Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... |
ORPHA:166016 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, Cervical segment... |
OMIM:108721 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal calcification, Calcification of... |
ORPHA:3348 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Fibrochondrogenesis 1 |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... |
OMIM:228520 |
Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
Mounier-Kühn Syndrome |
|
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... |
ORPHA:3347 |
Atelosteogenesis, Type I |
|
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia... |
OMIM:108720 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat... |
ORPHA:93307 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ... |
OMIM:224300 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Achondroplasia |
|
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Mega... |
OMIM:100800 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Retrognathia, Microgna... |
OMIM:227270 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Art... |
ORPHA:1856 |
Omodysplasia 2 |
|
Limited elbow flexion, Recurrent otitis media, Micrognathia, Dislocated radial head, Hypoplastic ... |
OMIM:164745 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... |
OMIM:151210 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... |
OMIM:164900 |
Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, 11 pairs of ribs, Overlapp... |
OMIM:201170 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibia, Short thumb, Radial c... |
ORPHA:1972 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Low-set ears, Micrognathia, Talipes, Pes planus, Dislocated radial head, High pa... |
OMIM:210600 |
Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... |
OMIM:616897 |
3M Syndrome |
|
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... |
ORPHA:2616 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Scapulo... |
OMIM:602471 |
Acrodysostosis |
|
Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo... |
ORPHA:950 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Kyphomelic Dysplasia |
|
Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant... |
OMIM:211350 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microgn... |
ORPHA:1988 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... |
OMIM:610915 |
Tracheal Agenesis |
|
Tracheal atresia, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Marshall Syndrome |
|
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... |
OMIM:154780 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... |
ORPHA:958 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Cerebral calcification, M... |
ORPHA:3035 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Ankle clonus, Rigidity, Babinski sign,... |
ORPHA:100984 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
Acromesomelic Dysplasia 4 |
|
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo... |
OMIM:619636 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Pyle Disease |
|
Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of... |
OMIM:265900 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Thoracic hypoplasia, Radial bowing, Preaxial polydactyly, Intestinal malrotation, ... |
OMIM:617866 |
Atelosteogenesis Type Ii |
|
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Bell-shap... |
ORPHA:56304 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... |
OMIM:600002 |
Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity |
ORPHA:228169 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... |
OMIM:118651 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... |
ORPHA:79106 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... |
OMIM:210720 |
Spondyloepiphyseal Dysplasia Congenita |
|
Hearing impairment, Dysplasia of the femoral head, Micrognathia, Genu valgum, Barrel-shaped chest... |
ORPHA:94068 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
Campomelic Dysplasia |
|
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... |
OMIM:114290 |
Microcephaly-Micromelia Syndrome |
|
Low-set ears, Short tibia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Narrow mouth,... |
OMIM:251230 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Sensorineural hearing impairmen... |
OMIM:271700 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... |
OMIM:268310 |
Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... |
OMIM:249710 |
Microphthalmia With Limb Anomalies |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 t... |
OMIM:206920 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... |
ORPHA:3258 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Saul-Wilson Syndrome |
|
Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai... |
OMIM:618150 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short... |
OMIM:268305 |
Atelosteogenesis, Type Ii |
|
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Short neck, Diaphyseal undertubulation, Hypoplastic ilia, Lymphedema, Fibul... |
ORPHA:3144 |
Multiple Synostoses Syndrome 1 |
|
Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ... |
OMIM:186500 |
Dystonia 16 |
|
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait, Bradykinesia |
ORPHA:210571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... |
OMIM:222765 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Bilateral lung agenesis |
OMIM:601612 |
Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphys... |
OMIM:619135 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus |
ORPHA:2703 |
Amyotrophic Lateral Sclerosis 3 |
|
Cerebellar atrophy |
OMIM:606640 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1788 |
W Syndrome |
|
