Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
Acalvaria |
|
Holoprosencephaly, Hypertelorism, Spina bifida, Hydrocephalus, Calvarial skull defect |
ORPHA:945 |
Humero-Radial Synostosis |
|
Meningocele, Tarsal synostosis, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormality of ... |
ORPHA:3265 |
Frontal Encephalocele |
|
Hypertelorism, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebral c... |
ORPHA:1931 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Lobar holoprosencephaly, Trigonocephaly, Holoprosencephaly, Hypotelorism,... |
OMIM:609637 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Adducted thumb, Abnormality of the diencephalon, Holoprosencephaly, Aplasia/Hypo... |
ORPHA:2570 |
Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... |
ORPHA:957 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Distal Monosomy 13Q |
|
Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Abnormal form of ... |
ORPHA:1590 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Double outlet right ventri... |
OMIM:605376 |
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Microcephaly, Multiple joint contractures |
OMIM:306990 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Holoprosencephaly, Short columella, Hypotelorism, Proboscis, Abnormality ... |
OMIM:142945 |
Neural Tube Defects, Susceptibility To |
|
Anencephaly, Myelomeningocele, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral di... |
OMIM:182940 |
Ring Chromosome 21 Syndrome |
|
Narrow palm, Holoprosencephaly, Small hand, Syndactyly, Thoracic hemivertebrae, Spasticity, Scoli... |
ORPHA:1445 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Macrocephaly, Limited elbow extension, Tapered finger |
OMIM:300706 |
Nevus Comedonicus Syndrome |
|
Toe syndactyly, Abnormal foot morphology, Abnormal vertebral morphology, Finger syndactyly, Preax... |
ORPHA:64754 |
Solitary Median Maxillary Central Incisor |
|
Midnasal stenosis, Holoprosencephaly, Decreased response to growth hormone stimulation test, Cycl... |
OMIM:147250 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... |
OMIM:616749 |
Primary Ciliary Dyskinesia |
|
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Situs inv... |
ORPHA:244 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly |
ORPHA:2476 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Microcephaly, Cerebral cortical atrophy, Spasticity |
ORPHA:2523 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Asplenia |
OMIM:618948 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Progressive microcephaly, Irritability, Inability to walk, Cerebral atrophy, Hypop... |
OMIM:616657 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly, Hypertelorism, Proptosis, Cyclopia, Microcephaly |
ORPHA:2165 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Double outlet right ... |
OMIM:306955 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Adducted thumb, Holoprosencephaly, Hemiplegia/hemiparesis, Absent septum pellucidum, Hydrocephalu... |
ORPHA:2182 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Neonatal death, Arthrogryposis multiple... |
OMIM:236500 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
Heterotaxy, Visceral, 5, Autosomal |
|
Duodenal atresia, Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal de... |
OMIM:270100 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... |
OMIM:603546 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618351 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Decreased head circumference, Tapered finger |
OMIM:619033 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Cerebella... |
ORPHA:1528 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Talipes, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Finger syn... |
ORPHA:1908 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Pulmon... |
OMIM:615415 |
Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Carpal synostosis, Short foot, Hydrocephalus, Macroceph... |
ORPHA:53271 |
Distal Monosomy 7Q36 |
|
Optic atrophy, Holoprosencephaly, Symphalangism affecting the phalanges of the hand, Short neck, ... |
ORPHA:1636 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Macrocephaly, Hydrocephalus |
OMIM:617967 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... |
ORPHA:1836 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormal joint morphology, A... |
ORPHA:93351 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Tapered finger, Holoprosencephaly, Short finger, Microcephaly, Short toe, Agenesis of corpus call... |
OMIM:610680 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Holoprosencephaly, Hypotelorism, Frontal bossing, Microcephaly, Anteverte... |
OMIM:612530 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
Hypoglossia With Situs Inversus |
|
High palate, Asplenia, Situs inversus totalis, Microglossia, Polysplenia |
OMIM:612776 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar emi... |
OMIM:211960 |
Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Bowing of the... |
OMIM:611134 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Schisis Association |
|
Spina bifida, Micromelia, Anencephaly, Microcephaly |
ORPHA:63862 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... |
OMIM:186570 |
Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:2633 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal vertebral segmen... |
ORPHA:2345 |
Dextrocardia |
|
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum... |
ORPHA:1666 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Hypotelorism, Proptosis, Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Anencephaly, Postaxial polydactyly |
OMIM:614175 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Annular pancre... |
ORPHA:210122 |
Proximal Symphalangism |
|
Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos... |
ORPHA:3250 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars... |
OMIM:271650 |
Microhydranencephaly |
|
Athetosis, Hydranencephaly, Talipes equinovarus, Spastic tetraplegia, Pachygyria, Hypoplasia of t... |
OMIM:605013 |
Meckel Syndrome, Type 2 |
|
Meningocele, Dandy-Walker malformation, Polydactyly, Anencephaly, Bowing of the long bones, Posta... |
OMIM:603194 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Hypotelorism, Hypertelorism, Narrow nasal ridge, Frontal bossing, Microcephaly... |
