeal dysphagia |
OMIM:616287 |
Adult Krabbe Disease |
|
Abnormal pyramidal tract morphology, Abnormal corticospinal tract morphology, Erectile dysfunctio... |
ORPHA:206448 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
Poland Syndrome |
|
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly |
OMIM:173800 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Abetalipoproteinemia |
|
CNS demyelination, Fat malabsorption, Peripheral demyelination, Acanthocytosis |
OMIM:200100 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... |
OMIM:605285 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Peripheral axonal neuropathy, Small intestinal dysmoti... |
ORPHA:298 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal... |
OMIM:604360 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Lissencephaly, X-Linked, 2 |
|
Prominent nasal bridge, Wide nasal bridge, High palate, Lissencephaly, Gliosis, Ambiguous genital... |
OMIM:300215 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Vomiting, Dysphagia |
OMIM:300322 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination |
OMIM:611228 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Onion bulb formation, High palate, Facial palsy |
OMIM:607684 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Dysplastic corpus callosum, Hypospadias, Anemia |
OMIM:620135 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Megalencephaly, Cryptorchidism, Bulbous no... |
ORPHA:3063 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Microcephaly, Bulbous nose, Anosmia, Cleft palate, Hypogonadism |
ORPHA:2316 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Nasal polyposis, Asplenia, Absent outer dynein arm... |
OMIM:244400 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Diffuse white matter abnormalitie... |
OMIM:218000 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Primary amenorrhea... |
OMIM:619737 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Hypoplasia of the odontoid pro... |
OMIM:156530 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Thin corpus callosum, Axonal loss, Glio... |
OMIM:252160 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Abnormal testis morphology |
ORPHA:100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Periphe... |
OMIM:600882 |
Holoprosencephaly |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Panhypopituitarism, Absent... |
ORPHA:2162 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Achalasia, Optic atrophy, Peripheral demyelination |
OMIM:609033 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Hypoplas... |
OMIM:614842 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, High palate, Primary microcephaly |
OMIM:618010 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... |
ORPHA:284160 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... |
OMIM:614839 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Hypergonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Opt... |
OMIM:271245 |
Mucolipidosis Iv |
|
Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, H... |
OMIM:252650 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination, Hypoplasia of the corpus callosum, Short nose, Pachygyr... |
OMIM:260565 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Midgut m... |
ORPHA:2326 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Flaring ... |
ORPHA:168549 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... |
ORPHA:1295 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... |
OMIM:617053 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest |
ORPHA:93267 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Anteverted nares, Dysplastic corpus callosum, Wide na... |
OMIM:618810 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia, Delayed puberty |
OMIM:274190 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... |
ORPHA:2311 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... |
OMIM:302800 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Microcephaly, Cryptorchidism, Patent d... |
ORPHA:452 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Microcephaly, High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell... |
ORPHA:3201 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Gallbladder dysfunction, Abnormal cerebral white matter morphology, Cholecystitis,... |
OMIM:250100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Microcephaly, Cerebral atrophy, Axonal loss, Gliosis, Hypoplasia of the corpus callosum, Short no... |
OMIM:252150 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Myelin outfoldings, Onion bulb formation, Microcephaly |
OMIM:615284 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia, Optic atrophy, Facial palsy |
OMIM:144755 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601455 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cerebral at... |
OMIM:607250 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Bardet-Biedl Syndrome 17 |
|
Hyposmia, Micropenis, Hypogonadism, Anosmia |
OMIM:615994 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Kleine-Levin Syndrome |
|
Decreased libido, Parosmia |
ORPHA:33543 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... |
OMIM:609616 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Si... |
ORPHA:2250 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Depressed nasal bridge, Focal polymicrogyria, Microcephaly, Cryptorchidism, Bulbous ... |
OMIM:619103 |
Autosomal Spastic Paraplegia Type 58 |
|
Abnormal cerebral white matter morphology, Peripheral demyelination, Cerebral atrophy, Microcephaly |