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... |
ORPHA:2804 |
Orofaciodigital Syndrome Iii |
|
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Kyphosis, Microdontia, Short sternum, Post... |
OMIM:258850 |
Campomelic Dysplasia |
|
Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Sh... |
ORPHA:140 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
Turnpenny-Fry Syndrome |
|
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Hypoplasia of the corpus c... |
OMIM:618371 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... |
ORPHA:2831 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Sensori... |
ORPHA:440354 |
Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, ... |
OMIM:616300 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... |
OMIM:612447 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... |
OMIM:252100 |
Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasi... |
OMIM:212780 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, S... |
ORPHA:1106 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... |
OMIM:619598 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, A... |
OMIM:617925 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Microcephaly, Radioulnar synos... |
ORPHA:3268 |
Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi... |
OMIM:128230 |
Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... |
OMIM:300373 |
Phocomelia, Schinzel Type |
|
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... |
ORPHA:2879 |
Atelosteogenesis Type I |
|
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Joint dislocation, Thoracic hypoplasia, Ab... |
ORPHA:1190 |
Tarp Syndrome |
|
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... |
OMIM:311900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino... |
OMIM:271640 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bone... |
OMIM:613848 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hearing impairment, Hypoplastic iliac win... |
OMIM:609945 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, De... |
ORPHA:1452 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic h... |
OMIM:613091 |
Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers... |
OMIM:304120 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:613643 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... |
OMIM:618395 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... |
ORPHA:163649 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Low-set ears, Flat occiput, Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upp... |
ORPHA:357175 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Low-set ears, Flat occiput, Clinodactyly, Long philtrum, Downturned corners of mouth, Micrognathi... |
OMIM:615162 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... |
OMIM:157980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... |
OMIM:300423 |
Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal pinna ... |
OMIM:277150 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... |
OMIM:156510 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... |
OMIM:620076 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Parkinsonism, Abno... |
OMIM:615528 |
Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
Cousin Syndrome |
|
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... |
OMIM:260660 |
Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... |
OMIM:184260 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Low-set,... |
ORPHA:2631 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Micrognathia, Cleft soft palate, Genu valgum, Metaphyseal dysplasia, A... |
ORPHA:93316 |
Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi... |
ORPHA:101110 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... |
OMIM:616716 |
Clark-Baraitser syndrome |
|
Genu recurvatum, Scoliosis, Exaggerated median tongue furrow, Thick lower lip vermilion, Frontal ... |
OMIM:300602 |
Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin... |
ORPHA:93328 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Frontal bossing, Aplasia of the proximal phalanges of the hand, Micrognathia, ... |
ORPHA:2256 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... |
ORPHA:2756 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... |
OMIM:609052 |
Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
Cleidocranial Dysplasia 2 |
|
Aplastic clavicle, Short distal phalanx of finger, Broad thumb, Hypoplasia of the maxilla, Hearin... |
OMIM:620099 |
Greenberg Dysplasia |
|
Platyspondyly, Narrow chest, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Abnormal ... |
ORPHA:1426 |
Postaxial Acrofacial Dysostosis |
|
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... |
ORPHA:246 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Downturned c... |
ORPHA:93267 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Cerebrocostomandibular Syndrome |
|
Low-set ears, Carious teeth, Cleft soft palate, Bell-shaped thorax, Micrognathia, Short hard pala... |
OMIM:117650 |
Thanatophoric Dysplasia Type 1 |
|
Hearing impairment, Bowing of the long bones, Short greater sciatic notch, Cloverleaf skull, Hypo... |
ORPHA:1860 |
Kinsship Syndrome |
|
Low-set ears, Ankyloglossia, Micrognathia, Short neck, Pes planus, Dislocated radial head, Hip di... |
OMIM:619297 |
Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... |
ORPHA:166272 |
Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Spinocerebellar Ataxia 41 |
|
Cerebellar vermis atrophy, Cerebellar atrophy |
OMIM:616410 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cerebral calcification, Mi... |
ORPHA:628 |
Marshall-Smith Syndrome |
|
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... |