OMIM:612940 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Irregular epiphyses, Flattened femoral head, Genu varum, Abnormality of femur ... |
ORPHA:1822 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Abdominal situs inversus, Cleft palate, Asplenia, Atrioventricular can... |
OMIM:619123 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Congenital Vertical Talus |
|
Distal arthrogryposis, Lower extremity joint dislocation, Myelomeningocele, Rocker bottom foot, A... |
ORPHA:178382 |
Microform Holoprosencephaly |
|
Midnasal stenosis, Holoprosencephaly, Short nose, Cyclopia, Hypotelorism, Iris coloboma, Narrow n... |
ORPHA:280200 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... |
ORPHA:2839 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity, Progressive microcephaly |
OMIM:608443 |
Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Microphthalmia, Asplenia, Abn... |
ORPHA:99776 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Aplasia/Hypoplasia involving the nose, Absent nares, Cyclopia, Agenesis of cor... |
ORPHA:990 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... |
OMIM:611377 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... |
OMIM:610017 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Holoprosencephaly, Absent septum pellucidum, Short femur, Scoliosis |
OMIM:601357 |
Holoprosencephaly 2 |
|
Aplasia of the nose, Holoprosencephaly, Hypotelorism, Proboscis, Anterior pituitary agenesis, Mic... |
OMIM:157170 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Goiter, Bronchiectasis, Situs inversus totalis, Right aortic arch |
OMIM:617577 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inertia, Abnormal neuron morphology, Apathy, Bradykinesia, Shuffling gait, Falls, Short... |
ORPHA:412066 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Arrhinencephaly, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnorm... |
ORPHA:1788 |
Hadziselimovic Syndrome |
|
Ventricular septal defect, High palate, Ventricular hypertrophy, Hypotelorism, Anal atresia, Atri... |
OMIM:612946 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, S... |
ORPHA:1106 |
Mesomelia-Synostoses Syndrome |
|
Abnormal foot morphology, Abnormality of the knee, Synostosis of joints, Abnormality of tibia mor... |
ORPHA:2496 |
Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... |
OMIM:185750 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Optic nerve hypoplasia, Craniosynostosis, Absent septum pellucidum, Cerebellar h... |
OMIM:218670 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Abnormality of the metaphysis, Platyspondyly, Kyphosis, Brachydactyly, Macroce... |
ORPHA:93274 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Short distal phalanx of finger, Microcephaly |
OMIM:601355 |
Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Tarsal synostosis, Myelomeningocele, Abnormal vertebral segmentation and fusion,... |
ORPHA:90652 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Schizencephaly, Aggressive behavior, Abnormal corpus callosum morphology, Simplified gyral patter... |
OMIM:604317 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Talipes equinovarus, Holoprosencephaly,... |
ORPHA:63259 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... |
OMIM:617205 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Short nose, Craniosynostosis, Prominent nasal bridge, Proboscis, Hypertelorism, Fr... |
OMIM:605627 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... |
OMIM:178110 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Cleft palate, Submucous cleft ... |
ORPHA:3426 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Hydrocephalus, Flexion c... |
OMIM:225790 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microphthalmia, Hypotelorism, Anal atresia, Atrial septal defect |
ORPHA:3469 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Right aortic arch, Transp... |
OMIM:231060 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Abnormality of bone mineral density, Facial palsy, Finger syndactyly, Spinal dysr... |
ORPHA:1114 |
Cousin Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... |
OMIM:260660 |
6P22 Microdeletion Syndrome |
|
Hypotelorism, Hydrocephalus, Deeply set eye, Patent ductus arteriosus |
ORPHA:251046 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Bowing of the long bones, Proximal placement of thumb... |
ORPHA:90650 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Craniosynostosis, Microcephaly, Short distal phalanx of finger, Delayed skelet... |
ORPHA:2163 |
Holoprosencephaly |
|
Iris coloboma, Hydrocephalus, Anterior hypopituitarism, Cyclopia, Intestinal atresia, Deeply set ... |
ORPHA:2162 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Optic nerve d... |
OMIM:615287 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma |
OMIM:611638 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Alg13-Cdg |
|
Cognitive impairment, Poor eye contact, Abnormal lateral ventricle morphology |
ORPHA:324422 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Cleft palate, Duodenal atresia, Septo-optic dysplasia, Double outlet r... |
OMIM:301043 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Spinal cord compression, Vertebral fusion, Microcephaly |
OMIM:251250 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal foot morphology, Abnormality of the spinal cord, Hydrocephalus, Foot pain, Increased lax... |
ORPHA:99947 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Myelomeningocele, Situs inversus totalis, Unilateral vertebral artery hypoplasia, S... |
OMIM:613686 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
Hartsfield Syndrome |
|
Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Craniosynostosis, Split hand, Aplasia/... |
ORPHA:2117 |
Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Postaxial foot polydactyly, Anencephaly, Postaxial hand polydactyly |
OMIM:611561 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Arrhinencephaly, Aganglionic megacolon, Asplenia, Abnormal lung lobation, Anophthal... |
OMIM:156810 |
Sheldon-Hall Syndrome |
|
Tarsal synostosis, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, B... |
ORPHA:1147 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Syringomyelia,... |
OMIM:265380 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Toe syndactyly, Cubitus valgus, Scapular winging, Abnormal form of the vertebral b... |
ORPHA:1327 |
Multiple Synostoses Syndrome 3 |