ORPHA:397946 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormal fifth cranial nerve morphology, Cleft palate, Abnormality of the sense ... |
ORPHA:91412 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Cerebral atro... |
OMIM:616900 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:93298 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1836 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Severe demyelination of the white matter, Microcephaly, Jaundice, Hydroceph... |
ORPHA:79282 |
Even-Plus Syndrome |
|
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, High palate, Short nose, Agen... |
OMIM:616854 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Patent duc... |
ORPHA:2328 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607831 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Abnormal cranial nerve morphology |
ORPHA:2057 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... |
OMIM:619698 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Simplified gy... |
OMIM:620001 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed CNS myelination, Supernumerary nipple, Microcephaly, Cryptorchidism, Anteriorly placed an... |
OMIM:618653 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral white matter atrophy, Delayed peripheral myelination, Microcephaly, Puberty and gonadal ... |
ORPHA:464282 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic disc pallor, Anosmia, Optic atrophy, Axonal degeneration/regeneration |
OMIM:601152 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... |
ORPHA:2021 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Facial palsy, Cleft palate, Abno... |
ORPHA:570 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge, Frontalis muscle weakness |
OMIM:210745 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... |
OMIM:618395 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs |
ORPHA:2759 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Holoprosencephaly, Micropenis, Agenesis of corpus callo... |
OMIM:618820 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Gastroesophage... |
ORPHA:2524 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmentation defect, S... |
ORPHA:1988 |
Cockayne Syndrome A |
|
Slender nose, Hepatomegaly, Abnormal peripheral myelination, Prominent nose, Microcephaly, Crypto... |
OMIM:216400 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, C... |
OMIM:619955 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio... |
OMIM:256850 |
Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Delayed myelination, Symmetrical progressive peripheral demyelinatio... |
OMIM:231670 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... |
ORPHA:392 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis |
OMIM:619718 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... |
OMIM:614833 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Uterus didelphys, Abnormality of the... |
ORPHA:958 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Lewy bodies, Substantia nigra gliosis |
OMIM:607060 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypospadias, Anteverted nares, Microcephaly, Microvesicular hepatic steatosis, Partial agenesis o... |
OMIM:220111 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Cryptorchidism, Anosmia, Lacrimal gland hypoplasia, Hypogonadism |
OMIM:613266 |
Refsum Disease |
|
Splenomegaly, Anosmia |
ORPHA:773 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Oral-pharyn... |
ORPHA:254930 |
Cockayne Syndrome B |
|
Slender nose, Hepatomegaly, Abnormal peripheral myelination, Prominent nasal bridge, Microcephaly... |
OMIM:133540 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:628 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Abnormal cerebral white matter morphology |
OMIM:608703 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... |
ORPHA:582 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, High, narrow palate, High palate, Leukodystrophy, Micropenis, Hepatic steatosis, H... |
OMIM:619475 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Supernumerary nipple, Delayed p... |
OMIM:605039 |
Lig4 Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
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 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Thrombocytopenia, A... |
OMIM:277900 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Corpus callosum atrophy, Optic atrophy, Eye of the tiger anomaly of globus pallidus, Hypoplasia o... |
ORPHA:171629 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
Leukodystrophy, Hypomyelinating, 5 |
|
Cerebral white matter atrophy, Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Cryptorchidism, Anosmia, Cleft palat... |
OMIM:603457 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Broad cla... |
OMIM:200600 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:99948 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified g... |
OMIM:619179 |
Charge Syndrome |
|
Bifid scrotum, Aqueductal stenosis, Gastroesophageal reflux, Holoprosencephaly, Micropenis, Hypog... |
ORPHA:138 |
Kufor-Rakeb Syndrome |
|
Hyposmia, Anosmia, Dysphagia |
OMIM:606693 |
Young-Onset Parkinson Disease |
|
Hyposmia, Female sexual dysfunction, Male sexual dysfunction |
ORPHA:2828 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Long nose, Dysplastic corpus callosu... |
ORPHA:363444 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Male pseudohermaphroditism, Cleft palate, Abnormality of the sense of sme... |