OMIM:602535 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... |
OMIM:616710 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal... |
OMIM:613849 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Gait disturbance, Bradykin... |
OMIM:618418 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost... |
OMIM:147891 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single transverse palmar creases, B... |
OMIM:143095 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Cerebellar dysplasia, Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Bilateral single transverse palmar creases, Abnormal metacarpal m... |
ORPHA:2511 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... |
OMIM:311895 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... |
ORPHA:3352 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta, Rhizomelia, Pectus carinatum, Osteopenia, Vertebral wedging, Hearing i... |
OMIM:301014 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
Orofaciodigital Syndrome Iv |
|
Low-set ears, Toe syndactyly, Lobulated tongue, Cerebral atrophy, Short tibia, Hamartoma of tongu... |
OMIM:258860 |
Cornelia De Lange Syndrome 1 |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, Short neck, Dislocated radial head,... |
OMIM:122470 |
Melnick-Needles Syndrome |
|
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ... |
OMIM:309350 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Long philtrum, Ectrodactyly, R... |
ORPHA:2878 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Gait disturbance... |
OMIM:213600 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
Codas Syndrome |
|
Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Hypoplasia of the corpus callosum,... |
OMIM:600373 |
Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Orofaciodigital Syndrome Type 3 |
|
Low-set ears, Cerebellar vermis hypoplasia, Bifid uvula, Abnormality of the dentition, Postaxial ... |
ORPHA:2752 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Hypertrichosis, Congenital Generalized, 2 |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... |
ORPHA:454887 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula, Arthrogryposis mult... |
OMIM:616531 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy |
OMIM:617769 |
Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr... |
OMIM:218600 |
Postaxial Acrofacial Dysostosis |
|
Low-set ears, Congenital hip dislocation, Conical tooth, Cupped ear, Short thumb, Cleft upper lip... |
OMIM:263750 |
Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait |
OMIM:128235 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Hearing impairment, Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radi... |
OMIM:614078 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... |
OMIM:601438 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... |
ORPHA:75508 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... |
ORPHA:314632 |
Dysostosis, Stanescu Type |
|
Carious teeth, Cerebral calcification, Bowing of the long bones, Short neck, Increased bone miner... |
ORPHA:1798 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Low-set ears, Retrognathia, Secondary microcephaly, Intrauterine growth retardation, Thick vermil... |
OMIM:620113 |
Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... |
ORPHA:2886 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Ta... |
ORPHA:3404 |
Dandy-Walker Syndrome |
|
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... |
OMIM:220200 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flatte... |
OMIM:618363 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hea... |
OMIM:616331 |
Aminopterin Syndrome Sine Aminopterin |
|
Low-set ears, Joint contracture of the hand, Clinodactyly, Micrognathia, Arachnodactyly, High pal... |
OMIM:600325 |
Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... |
ORPHA:3104 |
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy |
|
Hypertrichosis |
OMIM:620470 |
Otoonychoperoneal Syndrome |
|
Low-set ears, Ankle flexion contracture, Hip contracture, Knee flexion contracture, Posteriorly r... |
OMIM:259780 |
Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... |
OMIM:276820 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal raref... |
OMIM:601559 |
Aase-Smith Syndrome |
|
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:916 |
Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Carious teeth, Dental malocclusion, Broad thumb, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology... |
ORPHA:3098 |
Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... |
ORPHA:1801 |
Pycnodysostosis |
|
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... |
ORPHA:763 |
Lethal Recessive Chondrodysplasia |
|
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... |
ORPHA:1423 |
Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Pectus carinatum, Cone-shaped epiphysis, Short distal phalanx of fi... |
ORPHA:77258 |
Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... |
ORPHA:90652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis |
OMIM:619052 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Tessier cleft, Low-set ears, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Absent s... |
OMIM:601357 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So... |
OMIM:602418 |
Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb undergrowth, ... |
ORPHA:314795 |
Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:620482 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradykinesia, Slu... |
OMIM:618317 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia |
OMIM:615524 |
Lujan-Fryns Syndrome |
|
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/H... |
ORPHA:776 |
