Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
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Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Redundant neck skin, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis... |
OMIM:617967 |
Wildervanck Syndrome |
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Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Isolated Klippel-Feil Syndrome |
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Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Congenital Herpes Simplex Virus Infection |
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Hydranencephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:293 |
Deafness, Autosomal Dominant 87 |
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Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 85 |
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Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Redundant neck skin, Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brains... |
OMIM:236500 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Anencephaly 2 |
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Anencephaly, Bifid nose |
OMIM:619452 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Diprosopus |
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Anencephaly, Abnormality of the nose |
ORPHA:1681 |
Hydrolethalus Syndrome 2 |
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Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Microhydranencephaly |
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Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrane... |
OMIM:605013 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal d... |
ORPHA:1908 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Underdeveloped nasal alae, Microcephaly |
OMIM:601355 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Deafness, X-Linked 6 |
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Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Meckel Syndrome, Type 4 |
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Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Anencephaly, Spina bifida |
ORPHA:2476 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... |
ORPHA:2570 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Schisis Association |
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Encephalocele, Anencephaly, Spina bifida, Microcephaly |
ORPHA:63862 |
Waardenburg Syndrome, Type 2E |
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Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Distal Deletion 13Q |
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Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... |
ORPHA:1590 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Ab... |
ORPHA:268882 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Meckel Syndrome, Type 10 |
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Occipital encephalocele, Frontal bossing, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malfor... |
OMIM:614175 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... |
ORPHA:66637 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:603194 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Hydrolethalus |
|
Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis... |
ORPHA:2189 |
Genitourinary And/Or Brain Malformation Syndrome |
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Aplasia of the nasal bone, Absent septum pellucidum, Acrania, Dysplastic corpus callosum, Colpoce... |
OMIM:618820 |
Lamb-Shaffer Syndrome |
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Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Facial diplegia, Hammertoe, Distal arthrogryposis, Periphe... |
OMIM:616287 |
Kniest Dysplasia |
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Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Atelosteogenesis, Type I |
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Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... |
OMIM:108720 |
Burning Mouth Syndrome |
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Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Encephalocele, Choanal atresia, Microcephaly, Anencephaly, Brachycephaly, Wide nasal bridge, Trig... |
OMIM:619148 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ... |
ORPHA:2522 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... |
ORPHA:3320 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Holoprosencephaly 5 |
|
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Microcephaly... |
OMIM:609637 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxi... |
OMIM:618000 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Congenital Vertical Talus |
|
Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Myelomeningocele, Achil... |
ORPHA:178382 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... |
ORPHA:648 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningoce... |
ORPHA:1393 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... |
ORPHA:63259 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica... |
ORPHA:221098 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Abnormality of the ear |
OMIM:600776 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... |
ORPHA:508498 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Trisomy 18 |
|
Choanal atresia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:3380 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Facial palsy, Sandal ga... |
OMIM:607323 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of t... |
OMIM:616546 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... |
OMIM:118100 |
Apert Syndrome |
|
Frontal bossing, Cloverleaf skull, Sensorineural hearing impairment, Hydrocephalus, Abnormal semi... |
ORPHA:87 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... |
ORPHA:1826 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Sacral dimple, Vertebral fusion, Vertebral segmentation defect, Short long bone |
OMIM:618845 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of... |
ORPHA:3265 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Allergic rhinitis, Facial erythema |
OMIM:603165 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of the 5th finger, Short p... |
OMIM:274000 |
Verheij Syndrome |
|
Branchial cyst, Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae... |