|
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... |
OMIM:612961 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Hypertelorism, Pulmonic s... |
OMIM:220210 |
Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Neuronal loss in basal ganglia, Bradykinesia, Ventriculomegaly, Hyperactivity... |
ORPHA:248111 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Proximal symphalangism of hands, Short 5th metacarpal, Metacarpophalangeal syn... |
OMIM:185800 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Progressive microcephaly, Ataxia, Hypo... |
OMIM:613402 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valga, Semilobar holoprosencep... |
OMIM:601370 |
Waardenburg Syndrome, Type 3 |
|
Cutaneous finger syndactyly, Aganglionic megacolon, Spastic paraplegia, Joint contracture of the ... |
OMIM:148820 |
Brachydactyly, Mononen Type |
|
Aplasia of the distal phalanx of the 2nd finger, Absent distal phalanges, Proximal fibular overgr... |
OMIM:301940 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Triploidy |
|
Meningocele, Hepatomegaly, Cleft palate, Abnormality of the gallbladder, Holoprosencephaly, Macro... |
ORPHA:3376 |
Muscle-Eye-Brain Disease |
|
Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hypertonia, ... |
ORPHA:588 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Hypertelorism, Alobar holoprosencephaly, Dolichocephaly, Agenesis o... |
OMIM:615433 |
Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... |
ORPHA:2741 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Cerebel... |
OMIM:274000 |
Masa Syndrome |
|
Adducted thumb, Talipes equinovarus, Paraplegia, Lower limb spasticity, Kyphosis, Pes cavus, Macr... |
OMIM:303350 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Stereotypy, Ataxia, Macroceph... |
OMIM:618709 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... |
ORPHA:157801 |
Amish Lethal Microcephaly |
|
Optic atrophy, Limb hypertonia, Osteoporosis, Decreased skull ossification, Cerebellar vermis hyp... |
ORPHA:99742 |
Nievergelt Syndrome |
|
Tarsal synostosis, Talipes equinovarus, Genu valgum, Mesomelia, Radial head subluxation, Metatars... |
OMIM:163400 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Hepatomegaly, Meningocele, Duodenal stenosis, Abnormal tricuspid valve morphology, ... |
ORPHA:1759 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Fused cervical vertebrae, Antec... |
OMIM:618469 |
Synostoses, Tarsal, Carpal, And Digital |
|
Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:186400 |
Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Small hand, Proximal placement of thumb, Synosto... |
ORPHA:3121 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Short nose, Hypertelorism, Hypotelorism, Umbilical hernia |
OMIM:613544 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Optic atrophy, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... |
OMIM:605282 |
Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Pulmonary hypoplasia, Bile duct proli... |
OMIM:208540 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Anophthalmia, Coarctation... |
OMIM:601186 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Dysplastic corpus callosum, Poor eye contact, Ataxia, Inability to walk, Microcephaly |
OMIM:618276 |
Meckel Syndrome |
|
Cleft palate, Microphthalmia, Pancreatic cysts, Asplenia, Anencephaly, Congenital hepatic fibrosi... |
ORPHA:564 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Comp... |
ORPHA:363417 |
Otopalatodigital Syndrome, Type I |
|
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Limited elbow extension, Bu... |
OMIM:311300 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finger, Abnormality of the ankl... |
OMIM:186750 |
Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Short nose, Cyclopia, Hypertelorism, Iris coloboma, Abnormality o... |
ORPHA:3380 |
Anophthalmia Plus Syndrome |
|
Hypertelorism, Iris coloboma, Spina bifida, Choanal atresia, Abnormal nasal morphology |
ORPHA:1104 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Semilobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... |
ORPHA:93924 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
White Forelock With Malformations |
|
Hypertelorism, Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Holoprosencephaly, Hypotelori... |
ORPHA:250999 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Cryptorchidism,... |
OMIM:615524 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Anophthalmia, Esophageal atresia, P... |
ORPHA:77298 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormal foot morphology, Abnormality of the metaphysis, Osteolysis, Abnormali... |
ORPHA:1657 |
Holoprosencephaly 1 |
|
Aplasia of the nose, Hypotelorism, Proboscis, Ethmocephaly, Alobar holoprosencephaly, Midface ret... |
OMIM:236100 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Holoprosencephaly, Short nose, Anteverted nares, Cyclopia, Agenesis of co... |
ORPHA:261236 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypotelorism, Tetralogy of Fallot, Deeply set eye |
ORPHA:276422 |
Fountain Syndrome |
|
Abnormal foot morphology, Metaphyseal dysplasia, Large hands, Abnormal form of the vertebral bodi... |
ORPHA:3219 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Holoprosencephaly, Hypotelorism, Absent gallbladder, Iris coloboma, Tetralogy of ... |
ORPHA:3186 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Hypotelorism, Depressed nasal tip, Semilobar holoprosencephaly, Absent na... |
OMIM:142946 |
Waardenburg Syndrome Type 3 |
|
Cutaneous finger syndactyly, Abnormality of the upper limb, Spastic paraplegia, Synostosis of car... |
ORPHA:896 |
Anencephaly 2 |
|
Anencephaly |
OMIM:619452 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th... |
ORPHA:3268 |
Monosomy 18P |
|
Holoprosencephaly, Kyphoscoliosis, Brachydactyly, Short neck, Microcephaly |
ORPHA:1598 |
Gorlin Syndrome |
|
Plantar pits, Vertebral fusion, Vertebral wedging, Palmar pits, Hemivertebrae, Arachnodactyly, Hy... |
ORPHA:377 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Postaxial hand polydactyly... |
ORPHA:2189 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Microcephaly |
OMIM:616311 |
Brachydactyly, Type A1 |
|
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... |
OMIM:112500 |
Lambotte Syndrome |
|
Microcephaly, Semilobar holoprosencephaly, Preaxial foot polydactyly |