Arthrogryposis, Distal, Type 12 |
|
Low-set ears, Ankle flexion contracture, Absent distal interphalangeal creases, Spinal rigidity, ... |
OMIM:620545 |
Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
Anauxetic Dysplasia 3 |
|
Broad middle phalanx of finger, Platyspondyly, Narrow chest, Squared iliac bones, Metaphyseal cup... |
OMIM:618853 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal lung lobation, Tracheal stenosis, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Anal a... |
ORPHA:3301 |
Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, F... |
OMIM:617194 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Abnormality of the dentition, Low-set ears, Osteopenia, Downturned c... |
OMIM:615398 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala... |
OMIM:612350 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
Lethal Kniest-Like Dysplasia |
|
Low-set ears, Broad long bones, Talipes equinovarus, Short neck, Anterior rib cupping, Hypoplasti... |
ORPHA:2347 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol... |
ORPHA:2839 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
Larsen-Like Syndrome |
|
Low-set ears, Dental malocclusion, Joint dislocation, Conductive hearing impairment, Recurrent ot... |
OMIM:608545 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Short ribs, Thin upper l... |
OMIM:607143 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... |
ORPHA:240103 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Scarf Syndrome |
|
Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Umbilical hernia, Low-set... |
ORPHA:3134 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... |
ORPHA:1277 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Esopha... |
ORPHA:1018 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist... |
ORPHA:1248 |
Cranioectodermal Dysplasia 1 |
|
Low-set ears, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip v... |
OMIM:218330 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... |
ORPHA:521406 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobility, Microcepha... |
ORPHA:1695 |
Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Edema, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, ... |
OMIM:616570 |
Vacterl/Vater Association |
|
Occipital encephalocele, Tracheal stenosis, Congenital diaphragmatic hernia, Anal atresia, Trache... |
ORPHA:887 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Edema, Long philtrum, Broad long bones, Abnormal foot morphology, Hypoplastic ... |
OMIM:200610 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Reduced bo... |
ORPHA:2501 |
Pelviscapular Dysplasia |
|
Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ... |
ORPHA:93333 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Positive Romb... |
OMIM:607136 |
Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... |
OMIM:147750 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Low-set ears, Delayed cranial suture closure, Cerebral calcification, Micrognathia, Flat occiput,... |
ORPHA:2780 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro... |
OMIM:119600 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ... |
OMIM:259440 |
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Lower limb undergrowth, Microcephaly, Orofacial cleft, Craniosynostosis, Forearm undergrowth |
OMIM:218650 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly |
OMIM:300484 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor |
OMIM:601238 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Pes pla... |
OMIM:620663 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia |
OMIM:618824 |
Craniometadiaphyseal Dysplasia |
|
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum... |
OMIM:269300 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Toe syndactyly, Open bite, Narrow mouth, High palate, Pectus carinatum, Downturned corners of mou... |
ORPHA:1327 |
Hall-Riggs Syndrome |
|
Platyspondyly, Kyphosis, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia o... |
OMIM:234250 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... |
ORPHA:2249 |
Aarskog-Scott Syndrome |
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Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Everted lower lip ver... |
ORPHA:915 |
Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat... |
ORPHA:1388 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pul... |
ORPHA:2140 |
Autosomal Recessive Omodysplasia |
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Low-set ears, Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Frontal bossin... |
ORPHA:93329 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... |
OMIM:271530 |
Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Micromelia, C... |
ORPHA:2635 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Papilloma Of Choroid Plexus |
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Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Acrootoocular Syndrome |
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Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Micrognathia, ... |
ORPHA:2980 |
Syndactyly Type 4 |
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Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... |
ORPHA:52056 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Frontal bossing, Joint stiffn... |
ORPHA:40 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... |
OMIM:190351 |
Achondrogenesis, Type Ia |
|
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... |
OMIM:200600 |
Jawad Syndrome |
|
Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Absent fourth finger dist... |
OMIM:251255 |
Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... |