OMIM:615583 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Familial Focal Epilepsy With Variable Foci |
|
Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly |
ORPHA:98820 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Plagiocephaly, Hypoplasia of the semicircular canal, Low-set ears, Enl... |
ORPHA:251061 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Intrauterine growth retardation |
OMIM:269860 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Midline defect of ... |
OMIM:236680 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Ring Chromosome 13 Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Anencephaly, Wide nasal ... |
ORPHA:96176 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Intrauterine growth retardation |
ORPHA:887 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Abnormal cortical gyration, Pachygyria, Depressed nasal ridge, Exenc... |
ORPHA:2211 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Holoprosencephaly, Scoliosis, Thoracic hemivert... |
ORPHA:1445 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... |
ORPHA:2369 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... |
OMIM:617159 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Broad distal hallux, Sagittal craniosynostosis, Limited elbow move... |
OMIM:101200 |
Bilateral Polymicrogyria |
|
Facial diplegia, Arthrogryposis multiplex congenita, Abnormal glossopharyngeal nerve morphology |
ORPHA:268940 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor, Cerebral cortical atrophy |
OMIM:606353 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor |
ORPHA:163596 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Tick-Borne Encephalitis |
|
Back pain, Stiff neck, Facial palsy, Abnormal glossopharyngeal nerve morphology, Limb pain, Polyn... |
ORPHA:297 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
Neu-Laxova Syndrome 1 |
|
Wide nose, Spina bifida, Depressed nasal ridge, Stillbirth, Lissencephaly, Short umbilical cord, ... |
OMIM:256520 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Abnormal bone o... |
ORPHA:93315 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... |
OMIM:113650 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis |
OMIM:119580 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... |
ORPHA:377 |
Kcnq2-Related Epileptic Encephalopathy |
|
Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral white m... |
ORPHA:439218 |
Meckel Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Depressed nasal ridge, Aplasia/Hypoplasi... |
ORPHA:564 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Optic atrophy, Punctate vertebral cal... |
ORPHA:1914 |
Cousin Syndrome |
|
Hydranencephaly, Frontal bossing, Hydrocephalus |
OMIM:260660 |
Charge Syndrome |
|
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... |
OMIM:214800 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Microcephaly, Large placenta, Hydrocephalus, Anencephaly, Cerebral hypop... |
OMIM:249000 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Camptodactyly |
OMIM:211960 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Small hand, Short foot, ... |
ORPHA:915 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation ... |
ORPHA:1756 |
Spontaneous Periodic Hypothermia |
|
Pallor, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:29822 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly |
ORPHA:945 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy, Brachydactyly |
OMIM:616368 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Campt... |
ORPHA:90652 |
Cyclic Vomiting Syndrome |
|
Pallor, Microcephaly |
OMIM:500007 |
Distal Deletion 10Q |
|
Frontal bossing, Craniosynostosis, Congenital sensorineural hearing impairment, Spina bifida occu... |
ORPHA:96148 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Abnormal cerebral white matter morphology, Microcephaly, Pallor, Death in childhood |
OMIM:246450 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Short metatarsa... |
OMIM:617137 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida, Limitation of joint mobility, Osteoporosis, Optic atrophy, Decrea... |
ORPHA:99742 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Fumarase Deficiency |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Hypopl... |
OMIM:606812 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... |
OMIM:109400 |
Evans Syndrome |
|
Pallor, Epistaxis, Petechiae |
ORPHA:1959 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... |
ORPHA:2876 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... |
OMIM:272460 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Secondary microcephaly, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:613839 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... |
OMIM:157800 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Sacral dimple, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bifid... |
ORPHA:1327 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scolios... |
ORPHA:88628 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Tapered hu... |
OMIM:150250 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Sclerosis of skull base, Scol... |
OMIM:130720 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Leishmaniasis |
|
Rhinitis, Pallor, Skin ulcer |
ORPHA:507 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Depressed nasal ridge, Pallor, Microcephaly |
OMIM:600462 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ... |
ORPHA:959 |
Dravet Syndrome |
|
Pallor, Global brain atrophy |
ORPHA:33069 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Tapered f... |
OMIM:613458 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin... |
ORPHA:2437 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Rheumatic Fever |
|
Epistaxis, Recurrent pharyngitis, Erythema, Hemiballismus, Pallor |
ORPHA:3099 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Broad thumb |
ORPHA:60015 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Proximal placement of thumb, Missing ribs, Optic disc coloboma, Op... |
OMIM:304050 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... |
ORPHA:3027 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Kyphosi... |
ORPHA:3219 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Vertebral segmentation defect, Spina bifida |
ORPHA:1104 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Alg3-Cdg |
|
Neural tube defect, Abnormal pinna morphology, Hearing impairment |
ORPHA:79321 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Hemivertebrae, Rib f... |