ORPHA:140 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis |
ORPHA:2319 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Bilateral cryptorchidism, Celiac disease, Bulbous nose, Dysplastic corpus callosum, Periventricul... |
ORPHA:544488 |
Neuropathy, Hereditary Sensory, Type Ie |
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Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy |
OMIM:614116 |
Leopard Syndrome 1 |
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Hypospadias, Delayed menarche, Cryptorchidism, Depressed nasal ridge, Cleft palate, Hypoplasia of... |
OMIM:151100 |
Hereditary Late-Onset Parkinson Disease |
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Gliosis, Dysphagia, Hyposmia, Lewy bodies, Cerebral cortical atrophy |
ORPHA:411602 |
Indifference To Pain, Congenital, Autosomal Recessive |
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Hyposmia, Anosmia |
OMIM:243000 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Pectus carinatum, Kyphosis, Abnormal rib morphology, Short neck |
ORPHA:3082 |
Icf Syndrome |
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Abnormality of chromosome stability |
ORPHA:2268 |
Cerebrofacioarticular Syndrome |
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Anal stenosis, Hypospadias, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus c... |
ORPHA:314679 |
Fanconi Anemia, Complementation Group P |
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Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Hepatomegaly, Prominent nasal bridge, Anisocytosis, Microcephaly, Dysplastic corpus callosum |
OMIM:604273 |
Cooper-Jabs Syndrome |
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Abnormal rib morphology, Scoliosis, Missing ribs |
ORPHA:1488 |
Autosomal Recessive Cutis Laxa Type 2A |
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Thick cerebral cortex, Prominent nasal bridge, Dysplastic corpus callosum, Prominent nasolabial f... |
ORPHA:357058 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Facial palsy, Abnormal basal ganglia morphology, Abnormal cerebral white mat... |
ORPHA:68 |
Fanconi Anemia, Complementation Group N |
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Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Spastic Ataxia 5, Autosomal Recessive |
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Onion bulb formation, Dysphagia |
OMIM:614487 |
Bloom Syndrome |
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Cryptorchidism, Abnormality of chromosome stability, Azoospermia, Chromosome breakage |
OMIM:210900 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hepatomegaly, Delayed CNS myelination, Dysplastic corpus callosum, Cholestasis, Cleft palate, Leu... |
OMIM:614924 |
Oculoskeletodental Syndrome |
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Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Focal wh... |
ORPHA:557003 |
Refsum Disease, Classic |
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Anosmia |
OMIM:266500 |
Fanconi Anemia, Complementation Group R |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Hypophosphatasia |
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Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Gracile Bone Dysplasia |
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Asplenia, Hydrocephalus, Hypoplastic spleen, Micropenis, Ankyloglossia |
OMIM:602361 |
Fanconi Anemia, Complementation Group I |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Melnick-Needles Syndrome |
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Short thorax, Abnormal rib morphology, Narrow chest, Scoliosis, Short clavicles, Anisospondyly |
ORPHA:2484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Superficial Siderosis |
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Partial anosmia, Anosmia, Abnormality of the vestibulocochlear nerve, Dysgyria, Abnormal corpus c... |
ORPHA:247245 |
Bone Marrow Failure Syndrome 3 |
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Cryptorchidism, Chromosome breakage |
OMIM:617052 |
Cole-Carpenter Syndrome |
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Kyphosis, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Axial Mesodermal Dysplasia Spectrum |
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Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... |
ORPHA:1834 |
Prune Belly Syndrome |
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Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis |
ORPHA:2970 |
Charge Syndrome |
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Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Osteogenesis Imperfecta, Type Xviii |
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Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs |
OMIM:617952 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatomegaly, Segmental peripheral demyelination/remyelination, Optic atrophy, Dysphagia, Focal T... |
ORPHA:255210 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Hepatomegaly, Dysplastic corpus callosum, Hypochromic microcytic anemia, CNS hypomyelination, Sec... |
OMIM:619423 |
Renpenning Syndrome |
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Pectus excavatum, Sprengel anomaly, Abnormal rib morphology |
ORPHA:3242 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormal rib morphology |
ORPHA:2772 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Fanconi Anemia, Complementation Group B |