OMIM:215140 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hearing impairment, Increased bone mineral density, Recurrent fractures, Barrel-shape... |
OMIM:239000 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... |
ORPHA:363417 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... |
OMIM:251450 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... |
ORPHA:411696 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... |
ORPHA:2097 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... |
OMIM:609324 |
Immunodeficiency 12 |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Esophageal stricture |
OMIM:615468 |
Catel-Manzke Syndrome |
|
Low-set ears, Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Talipes... |
OMIM:616145 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Hypoplastic scapulae, Metaphyseal cu... |
ORPHA:85166 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Fetal ascites, Micromelia, Flared metaphysis, Advanc... |
OMIM:215045 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna... |
ORPHA:2491 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Tracheomalacia, Pulmonary hypoplasia |
OMIM:245650 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Parkinsonism, Resting tremor, Rigidity |
OMIM:605909 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Bilateral sensorineural he... |
OMIM:605282 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, High palate, Cleft l... |
OMIM:619110 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... |
ORPHA:199306 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... |
ORPHA:2751 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Long phi... |
OMIM:207410 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert... |
OMIM:609223 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis, Malar flattening, Sensorineural he... |
OMIM:184840 |
Keutel Syndrome |
|
Calcification of cartilage, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Rec... |
ORPHA:85202 |
Achondroplasia |
|
Hearing impairment, Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Fu... |
ORPHA:15 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... |
ORPHA:1350 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Low-set ears, Cerebral hypoplasia, Long philtrum, Intrauterine growth retardation, Micrognathia, ... |
OMIM:257300 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... |
OMIM:156550 |
Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Platyspondyly, Osteopenia, Fractures of the long bones, Equinovarus deformi... |
ORPHA:319195 |
Distal Duplication 5Q |
|
Low-set ears, Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Microcephal... |
ORPHA:96097 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Shuffling gait, Somatic sensory dysfunction, Rigidity, Apraxia, Parkinsonism, Gait di... |
OMIM:221820 |
Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Intrauterine ... |
ORPHA:2319 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Low-set ears, Abnormali... |
ORPHA:163966 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly... |
OMIM:182212 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy |
OMIM:619333 |
Pierpont Syndrome |
|
Hearing impairment, Excessive wrinkling of palmar skin, Short neck, Pes planus, Everted lower lip... |
ORPHA:487825 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus cari... |
ORPHA:582 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath... |
OMIM:210710 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Scarf Syndrome |
|
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Low-set ears, Abnormal f... |
OMIM:312830 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... |
ORPHA:391411 |
Mietens-Weber Syndrome |
|
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... |
OMIM:249600 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Torticoll... |
OMIM:619862 |
Huntington Disease |
|
Chorea, Gait ataxia, Bradykinesia, Rigidity |
OMIM:143100 |
Donnai-Barrow Syndrome |
|
Low-set ears, Hearing impairment, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, In... |
OMIM:222448 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia |
OMIM:617384 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Malar flattening, Microcephaly, Ta... |
ORPHA:85172 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Pulmonary ... |
OMIM:601163 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec... |
OMIM:271665 |
Alagille Syndrome |
|
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Intrauterine growth retard... |
ORPHA:52 |
Van Maldergem Syndrome 1 |
|
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... |
OMIM:601390 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... |
ORPHA:2141 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... |
ORPHA:93346 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encepha... |
ORPHA:1865 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:607326 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Shuffling gait, Falls, Parkinsonism, Bradykinesia |
ORPHA:412066 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... |
OMIM:258315 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge... |
OMIM:253000 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... |
OMIM:184255 |
Pde4D Haploinsufficiency Syndrome |
|
Hearing impairment, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Sh... |
ORPHA:439822 |
Muenke Syndrome |
|
Broad thumb, Clinodactyly, Hearing impairment, Recurrent otitis media, Thimble-shaped middle phal... |
OMIM:602849 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... |
OMIM:617967 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Hearing impairment, Genu valgum, Intervertebral space narrowing, Re... |
ORPHA:166011 |