OMIM:245552 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Brachycephaly, Hypotelorism, Deeply set eye, Iris coloboma, Spina bifida occulta, Microcephaly |
OMIM:268850 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... |
OMIM:604213 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... |
OMIM:608978 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cleft palate, Microphthalmia, Abnormal lung lobation, Thyroid hypoplasia, Holoprosencephaly, Cycl... |
ORPHA:2166 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... |
OMIM:123150 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Asplenia, Bronchiectasis, Situs inversus totalis, Recurre... |
OMIM:244400 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypotelorism, Patent ductus arteriosus |
OMIM:618974 |
Meckel Syndrome, Type 6 |
|
Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydactyly, Hand polydactyly |
OMIM:612284 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Patent ductus arteriosus, Splenomegaly, Iris coloboma, Accessory spleen, Vascular d... |
OMIM:249000 |
Fatco Syndrome |
|
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... |
ORPHA:2492 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Long phalanx of finger, Ankle flexion contracture, Long... |
OMIM:305620 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal foot morphology, Talipes equinovarus, Metacarpal synostosis, Elevated circulating follic... |
ORPHA:95699 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Talipes equinovarus, Kyphoscoliosis, Epiphyseal dysplasia, Platyspondyly, Hip dislocation, Carpal... |
OMIM:615349 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Hydranencephaly, Myelomeningocele, Kyphosis, Spina bifida, Porencephalic cyst, Cereb... |
ORPHA:1393 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Distal Symphalangism |
|
Joint stiffness, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, C... |
ORPHA:3248 |
Caudal Regression Sequence |
|
Arrhinencephaly, Talipes equinovarus, Abnormal vertebral segmentation and fusion, Abnormal iliac ... |
ORPHA:3027 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of the lesser tro... |
OMIM:147891 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Hypertelorism, Patent ductus arteriosus... |
OMIM:618316 |
Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... |
ORPHA:185 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Chorioretinal coloboma, Deeply set eye, Cervical spina bifida |
OMIM:600122 |
Truncus Arteriosus |
|
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... |
ORPHA:3384 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... |
OMIM:263540 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Ataxia, Cerebral atrophy, Mental deterioration |
OMIM:615924 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... |
ORPHA:93307 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... |
ORPHA:66637 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... |
ORPHA:216694 |
49,Xxxxy Syndrome |
|
Arrhinencephaly, Talipes equinovarus, Holoprosencephaly, Abnormality of epiphysis morphology, Pes... |
ORPHA:96264 |
Holoprosencephaly 7 |
|
Flat occiput, Fusion of the left and right thalami, Short nose, Hypotelorism, Iris coloboma, Fron... |
OMIM:610828 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Ventriculomegaly, Attention deficit hyperactivit... |
OMIM:608716 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Talipes equinovarus, Hand clenching, ... |
OMIM:611890 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... |
OMIM:157800 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... |
ORPHA:2756 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormality of the elbow, Synostosis of carpal bones, Finger synd... |
ORPHA:1005 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus |
OMIM:614779 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small anterior fontanelle, Large beaked nose, Metopic suture patent to nasal root, Trigonocephaly... |
ORPHA:3369 |
Chiari Malformation Type Ii |
|
Opisthotonus, Myelomeningocele, Syringomyelia, Ataxia, Cervical myelopathy, Spina bifida, Hydroce... |
OMIM:207950 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect |
OMIM:617744 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... |
ORPHA:1228 |
Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Cleft palate, Microphthalmia, Abnormal lung lobat... |
ORPHA:3378 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Abnormality of the pancreas,... |
ORPHA:1926 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Radial deviation of the thumb, 3-4 finger syndactyly, Thoracolumbar scoliosis, ... |
ORPHA:2437 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Recu... |
OMIM:613807 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... |
ORPHA:500166 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Polymicrogyria, Short h... |
OMIM:218600 |
Pseudoarthrogryposis |
|
Ankylosis, Limited elbow movement, Proximal tibial and fibular fusion |
OMIM:177300 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormality of femur morphology, Limb undergrowth, Abnormal form of the verteb... |
ORPHA:3429 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Developmental And Epileptic Encephalopathy 87 |
|
Prominent nose, Hypotelorism, Hypertelorism, Bulbous nose, Cerebral atrophy, Midface retrusion |
OMIM:618916 |
Caudal Duplication |
|
Myelomeningocele, Abnormal sacrum morphology, Spinal cord lesion, Bifid sacrum, Spina bifida, Ver... |
ORPHA:1756 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis |
OMIM:611884 |
Proboscis Lateralis |
|
Chorioretinal coloboma, Holoprosencephaly, Cyclopia, Hypertelorism, Abnormal corpus callosum morp... |
ORPHA:141099 |
Muenke Syndrome |
|
Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, ... |
OMIM:602849 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, T... |
OMIM:183802 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Depressed nasal ridge, Brachycephaly, Hypotelorism, Hypertelorism, Thick corpus ca... |
OMIM:618672 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Ciliary Dyskinesia, Primary, 25 |
|
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent... |
OMIM:615482 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Dandy-Walker malformation, Anencephaly, Talipes equinovarus, Tapered finger, Small thenar eminenc... |