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Abnormality of chromosome stability |
OMIM:300514 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy, Abnormal peripheral myelination, Microcephaly, Abnormal cerebral white matter mor... |
ORPHA:466768 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Stormorken Syndrome |
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Howell-Jolly bodies, Epistaxis, Prominent nose, Asplenia, Thrombocytopenia, Hypoplastic spleen, A... |
OMIM:185070 |
Phaver Syndrome |
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Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies |
ORPHA:2876 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hypospadias, Anterior pituitary hypoplasia, Choanal atresia, Microcephaly, Cryptorchidism, Dyspla... |
OMIM:151050 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:600901 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
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Hyposmia, Gastrointestinal dysmotility |
OMIM:616488 |
Occipital Horn Syndrome |
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Cerebral calcification, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Abn... |
ORPHA:198 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Pectus carinatum, Abnormal rib morphology, Hyperlordosis |
ORPHA:3068 |
Microphthalmia, Syndromic 9 |
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Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Multilobulated spleen, Hypoplasia of... |
OMIM:601186 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration |
ORPHA:90103 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:227650 |
Neuromuscular Oculoauditory Syndrome |
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Agenesis of corpus callosum, Periventricular heterotopia, Sensory axonal neuropathy, Peripheral h... |
OMIM:618733 |
Developmental And Epileptic Encephalopathy 49 |
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Cerebral calcification, Prominent nose, Microcephaly, Basal ganglia calcification, Hydrocephalus,... |
OMIM:617281 |
Craniosynostosis, Herrmann-Opitz Type |
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Abnormal rib morphology |
ORPHA:2145 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... |
OMIM:208920 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Adenomatous colonic polyposi... |
OMIM:276300 |
Fanconi Anemia, Complementation Group L |
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Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Optic neuropathy, Optic atrophy, Hypoplasia of the corpus callosum, Focal white matter lesions, O... |
ORPHA:320375 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... |
OMIM:270550 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:227645 |
Fanconi Anemia, Complementation Group F |
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Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Holzgreve Syndrome |
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Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
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Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy |
OMIM:162400 |
Trisomy 13 |
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Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis |
ORPHA:3378 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Campomelia, Cumming Type |
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Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Microvesicular hepatic stea... |
OMIM:256810 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
East Syndrome |
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Peripheral axonal neuropathy, Hyperaldosteronism, Peripheral hypomyelination, Increased circulati... |
ORPHA:199343 |
Poland Syndrome |
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Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Abnormal ri... |
ORPHA:2911 |
Alagille Syndrome |
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Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... |
ORPHA:52 |
Revesz Syndrome |
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Abnormality of chromosome stability |
OMIM:268130 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Decreased number of peripheral myelinated nerve fibers, Gastroesophageal reflux |
OMIM:201300 |
Melanoma, Cutaneous Malignant, Susceptibility To, 9 |
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Melanoma |
OMIM:615134 |
Lacrimoauriculodentodigital Syndrome |
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Choanal atresia, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Anosmia, Bicornuate uterus... |
ORPHA:2363 |
Waardenburg Syndrome, Type 2E |
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Cerebral hypomyelination, Anosmia |
OMIM:611584 |
Cleidocranial Dysplasia |
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Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... |
ORPHA:1452 |
Cartilage-Hair Hypoplasia |
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Abnormality of chromosome stability |
ORPHA:175 |
Charcot-Marie-Tooth Disease Type 1F |
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Tongue atrophy, Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neu... |
ORPHA:101085 |
Tetraamelia-Multiple Malformations Syndrome |
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Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Pyknoachondrogenesis |