Orofaciodigital Syndrome Vi |
|
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus cal... |
OMIM:277170 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cerebral cortical atrophy, Tooth malposition, Ulnar deviation of finger, Low-set, posteriorly rot... |
ORPHA:1387 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Hearing impairment, Cleft mandible, Everted lower lip vermilion, Pierre-Robin sequence, Abnormali... |
ORPHA:364577 |
Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Long philtrum, Umbilical hernia, Abnormal enchondral ossification, Macr... |
ORPHA:93299 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Low-set ears, Plagiocephaly, Cervical ribs, Intestinal malrotation, Micrognathia, Increased nucha... |
ORPHA:77300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Toe syndactyly, Elbow flexion contracture, Large earlobe, Polyhydramnios, Death in ch... |
OMIM:616809 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr... |
ORPHA:99642 |
Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog... |
ORPHA:63446 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Sprengel ... |
ORPHA:1520 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... |
OMIM:184250 |
Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Intrauterine growth retardation, Uln... |
ORPHA:1765 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Low-set ears, Small hand, Unilateral cleft lip, Finger syndactyly, Abnormal ... |
ORPHA:1787 |
Achondrogenesis Type 1B |
|
Narrow chest, Micromelia, Long philtrum, Umbilical hernia, Abnormal rib morphology, Macrocephaly,... |
ORPHA:93298 |
Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Thor... |
OMIM:114300 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Low-set ears, Angel-shaped phalanx, Narrow chest, Carious teeth, Short distal phalanx of finger, ... |
OMIM:617102 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia |
ORPHA:71517 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Hypoplasia of the corpus callosum, B... |
OMIM:300232 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Cupped ear, Anteriorly placed anus, Intrauterine growth retardation, Micrognathia, Hearing abnorm... |
ORPHA:1352 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... |
OMIM:608154 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Ma... |
ORPHA:2145 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ankle flexion contracture, Arthrogryposis multiplex congenita, Elbow flexion contracture, Knee fl... |
OMIM:617468 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Micrognathia, Genu valgum, Ma... |
ORPHA:250984 |
Distal Deletion 17Q |
|
Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop... |
ORPHA:1597 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A... |
OMIM:615777 |
Parkinsonism With Polyneuropathy |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:619279 |
Martsolf Syndrome 1 |
|
Low-set ears, Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, ... |
OMIM:212720 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Hearing impairment, Condu... |
OMIM:616229 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypopl... |
ORPHA:457395 |
ERI1-related disease |
|
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finge... |
OMIM:608739 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia |
OMIM:615228 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Abnormal tracheobronchial morph... |
ORPHA:1790 |
Juvenile Huntington Disease |
|
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progressive cer... |
ORPHA:248111 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... |
ORPHA:93351 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... |
ORPHA:101150 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Sensorineural hearing impairment, B... |
OMIM:215150 |
Rhyns Syndrome |
|
Osteopenia, Conductive hearing impairment, Radial bowing, Sensorineural hearing impairment, Thick... |
OMIM:602152 |
Anauxetic Dysplasia 1 |
|
Atlantoaxial dislocation, Barrel-shaped chest, Hip contracture, Short neck, Short foot, Hypoplast... |
OMIM:607095 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Schwartz-Jampel Syndrome, Type 1 |
|
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... |
OMIM:255800 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Frontal bossing... |
OMIM:264180 |
Ulnar Hypoplasia With Impaired Intellectual Development |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
Pierpont Syndrome |
|
Hearing impairment, Large fleshy ears, Broad foot, Short neck, Everted lower lip vermilion, Promi... |
OMIM:602342 |
Jackson-Weiss Syndrome |
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Hypoplasia of the maxilla, Toe syndactyly, Frontal bossing, Preaxial foot polydactyly, Split foot... |
ORPHA:1540 |
Diamond-Blackfan Anemia 11 |
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Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ... |
OMIM:614900 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ... |
ORPHA:93262 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
Slc35A2-Cdg |
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Short tibia, Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Cerebral white ... |
ORPHA:356961 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
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Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
Fibrochondrogenesis 2 |
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Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... |
OMIM:614524 |
Dysspondyloenchondromatosis |
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Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Joint dislocation, Cerebral calcif... |
ORPHA:85198 |