OMIM:619148 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Small anterior fontanelle, Convex nasal ridge, Trigonocephaly, Hypotelorism, Wide nasal bridge, P... |
OMIM:314320 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Carpal synostosis, Abnormality of the wrist, Abnormality of the ankles |
ORPHA:2010 |
Agnathia-Otocephaly Complex |
|
Cleft palate, Aglossia, Holoprosencephaly, Situs inversus totalis, Microglossia |
OMIM:202650 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, High palate, Patent ductus arteriosus, Anal atresia, Anterior hypopituitarism, Cryp... |
ORPHA:2863 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Single transverse palmar crease, Lobar holoprosencephaly, Hemivertebrae, Micr... |
OMIM:614701 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Pentalogy Of Cantrell |
|
Anencephaly, Talipes, Aplasia/Hypoplasia of the radius, Split hand, Hydrocephalus, Abnormality of... |
ORPHA:1335 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pes planus, Pathologic fracture, Hip su... |
OMIM:271640 |
Short-Rib Thoracic Dysplasia 12 |
|
Broad palm, Anencephaly, Hypoplastic scapulae, Bowing of the legs, Holoprosencephaly, Short finge... |
OMIM:269860 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Frequent falls, Achilles tendon contracture, Facial palsy, Shoulder girdle musc... |
OMIM:606612 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ciliary Dyskinesia, Primary, 20 |
|
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respiratory ... |
OMIM:615067 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Stereotypy, Polymicrogyria, Camptodactyly of finger, Cerebral atrophy, Cerebellar hypoplasia, Cer... |
ORPHA:468631 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Bilateral single tra... |
ORPHA:1120 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Cerebellar vermis hy... |
OMIM:616546 |
Isolated Trigonocephaly |
|
Trigonocephaly, Hypotelorism, Wide nasal bridge |
ORPHA:3366 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
Limb Body Wall Complex |
|
Short umbilical cord, Cutaneous finger syndactyly, Bilateral talipes equinovarus, Abnormality of ... |
ORPHA:2369 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Apert Syndrome |
|
Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Megalencephaly, Synostosis of carpa... |
OMIM:101200 |
Spondylocarpotarsal Synostosis Syndrome |
|
Talipes equinovarus, Capitate-hamate fusion, C2-C3 subluxation, Epiphyseal dysplasia, Pes planus,... |
OMIM:272460 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Thoracolumbar scoliosis, ... |
OMIM:113450 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Hemivertebrae, Abnormal form of the vertebral bodies, Absence of the sacrum, Hyp... |
ORPHA:3412 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Agenesis of corpus callosum, Lethargy |
OMIM:605899 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Deeply set eye |
ORPHA:3204 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... |
ORPHA:1307 |
Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Short 5th finger, Hip dislocation, Scoliosis, Cerebral atrophy, ... |
OMIM:615583 |
Endocrine-Cerebroosteodysplasia |
|
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Postaxial pol... |
OMIM:612651 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Hypotelorism, Abnormality of calvarial morphology, Patent ductus arteriosus |
ORPHA:1952 |
Albinism-Deafness Syndrome |
|
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism |
OMIM:300700 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Abnormality of the ankles |
ORPHA:1412 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Holoprosencephaly, Exaggerated startle response, Lissencephaly, Pachygyria, Spinal... |
OMIM:253800 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Hyperlordosis, Camptodactyly of finger, Scoliosis,... |
ORPHA:1323 |
Ivic Syndrome |
|
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... |
OMIM:147750 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Macrocytic anemia, Cleft palate, Hypertelorism, Abnormal cardiac septum morphology,... |
OMIM:614294 |
Arachnoid Cyst |
|
Holoprosencephaly, Sciatica, Cranial nerve compression, Spinal cord compression, Posterior fossa ... |
ORPHA:2356 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus |
OMIM:615297 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... |
OMIM:613759 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia |
OMIM:156232 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Coarctation of aorta, Glossop... |
OMIM:616145 |
Vacterl/Vater Association |
|
Abnormal intervertebral disk morphology, Anencephaly, Abnormal sacrum morphology, Aplasia/Hypopla... |
ORPHA:887 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... |
ORPHA:3258 |
Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Depressed nasal bridge, Short nose, Hypotelorism, Hypertelorism, Hydrocephalus, Ap... |
OMIM:617822 |
Frontoocular Syndrome |
|
High palate, Hypotelorism, Pulmonic stenosis, Atrial septal defect, Proptosis |
OMIM:605321 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Hypertelorism, Patent ductus arteriosus... |
OMIM:179613 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Facial diplegia, Arthrogryposis multiplex congenita, Knee flexion contracture, Small b... |
OMIM:616286 |
Isolated Exencephaly |
|
Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Anterior pituitary hypop... |
ORPHA:563612 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Hepatomegaly, Abnormal aortic arch morphology, Ventricular septal defect... |
ORPHA:860 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, W... |
ORPHA:894 |
Halperin-Birk Syndrome |
|
Optic atrophy, Agenesis of corpus callosum, Talipes equinovarus, Pseudobulbar paralysis, Colpocep... |
OMIM:618651 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Small placenta, Finger syndactyly, Cerebellar hypoplasia, Pterygiu... |
OMIM:256520 |
Cardiac-Urogenital Syndrome |
|
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... |
OMIM:618280 |
Mental Retardation, Autosomal Recessive 13 |
|
Hypotelorism, Hypertelorism, Wide nasal bridge, Secondary microcephaly, Hypoplasia of the corpus ... |
OMIM:613192 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Cervical cord compression, Metaphyseal irregularity, Genu recur... |
OMIM:177170 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... |
