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 |
Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... |
ORPHA:166016 |
Atelosteogenesis, Type Iii |
|
Cleft palate, Horizontal sacrum, Tombstone-shaped proximal phalanges, Short neck, Rhizomelia, Hyp... |
OMIM:108721 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizome... |
OMIM:601560 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Dumbbell-shaped l... |
OMIM:228520 |
Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... |
OMIM:108720 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Tracheobronchmegaly, Bronchitis, Tracheal stenosis, Pneumo... |
ORPHA:3347 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Abnormal pinna morphology, Short metacarpal, Cleft palate, Arthralgia of the hip, Ab... |
ORPHA:93307 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hi... |
OMIM:304120 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... |
OMIM:224300 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Radioulnar synostosis, Midface retrusion, Elbow dislocation, Anterior vertebral fusion, Microtia,... |
OMIM:171480 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Tracheobronchopathia Osteochondroplastica |
|
Abnormal tracheobronchial morphology, Calcification of cartilage, Bronchitis, Tracheal stenosis, ... |
ORPHA:3348 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... |
OMIM:227270 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... |
OMIM:154780 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Ab... |
OMIM:164900 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radia... |
ORPHA:1972 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Irregular vertebral endplates, Flexion contracture, Micrognathia, Osteopenia, Short ... |
OMIM:222765 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Platyspondyly, Short neck, Intrauterine growth retardation, Thoracic hy... |
OMIM:616897 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Microgna... |
OMIM:201170 |
Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Abnormal pinna morphology, Cleft... |
OMIM:210600 |
Femoral-Facial Syndrome |
|
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Vertebral segmentation def... |
ORPHA:1988 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... |
ORPHA:2616 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Kyphomelic Dysplasia |
|
Cleft palate, Femoral bowing, Platyspondyly, Micromelia, Pterygium, Dumbbell-shaped humerus, Thor... |
OMIM:211350 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral bowing, Decreased calvarial ossification, Osteopenia, Platyspondyly, Barrel-shaped chest,... |
OMIM:610915 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Microcephaly-Micromelia Syndrome |
|
Cleft palate, Craniosynostosis, Short neck, Micromelia, Simplified gyral pattern, Intrauterine gr... |
OMIM:251230 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Pectus excavatum, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Hypoplasia of t... |
OMIM:268310 |
Acrodysostosis |
|
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... |
ORPHA:950 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... |
ORPHA:56304 |
Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... |
OMIM:311450 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... |
ORPHA:958 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor |
OMIM:168100 |
Eiken Syndrome |
|
Short philtrum, Broad ribs, Multiple unerupted teeth, Midface retrusion, Thick lower lip vermilio... |
OMIM:600002 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Platyspondyly, Micromelia, Sh... |
OMIM:256050 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... |
ORPHA:3035 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Vertebral wedging, Short ribs, Dolichocephaly, Micrognathia, D... |
OMIM:617866 |
Tracheal Agenesis |
|
Tracheal atresia, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... |
OMIM:619636 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau... |
OMIM:210720 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... |
OMIM:271700 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... |
ORPHA:93316 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Campomelic Dysplasia |
|
High palate, Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Shor... |
OMIM:114290 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Uppe... |
ORPHA:94068 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Single transverse palmar crease, Sandal gap, Cleft upper lip, Talipes ... |
OMIM:206920 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Bradykinesia, Lower limb hypertonia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Ba... |
ORPHA:100984 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Bilateral conductiv... |
OMIM:186500 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... |
OMIM:304950 |
Schneckenbecken Dysplasia |
|
Macrocephaly, Cleft palate, Short neck, Micromelia, Abnormal metaphysis morphology, Dumbbell-shap... |
ORPHA:3144 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... |
ORPHA:2563 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Platyspondyly, Abnormality of fibula morphology, Rhizomelia, ... |
ORPHA:1190 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Sensorineural hearing impairment, Cleft palate, Short femur, Glossoptosis, Microgna... |
ORPHA:440354 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microd... |
OMIM:258850 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Postural tremor |
ORPHA:210571 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... |
ORPHA:3258 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... |
OMIM:619135 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia |
ORPHA:2703 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Short neck, 11 pa... |
ORPHA:140 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pa... |
OMIM:271640 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl... |
OMIM:612447 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Tarp Syndrome |
|