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Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Unossified sacrum, Horizont... |
ORPHA:3003 |
Fanconi Anemia, Complementation Group D2 |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:227646 |
Cenani-Lenz Syndrome |
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Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3258 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Narrow nasal bridge, Prominent nose, Cryptorchidism, High, narrow palate, Patent ductus arteriosu... |
OMIM:300967 |
Zttk Syndrome |
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Absent gallbladder, Depressed nasal bridge, Dysplastic corpus callosum, Patent ductus arteriosus,... |
OMIM:617140 |
Mosaic Trisomy 8 |
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Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis |
ORPHA:96061 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... |
ORPHA:95494 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Wide nose |
ORPHA:477817 |
Radio-Renal Syndrome |
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Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, Microcephaly, ... |
ORPHA:364577 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Narrow nasal bridge, Anterior pituitary hypoplasia, Supernumerary nipple, Prominent nose, Bilater... |
ORPHA:466791 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Cryptorchidism, Azoospermia, Abnormal testis morphology, Abs... |
ORPHA:84 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, High, narrow palate, Cortical dysplasia, H... |
OMIM:613406 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Hypoplasia of the corpus callosum, H... |
OMIM:618569 |
Vacterl/Vater Association |
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Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... |
ORPHA:887 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
White-Kernohan Syndrome |
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Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Bifid uvula, Abs... |
ORPHA:500150 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis |
ORPHA:2215 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios... |
ORPHA:93473 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability |
ORPHA:647 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:83 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Tongue atrophy, Optic atrophy, Facial par... |
ORPHA:99949 |
Trisomy 1Q |
|
Short thorax, Abnormal rib morphology |
ORPHA:261344 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath... |
ORPHA:2388 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Peripheral hypomyelination, Increased circulating renin level, Chronic axonal... |
OMIM:612780 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Shoulder flexion contracture, Short neck, Hyperlordosis, Kyphosis,... |
ORPHA:800 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral column |
ORPHA:77301 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... |
ORPHA:249 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Myelin outfoldings, Tongue atrophy, Optic atrophy |
ORPHA:99956 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal vertebral segmentation and fusion, Abnormal rib morphology, Narrow chest, Scoliosis |
ORPHA:90652 |
Osteogenesis Imperfecta |
|
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Vertebral compression frac... |
ORPHA:666 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Abnormal rib morphology, Short neck |
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 clavicle morphology, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:581 |
Myhre Syndrome |
|
Platyspondyly, Abnormal rib morphology |
ORPHA:2588 |
Monosomy 9P |
|
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck |
ORPHA:261112 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral morpho... |
ORPHA:95699 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... |
ORPHA:373 |
Ulbright-Hodes Syndrome |
|
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... |
ORPHA:3404 |
Smith-Lemli-Opitz Syndrome |
|
Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:818 |
Trisomy 18 |
|
Abnormal rib morphology |
ORPHA:3380 |
Alagille Syndrome 1 |
|
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch |
OMIM:118450 |
Vater/Vacterl Association |
|
Abnormal sternum morphology, Abnormal vertebral morphology, Abnormal rib morphology, Scoliosis |
OMIM:192350 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology |
ORPHA:2907 |
Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Platyspondyly, Abnormal rib morphology, Scoliosis |
ORPHA:534 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Ear-Patella-Short Stature Syndrome |
|
Abnormal rib morphology, Aplastic clavicle |
ORPHA:2554 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Diabetes mellitus, Cerebral calcific... |
ORPHA:1775 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal rib morphology, Narrow chest |
ORPHA:667 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology |
ORPHA:2908 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Townes-Brocks Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
Familial Melanoma |
|
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Chronic diarrhea |
OMIM:613989 |
Hoyeraal-Hreidarsson Syndrome |
|
Failure to thrive |
ORPHA:3322 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... |
OMIM:614742 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... |
ORPHA:88 |
Idiopathic Pulmonary Fibrosis |
|
Gastroesophageal reflux |
ORPHA:2032 |