OMIM:618780 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Persistent left superior vena cava, Double outlet right ventricle, Hypertelorism, Pa... |
ORPHA:3304 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Pulmonary hypoplasia, Abnormal descen... |
ORPHA:99050 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Flat occiput, Depressed nasal ridge, Abnormal cortical gyration, Large fontanelles, Brachycephaly... |
ORPHA:2211 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Abdominal situs inversus |
OMIM:619607 |
Trigonocephaly 1 |
|
Trigonocephaly, Craniosynostosis, Hypotelorism, Microcephaly |
OMIM:190440 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Basal Cell Nevus Syndrome |
|
Plantar pits, Irregular ossification of hand bones, Vertebral fusion, Polydactyly, Palmar pits, V... |
OMIM:109400 |
Tonne-Kalscheuer Syndrome |
|
Dysphagia, Abnormal heart morphology, Hypotelorism, Hypertelorism, Velopharyngeal insufficiency, ... |
OMIM:300978 |
Floating-Harbor Syndrome |
|
Celiac disease, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial sept... |
OMIM:136140 |
Nail-Patella Syndrome |
|
Talipes equinovarus, Quadriceps aplasia, Elongated radius, Pes planus, Biceps aplasia, Limited el... |
OMIM:161200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Abnormally large globe, Atrial septal defect, Hydroceph... |
OMIM:603387 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Isomerism, Atrioventricular canal defect, Anal atresia, Transposition of the great arteries, Hydr... |
OMIM:314390 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Cleft palate, High palate, Ventricular septal defect, Hypotelorism |
OMIM:617164 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... |
OMIM:113000 |
Jacobsen Syndrome |
|
Pyloric stenosis, Ventricular septal defect, Microphthalmia, Chorioretinal coloboma, Annular panc... |
OMIM:147791 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Ciliary Dyskinesia, Primary, 38 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis |
OMIM:618063 |
Mucolipidosis Iv |
|
Dystonia, Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelinati... |
OMIM:252650 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Simplified gyral pattern, Periventricular white matter hyperintensities, Hyp... |
OMIM:619470 |
Unilateral Focal Polymicrogyria |
|
Aggressive behavior, Impaired use of nonverbal behaviors, Intracerebral periventricular calcifica... |
ORPHA:268947 |
Mental Retardation, Autosomal Recessive 5 |
|
Underdeveloped nasal alae, Prominent nose, Hypotelorism, Hypertelorism, Wide nasal bridge, Promin... |
OMIM:611091 |
Gracile Bone Dysplasia |
|
Microphthalmia, Asplenia, Aniridia, Ankyloglossia, Hydrocephalus, Hypoplastic spleen |
OMIM:602361 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lower limb asymmetry, Macrodactyly, Sandal gap, Tethered cord, Spinal dysraphism, Scoliosis |
OMIM:612918 |
Pseudoaminopterin Syndrome |
|
Pes planus, Postaxial polydactyly, Sacrococcygeal pilonidal abnormality, Clinodactyly of the 5th ... |
ORPHA:221120 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Hyporeflexia of lower limbs, Areflexia of lower limbs, Paresis of extensor muscles of ... |
OMIM:608634 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... |
OMIM:619191 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Abnormality of the optic disc, Pes planus, Stereotypy, Broad hallux, Thoracic... |
ORPHA:508498 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Ciliary Dyskinesia, Primary, 30 |
|
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory i... |
OMIM:616037 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia, Hypoplasia of the corpus callosum, ... |
OMIM:300983 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Brachycephaly, Hypotelorism, Midface retrusion, Cerebral cortical atrophy... |
ORPHA:1387 |
Otofacioosseous-Gonadal Syndrome |
|
Talipes equinovarus, Wormian bones, Genu valgum, Carpal synostosis, Delayed skeletal maturation, ... |
OMIM:601976 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Hypotelorism, Frontal bossin... |
OMIM:604757 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Cerebral white matter hypoplasia, Hypotelorism, Pachygyria, Hypoplasia of the corpus callosum, Mi... |
OMIM:619091 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Craniosynostosis, Hypotelorism, Wide nasal bridge, Hypertelorism, Frontal bossing,... |
OMIM:613174 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
1Q21.1 Microduplication Syndrome |
|
Hypertelorism, Tetralogy of Fallot, Hydrocephalus, Cryptorchidism, Gastroesophageal reflux |
ORPHA:250994 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Neu-Laxova Syndrome |
|
Rickets, Polymicrogyria, Cerebellar hypoplasia, Pterygium, Osteomalacia, Abnormal cortical gyrati... |
ORPHA:2671 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Large fontanelles, Brachycephaly, Hypotelorism, Narrow nasal bridge, Delayed crania... |
ORPHA:2511 |
Trisomy 20P |
|
Abnormal foot morphology, Talipes, Abnormal form of the vertebral bodies, Platyspondyly, Finger s... |
ORPHA:261318 |
Wildervanck Syndrome |
|
Meningocele, Facial palsy, Fused cervical vertebrae, Short neck, Pseudopapilledema |
ORPHA:3456 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Cerebral atrophy, Anxiety, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616977 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Trisomy 1Q |
|
Ventricular septal defect, Cleft palate, Anophthalmia, Hypotelorism, Hypertelorism, Patent ductus... |
ORPHA:261344 |
Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
Anauxetic Dysplasia 1 |
|
Small epiphyses, Cervical subluxation, Short finger, Cervical cord compression, Rhizomelia, Platy... |
OMIM:607095 |
Stormorken Syndrome |
|
Asplenia, Hypotelorism, Anemia, Howell-Jolly bodies, Thrombocytopenia, Deeply set eye |
OMIM:185070 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis, Hyporeflexia of lower limbs, Areflexia of lower limbs, Paresis of extensor muscles of ... |
OMIM:158590 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Depressed nasal ridge, Hypotelorism, Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Microcephaly |
OMIM:608747 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Oligodactyly, Holoprosenc... |
OMIM:146510 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Cleft palate, Hypertelorism, Glossoptosis, Atrial septal defect |
ORPHA:1388 |
Steinfeld Syndrome |