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... |
OMIM:311900 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the dentition, Microcephaly, Scoliosis, Pectus car... |
ORPHA:3268 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... |
OMIM:601561 |
W Syndrome |
|
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... |
ORPHA:2804 |
Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Mid... |
OMIM:618019 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Conductive hearing impairment, Talipes equinov... |
OMIM:602471 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... |
ORPHA:2879 |
Mohr Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... |
OMIM:252100 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Intrauterine growth retardation, Talipes equino... |
ORPHA:1788 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Pectus excavatum, Macrocephaly, Cleft palate, Overfolded helix, Broad ribs, Delayed ... |
OMIM:300373 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Cleft palate, Decreased calvarial ossification, Short neck, Long thora... |
OMIM:617925 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... |
OMIM:607143 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Hypoplasia of the radius, Short neck, Wafer-thin platyspondyly, Hypoplasia of the corpus callosum... |
OMIM:602613 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor |
OMIM:600116 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... |
OMIM:156510 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Malar flattening, Everted lower lip vermilion, Microtia, Micrognathia, Long philtrum, Hypoplasia ... |
ORPHA:357175 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Pectus excavatum, Horizontal sacrum, Pectus carinatum, Twelfth rib hypoplasia, Midfa... |
OMIM:211910 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Bilateral lung agenesis |
OMIM:601612 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Malar flattening, Everted lower lip vermilion, Microtia, Micrognathia, Long philtrum, Downturned ... |
OMIM:615162 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Hypoplasia of the maxilla,... |
ORPHA:1106 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Patellar dislocation, Clinodactyly of the 5th finge... |
ORPHA:3320 |
Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Aplasia of the ulna, Narrow mouth, Abnormal pinna morphology, Short sternum, Talipes... |
OMIM:266910 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... |
OMIM:618363 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
OMIM:609161 |
Turnpenny-Fry Syndrome |
|
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Tapered ... |
OMIM:618371 |
Cleidocranial Dysplasia |
|
Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio... |
ORPHA:1452 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges o... |
OMIM:277150 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Scoliosis, Short femoral neck, Biconcave vertebral bo... |
OMIM:610319 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... |
OMIM:164745 |
Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosi... |
ORPHA:2790 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Shor... |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... |
OMIM:613091 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Macrocephaly, Cleft palate, Overfolded helix, Cerebral calcificatio... |
ORPHA:628 |
Acrorenal-Mandibular Syndrome |
|
High palate, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna,... |
OMIM:200980 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Frontal bossing, Postaxial oligod... |
OMIM:608571 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Platyspondyly, Short neck, Anisospondyly, Hemiatrophy ... |
ORPHA:163649 |
Autosomal Dominant Omodysplasia |
|
Malar flattening, Micrognathia, Short 1st metacarpal, Short humerus, Long philtrum, Frontal bossi... |
ORPHA:93328 |
Orofaciodigital Syndrome Type 10 |
|
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly... |
ORPHA:2756 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... |
ORPHA:2631 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Macrocephaly, Short neck, Long phil... |
OMIM:157980 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy |
OMIM:616410 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Femoral bowing, ... |
OMIM:600920 |
Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... |
OMIM:300602 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... |
ORPHA:93267 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth re... |
ORPHA:1505 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Greenberg Dysplasia |
|
Narrow chest, Calvarial skull defect, Anterior rib punctate calcifications, Abnormal bone ossific... |
ORPHA:1426 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Protruding ear, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges... |
ORPHA:2256 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspondyly, Micromelia, Dela... |
OMIM:184260 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Thanatophoric Dysplasia Type 1 |
|
Macrocephaly, Femoral bowing, Platyspondyly, Micromelia, Bowing of the long bones, Abnormal metap... |
ORPHA:1860 |
Schneckenbecken Dysplasia |
|
Macrocephaly, Cleft palate, Platyspondyly, Nonimmune hydrops fetalis, Short neck, Ovoid vertebral... |
OMIM:269250 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... |
ORPHA:101110 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Cousin Syndrome |
|
Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Clinoda... |
OMIM:260660 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Cleft palate, Malar flattening, Hyp... |
ORPHA:246 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Kinsship Syndrome |
|
Wide mouth, Osteopenia, Short philtrum, Short neck, Single transverse palmar crease, Primary micr... |
OMIM:619297 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... |
OMIM:147891 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... |