OMIM:206900 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc... |
OMIM:609136 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... |
ORPHA:261318 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Patellar aplasia, Antecu... |
OMIM:161200 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Chromosome 17P13.1 Deletion Syndrome |
|
Joint laxity, Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short nec... |
OMIM:613776 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Short nasal bridge, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypop... |
OMIM:253280 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:83617 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... |
ORPHA:444077 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominen... |
OMIM:618500 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Optic disc coloboma, Optic atrophy, Rib fusion, Small hand, Hip dy... |
ORPHA:50 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... |
OMIM:600145 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Elsahy-Waters Syndrome |
|
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased cup-to-disc ratio,... |
OMIM:211380 |
Waardenburg Syndrome Type 1 |
|
Scoliosis, Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... |
ORPHA:168563 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Aqueductal stenosis, Abnormality of... |
ORPHA:138 |
Joubert Syndrome 14 |
|
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Optic atrophy |
OMIM:614424 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Hip dysplasi... |
OMIM:610443 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Small cervical vertebral bodies, Abnormal acetabulum morphology, Brachyd... |
ORPHA:397715 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Short neck, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of the v... |
ORPHA:2789 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Dominant Beta-Thalassemia |
|
Frontal bossing, Depressed nasal bridge, Pallor, Skin ulcer |
ORPHA:231226 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... |
OMIM:213980 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... |
ORPHA:268810 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Triploidy |
|
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Holoprosencephaly, Decreased skull oss... |
ORPHA:3376 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Hereditary Folate Malabsorption |
|
Cerebral calcification, Pallor |
ORPHA:90045 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Diamond-Blackfan Anemia 1 |
|
Microcephaly, Parietal foramina, Depressed nasal ridge, Pallor, Intrauterine growth retardation, ... |
OMIM:105650 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Short toe... |
OMIM:139210 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Beta-Thalassemia Major |
|
Frontal bossing, Depressed nasal bridge, Pallor, Skin ulcer |
ORPHA:231214 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Vertebral fusion, Congenital hip dislocation, Finger syndactyly, Camptodactyly ... |
ORPHA:373 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Meningocele, Optic atrophy, Abnormal rib morphology |
ORPHA:991 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Short neck, Aplasia of the ulna, Abnormal tibia morpholo... |
ORPHA:2879 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Pallor, Chronic rhinitis, Craniosynostosis |
ORPHA:667 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Agenesis of corpus callosum, Pallor |
ORPHA:137675 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Rocker bottom foot, Limitat... |
ORPHA:99776 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Pallor |
ORPHA:331206 |
Waldenström Macroglobulinemia |
|
Pallor, Epistaxis, Purpura |
ORPHA:33226 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Hip dislocation |
ORPHA:2003 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Scoliosis |
OMIM:616038 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Leukoencephalopathy, Microcephaly |
ORPHA:20 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... |
OMIM:276820 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... |
OMIM:194190 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Spina bifida, Hyperlordosis, Metaphyseal widening, Optic disc coloboma, Thin ribs,... |
OMIM:234100 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele |
ORPHA:2481 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius... |
ORPHA:3412 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Hemivertebrae, Hip dislocation, Abnorm... |
ORPHA:93929 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Preaxial foot polydactyly, Aplasia/Hypoplasia of... |
ORPHA:1827 |
Degcags Syndrome |
|
Anteverted nares, Prominent nasal bridge, Craniosynostosis, Microcephaly, Prominent nose, Plagioc... |
OMIM:619488 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Tibial pseudarthrosis, Genu valgu... |
OMIM:162200 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... |
OMIM:227330 |
Fanconi Anemia, Complementation Group D2 |
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Anemic pallor, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus... |
OMIM:227646 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Pallor |
ORPHA:276621 |
Pituitary Apoplexy |
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Abnormal caudate nucleus morphology, Pallor |
ORPHA:95613 |
Focal Dermal Hypoplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Split hand, Split foot,... |
ORPHA:2092 |
Hereditary Spherocytosis |
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Pallor, Skin ulcer |
ORPHA:822 |
Beta-Ketothiolase Deficiency |
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Pallor |
ORPHA:134 |
Phakomatosis Pigmentokeratotica |
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Hypophosphatemic rickets, Scoliosis, Pheochromocytoma, Spina bifida |
ORPHA:2874 |
Non-Functioning Pituitary Adenoma |
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Pallor |
ORPHA:91349 |
Split Cord Malformation |
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Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
Pearson Marrow-Pancreas Syndrome |
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Erythema, Pallor, Death in childhood |
OMIM:557000 |
Orofaciodigital Syndrome Vi |
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11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Imerslund-Gräsbeck Syndrome |