|
Abnormality of the vertebral column, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thu... |
OMIM:184705 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Coarctation of aorta, Hypertelorism, Pulmonic stenosis, Hepatic steatosis, Atria... |
OMIM:614300 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Myelomeningocele, Short nose, Hypertelorism, Hydrocephalus, Proptosis, An... |
ORPHA:1914 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot, Proptosis |
OMIM:187500 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... |
OMIM:617478 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
Roberts Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... |
ORPHA:3103 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Hepatomegaly, Arrhinencephaly, Truncus arteriosus, Microgastria, Perin... |
ORPHA:2538 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cerebral cortical hemiatrophy, Cognitive impairment, Subcortical cerebral atrophy, ... |
ORPHA:1929 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Hypotelorism, Depressed nasal bridge, Microcephaly |
OMIM:618500 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:614679 |
Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Kyphosis, Bilateral single transverse palmar creases, Short neck, Sco... |
ORPHA:3191 |
Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Right aortic arch, Decreased t... |
OMIM:147770 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, ... |
ORPHA:290 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis |
OMIM:309630 |
Mesomelia-Synostoses Syndrome |
|
Short umbilical cord, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of t... |
OMIM:600383 |
Albinism-Deafness Syndrome |
|
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... |
ORPHA:998 |
Alg3-Cdg |
|
Dandy-Walker malformation, Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral m... |
ORPHA:79321 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections |
OMIM:253300 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Cervic... |
OMIM:614034 |
Pagod Syndrome |
|
Meningocele, Abnormality of the spleen, Abnormal aortic morphology, Situs inversus totalis, Pulmo... |
ORPHA:991 |
Brachydactyly Type A7 |
|
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... |
ORPHA:93397 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Finger syndactyly,... |
ORPHA:710 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Thoracic kyphosis, Delayed skeletal maturation, Scoliosis, Finger c... |
ORPHA:2332 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis, Hepatic cysts |
OMIM:613095 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, High palate, Atrioventricular canal defect, Coarctation of aorta, Hypertelorism, De... |
OMIM:618929 |
Monosomy 13Q14 |
|
Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Short neck, ... |
ORPHA:1587 |
Menkes Disease |
|
Tarsal synostosis, Chondrocalcinosis, Chorea, Bowing of the long bones, Osteoporosis, Wormian bon... |
ORPHA:565 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizome... |
ORPHA:163966 |
Hypertelorism And Tetralogy Of Fallot |
|
Hypertelorism, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pul... |
OMIM:239711 |
Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
Microcephaly, Autosomal Dominant |
|
Hypotelorism, Microcephaly |
OMIM:156580 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Hyperactivity, Ataxia, Focal cortical dysplasia, Impaired social interaction... |
OMIM:610042 |
Distal Monosomy 10Q |
|
Prominent nose, Brachycephaly, Short nose, Craniosynostosis, Wide nasal bridge, Prominent nasal b... |
ORPHA:96148 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Lethargy |
OMIM:274270 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal coronary artery morpholog... |
ORPHA:980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Periventricular white matter hyperintensities, Attention deficit hyperactivity dis... |
OMIM:301008 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Microphthalmia, Hypertelorism, Cardiomegaly, Patent ductus arteriosus,... |
OMIM:618652 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Cerebral white matter atrophy, Secondary microcephaly, Short nose, Hypotelorism |
OMIM:615042 |
Meacham Syndrome |
|
Abnormality of the spleen, Conotruncal defect, Ventricular septal defect, Aplasia/Hypoplasia of t... |
ORPHA:3097 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, High palate, Microphthalmia, Hypotelorism |
OMIM:619053 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Periventricular white matter hyperintensities, Corpus callosum at... |
ORPHA:228360 |
Ciliary Dyskinesia, Primary, 2 |
|
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Hypertelorism, Intestin... |
ORPHA:401935 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Butt... |
OMIM:304050 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... |
ORPHA:95430 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Large fontanelles, Brachycephaly, Hypotelorism, Hypertelorism, Wormian bones, Narrow nasal ridge,... |
OMIM:219150 |
Cranioectodermal Dysplasia |
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Craniosynostosis, Hypotelorism, Frontal bossing, Anteverted nares, Prominent occiput, Dolichocephaly |
ORPHA:1515 |
Maternal Phenylketonuria |
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Ventricular septal defect, High palate, Abnormal heart morphology, Double outlet right ventricle,... |
ORPHA:2209 |
Aminoacylase 1 Deficiency |
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Hyperactivity, Cerebral atrophy |
OMIM:609924 |
2Q23.1 Microduplication Syndrome |
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Prominent nasal tip, Prominent nose, Hypotelorism, Bulbous nose, Midface retrusion |
ORPHA:313947 |
Sirenomelia |
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Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia, Absence of the sacrum |
ORPHA:3169 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Hypoplasia of the corpus callosum |
OMIM:618090 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Narrow nose, Depressed nasal bridge, Short nose, Hypotelorism, Prominent nasal bridge, Wide nasal... |
OMIM:618454 |
Li-Campeau Syndrome |
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Ventricular septal defect, Gastrointestinal dysmotility, Hypertelorism, Patent ductus arteriosus,... |