Osteogenesis Imperfecta, Type Iii |
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Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Hearing impairment, Frontal bo... |
OMIM:259420 |
Femoral-Facial Syndrome |
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Low-set ears, Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Agenesis of c... |
OMIM:134780 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Hypoplasia of the maxilla, Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abn... |
ORPHA:1307 |
Cornelia De Lange Syndrome 2 |
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Small hand, Downturned corners of mouth, Clinodactyly, Intrauterine growth retardation, Micrognat... |
OMIM:300590 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Bradykinesia, Spastic tetraplegia |
OMIM:615643 |
Mesomelia-Synostoses Syndrome |
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Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u... |
ORPHA:2496 |
Orofaciodigital Syndrome Ix |
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Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Microcephaly, ... |
OMIM:258865 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Abnormal motor neuron morphology |
DECIPHER:29 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... |
ORPHA:3201 |
Trichorhinophalangeal Syndrome Type 2 |
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Abnormality of the dentition, Joint dislocation, Conductive hearing impairment, Long philtrum, Lo... |
ORPHA:502 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Platyspondyly, Low-set ears, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar h... |
OMIM:612813 |
Osteogenesis Imperfecta, Type V |
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Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver... |
OMIM:610967 |
Mesomelic Dysplasia, Savarirayan Type |
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High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
Orofaciodigital Syndrome Type 5 |
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Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... |
ORPHA:2919 |
Craniodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Conductive hearing impairment, Macrocephaly, Stenosis of the external ... |
ORPHA:1513 |
Camptosynpolydactyly, Complex |
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Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
Orofaciodigital Syndrome X |
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Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... |
OMIM:165590 |
Coffin-Lowry Syndrome |
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Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, O... |
ORPHA:192 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Hypoplastic iliac wing, Sensorineural hearing impairment, Pes planus, Beaking of vertebral bodies... |
OMIM:609616 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Falls, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradyki... |
ORPHA:240085 |
Pentasomy X |
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Small hand, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognath... |
ORPHA:11 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Protruding ear, Microcephaly, T... |
ORPHA:85279 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Arthrogryposis multiplex... |
OMIM:616867 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Postaxial polysyndactyly of foot, Cerebellar vermis hypoplasia, Pectus carinatum, Polysyndactyly ... |
OMIM:263520 |
Edinburgh Malformation Syndrome |
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Hydrocephalus, Death in infancy |
OMIM:129850 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Syndactyly... |
OMIM:614701 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Pulmonary hypoplasia |
OMIM:613124 |
Stickler Syndrome Type 1 |
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Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... |
ORPHA:90653 |
Holt-Oram Syndrome |
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Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn... |
OMIM:142900 |
Endocrine-Cerebroosteodysplasia |
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Low-set ears, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Micrognathia, Fibular... |
OMIM:612651 |
Acromesomelic Dysplasia 2B |
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Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Congenital Myopathy 1B, Autosomal Recessive |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
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Bradykinesia, Lower limb spasticity |
OMIM:618878 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Pectus carinatum, Narrow chest, Hypoplasia of the maxilla, Long foot, Long palm, Macrocephaly, Pe... |
OMIM:300676 |
Meier-Gorlin Syndrome 1 |
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Thin ribs, Low-set ears, Small hand, Joint contracture of the hand, Elbow dislocation, Hearing im... |
OMIM:224690 |
Anaplastic Thyroid Carcinoma |
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Laryngotracheal stenosis, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Dysphag... |
ORPHA:142 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
Anauxetic Dysplasia 2 |
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Posterior wedging of vertebral bodies, Cervical spine instability, Intrauterine growth retardatio... |
OMIM:617396 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Bradykinesia |
ORPHA:306669 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Caribbean Parkinsonism |
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