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Pallor |
ORPHA:35858 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Pallor |
ORPHA:300298 |
Adenohypophysitis |
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Pallor |
ORPHA:95512 |
Robinow Syndrome |
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Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
Incontinentia Pigmenti |
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Erythema, Pallor, Microcephaly |
OMIM:308300 |
Panhypophysitis |
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Pallor |
ORPHA:95513 |
Aregenerative Anemia |
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Pallor |
ORPHA:101096 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Clinodactyly of the 5th finger, Meningocele |
ORPHA:2031 |
Sheehan Syndrome |
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Dry skin, Pallor |
ORPHA:91355 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Supernumerary ribs, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Pallor |
OMIM:194380 |
Hereditary Pheochromocytoma-Paraganglioma |
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Pallor |
ORPHA:29072 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Pallor |
ORPHA:98849 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Spina bifida, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Ar... |
ORPHA:2671 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Pallor |
OMIM:300908 |
Prolactinoma |
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Pallor |
ORPHA:2965 |
Jacobsen Syndrome |
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Death in infancy, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short ne... |
ORPHA:2308 |
Distal Renal Tubular Acidosis |
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Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Pallor |
OMIM:616959 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... |
OMIM:306955 |
Refractory Anemia With Excess Blasts |
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Anemic pallor |
ORPHA:86839 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Joint dislocation, Joint laxity, Sacral dimple, Prominent fingertip pads, Arachnodactyly, Anomaly... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Joint dislocation, Joint laxity, Sacral dimple, Prominent fingertip pads, Arachnodactyly, Anomaly... |
ORPHA:363958 |
Diamond-Blackfan Anemia |
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Pallor, Depressed nasal bridge, Wide nasal bridge, Microcephaly |
ORPHA:124 |
Esophageal Atresia |
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Pallor, Choanal atresia |
ORPHA:1199 |
Alternating Hemiplegia Of Childhood |
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Pallor |
ORPHA:2131 |
Lathosterolosis |
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Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Postaxial hand polyd... |
ORPHA:46059 |
Schinzel-Giedion Syndrome |
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Sacrococcygeal teratoma, Overlapping fingers, Aganglionic megacolon, Overlapping toe, Kyphoscolio... |
ORPHA:798 |
Fanconi Anemia, Complementation Group C |
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Intrauterine growth retardation, Anemic pallor, Microcephaly |
OMIM:227645 |
Vater/Vacterl Association |
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Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Rubinstein-Taybi Syndrome 1 |
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Flexion contracture, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly of the 5th fi... |
OMIM:180849 |
Fanconi Anemia, Complementation Group E |
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Anemic pallor, Microcephaly |
OMIM:600901 |
Fanconi Anemia |
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Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Aganglionic megacolon, Abnormal morpho... |
ORPHA:84 |
Fanconi Anemia, Complementation Group A |
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Anemic pallor, Microcephaly |
OMIM:227650 |
22Q11.2 Deletion Syndrome |
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Aganglionic megacolon, Arachnodactyly, Spina bifida, Short neck, Hydrocephalus, Meningocele, Opti... |
ORPHA:567 |
Idiopathic Hypereosinophilic Syndrome |
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Pallor |
ORPHA:3260 |
Marfan Syndrome |
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Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... |
ORPHA:558 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Unilateral facial palsy, Scoliosis, Spina bifida, Tapered finger |
OMIM:619480 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemic pallor |
ORPHA:329971 |
Tsh-Secreting Pituitary Adenoma |
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Pallor |
ORPHA:91347 |
Knobloch Syndrome 1 |
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Occipital encephalocele, Optic disc pallor, Peripapillary atrophy, Occipital meningocele, Spina b... |
OMIM:267750 |
Infection-Related Hemolytic Uremic Syndrome |
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Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor |
ORPHA:653 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Arima Syndrome |
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Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Optic atrophy |
OMIM:243910 |
Von Hippel-Lindau Disease |
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Pallor |
ORPHA:892 |
Semilobar Holoprosencephaly |
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Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Sensorineural hearing impairment, Hydrocephalus, Proboscis |
ORPHA:93924 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Flexion contracture of finger, Meningocele |
ORPHA:1010 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Hydrocephalus, Partial duplication of thumb phalanx, He... |
OMIM:164210 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Goodpasture Syndrome |
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Pallor |
OMIM:233450 |
Exstrophy-Epispadias Complex |
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Abnormal joint morphology, Hydrocephalus, Spina bifida |
ORPHA:322 |
Congenital Total Pulmonary Venous Return Anomaly |
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Pallor |
ORPHA:99125 |