OMIM:619189 |
Aarskog-Scott Syndrome |
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Broad palm, Talipes, Abnormal vertebral segmentation and fusion, Small hand, Pes planus, Genu rec... |
ORPHA:915 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
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Hypotelorism, Simplified gyral pattern, Progressive microcephaly, Cerebral atrophy, Hypoplasia of... |
OMIM:615760 |
Waardenburg Syndrome, Type 4B |
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Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Heart Defects-Limb Shortening Syndrome |
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Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Fanconi Anemia, Complementation Group D2 |
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Neutropenia, Microphthalmia, Annular pancreas, Leukemia, Abnormal heart morphology, Hypotelorism,... |
OMIM:227646 |
Kniest Dysplasia |
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Short long bone, Laryngotracheomalacia, Coronal cleft vertebrae, Vertebral wedging, Delayed epiph... |
ORPHA:485 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Holoprosencephaly, Hypotelorism, Prominent occiput, Abnormality of the external nose, Semilobar h... |
ORPHA:556955 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosus, Atrial septal defect, Hy... |
OMIM:614886 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Increased mean... |
OMIM:612561 |
Charge Syndrome |
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Arrhinencephaly, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Retinal coloboma, Pa... |
OMIM:214800 |
Tarsal Coalition |
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Tarsal synostosis |
OMIM:186850 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Frontal bossing, Hypotelorism, Microcephaly |
OMIM:618718 |
Fibrodysplasia Ossificans Progressiva |
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Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... |
OMIM:135100 |
Autosomal Recessive Spondylocostal Dysostosis |
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Meningocele, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Fing... |
ORPHA:2311 |
Amyotrophy, Hereditary Neuralgic |
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Hypotelorism, Depressed nasal bridge, Deeply set eye, Long nasal bridge |
OMIM:162100 |
Hand-Foot-Genital Syndrome |
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Proximal placement of thumb, Synostosis of carpal bones, Short 1st metacarpal, Short thumb, Sacra... |
ORPHA:2438 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limb... |
OMIM:300863 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Double outl... |
ORPHA:477817 |
Transaldolase Deficiency |
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Biventricular hypertrophy, Coarctation of aorta, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial se... |
ORPHA:101028 |
Phaver Syndrome |
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Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Myelomeningocele, Ulnar deviation... |
ORPHA:2876 |
Kbg Syndrome |
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Vertebral fusion, Radial deviation of finger, Syndactyly, Vertebral arch anomaly, Thoracic kyphos... |
OMIM:148050 |
Kallmann Syndrome-Heart Disease Syndrome |
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Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Double outlet right ventricle, Pulmonar... |
ORPHA:2326 |
Microphthalmia, Isolated, With Coloboma 10 |
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Anophthalmia, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Ventricular septal defect, Duodenal atresia, Abnormal lung lobation, Coarctation of aorta, Hypote... |
OMIM:614114 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Butterfly vertebrae, Laryngotracheomalacia, Talipes, Absence of the sacrum, Hypoplastic sacrum, T... |
OMIM:617660 |
8P23.1 Duplication Syndrome |
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Ventricular septal defect, Hypertelorism, Pulmonic stenosis, Tetralogy of Fallot, Deeply set eye |
ORPHA:251076 |
Multiple Synostoses Syndrome 4 |
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Tarsal synostosis, Pes planus, Overlapping toe, Broad foot, Brachydactyly |
OMIM:617898 |
Congenital Radioulnar Synostosis |
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Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Blepharocheilodontic Syndrome 1 |
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Choanal atresia, Hypertelorism, Neural tube defect |
OMIM:119580 |
Hermansky-Pudlak Syndrome 3 |
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Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Marden-Walker Syndrome |
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Dextrocardia, Pyloric stenosis, High, narrow palate, Cleft palate, High palate, Microphthalmia, H... |
OMIM:248700 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Ventricular hypertrophy, Hypertelorism, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Sweeney-Cox Syndrome |
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Cleft palate, High palate, Asplenia, Hypertelorism, Anal atresia, Bilateral cryptorchidism, Gastr... |
OMIM:617746 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Pes planus, Toe clinodactyly, Limit... |
ORPHA:457395 |
Familial Congenital Mirror Movements |
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Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Fused cervical vertebrae, Poor fine mo... |
ORPHA:238722 |
Central Neurocytoma |
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Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification, Lethargy |
ORPHA:73256 |
Velocardiofacial Syndrome |
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Interrupted aortic arch, Ventricular septal defect, Hypoparathyroidism, Cleft palate, Umbilical h... |
OMIM:192430 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Aggressive behavior, Ventriculomegaly, Hyperactivity, Broad-based gait, Hypoplasia of the corpus ... |
ORPHA:457260 |
Tetralogy Of Fallot |
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Cryptorchidism, Tetralogy of Fallot, Proptosis |
ORPHA:3303 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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