ORPHA:1427 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220200 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Dolichocephaly, Finger cli... |
ORPHA:3352 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... |
ORPHA:2878 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea |
OMIM:618317 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... |
OMIM:300431 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scol... |
ORPHA:1248 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Odontochondrodysplasia |
|
Narrow chest, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Micr... |
ORPHA:166272 |
Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Cerebellar dysplasia, Ventriculomegaly |
OMIM:604213 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... |
OMIM:263540 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal pinna morphology, Femoral bowing, Platyspondyly, 11 pairs of ribs, Micromelia, Long foot... |
OMIM:210710 |
Marshall-Smith Syndrome |
|
High palate, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip pads, Craniosyn... |
OMIM:602535 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... |
OMIM:618418 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Microcephaly, Edema, Rocker bottom foot, Arthrog... |
OMIM:616570 |
Langer Mesomelic Dysplasia |
|
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... |
ORPHA:2632 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Barrel-shaped chest, Short neck, Delayed eruption of teeth, Microdontia, Hypoplasia ... |
OMIM:143095 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... |
OMIM:608940 |
Cerebrocostomandibular Syndrome |
|
High palate, Rib gap, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs,... |
OMIM:117650 |
Dysostosis, Stanescu Type |
|
Pectus excavatum, Cerebral calcification, Abnormality of the dentition, Short neck, Micromelia, C... |
ORPHA:1798 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Cleft palate, Cerebral calcification, Delayed eruption of teeth, Abnormal metaphysi... |
ORPHA:2780 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Temple Syndrome |
|
High palate, Recurrent otitis media, Relative macrocephaly, Cleft palate, Flexion contracture, Sm... |
OMIM:616222 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Pectus excavatum, Cerebral atrophy, Cleft palate, Postaxial... |
OMIM:258860 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... |
OMIM:309350 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Hydrocephalus With Associated Malformations |
|
Intestinal malrotation, Hydrocephalus, Pulmonary hypoplasia |
OMIM:236640 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture, Arthrogrypo... |
OMIM:616531 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Codas Syndrome |
|
Congenital hip dislocation, Delayed eruption of teeth, Crumpled ear, Hypoplasia of the corpus cal... |
OMIM:600373 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Protruding ear, Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalan... |
OMIM:190351 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Brachyturricephaly, Polymicrogyria, Hypoplas... |
OMIM:218600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia |
OMIM:619052 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Ham... |
ORPHA:2752 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Midface retrusion,... |
OMIM:119600 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Conductive hearing impairment, Pectus excavatum, Malar flattening, Cleft palate,... |
OMIM:263750 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr... |
OMIM:616583 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Pectus excavatum, Short sternum, Cleft palate, Single transverse p... |
ORPHA:2886 |
Ulbright-Hodes Syndrome |
|
High palate, Aplasia/Hypoplasia of the ulna, Abnormal pinna morphology, Short sternum, Hypoplasia... |
ORPHA:3404 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo... |
OMIM:122470 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Otoonychoperoneal Syndrome |
|
Hip contracture, Abnormality of the ear, Low-set ears, Dolichocephaly, Aplasia/Hypoplasia of the ... |
OMIM:259780 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... |
ORPHA:763 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morphology... |
ORPHA:1277 |
Corticobasal Syndrome |
|
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Prominent sternum, Platyspondyly, Short neck, Hypoplasia of the corpus callosum, Con... |
OMIM:300232 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... |
OMIM:274000 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Pectus excavatum, Macrocephaly, Cerebral atrophy, Abnormality of the dentition, Ankl... |
OMIM:615398 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... |
ORPHA:1801 |
Aase-Smith Syndrome |
|
Joint stiffness, Multiple joint contractures, Abnormal pinna morphology, Talipes equinovarus, Sle... |
ORPHA:916 |
Atelosteogenesis Type Iii |
|
High palate, Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation,... |
ORPHA:56305 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Short distal phalanx of finger, Abnormality of the tongue, Wide anterior fontanel, K... |
ORPHA:3098 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
High palate, Abnormal pinna morphology, Prominent sternum, Elbow ankylosis, Hypoplasia of the rad... |
OMIM:276820 |
Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... |
ORPHA:949 |
Lethal Recessive Chondrodysplasia |
|
Narrow chest, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Polyhydramnios, Generaliz... |
ORPHA:1423 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... |
OMIM:251450 |
Anauxetic Dysplasia 3 |
|
Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala... |
OMIM:618853 |
Lethal Kniest-Like Dysplasia |
|
Macrocephaly, Cleft palate, Platyspondyly, Short neck, Abnormal cartilage morphology, Talipes equ... |
ORPHA:2347 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... |
ORPHA:2501 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Craniosynostosis, Microcephaly, Oral cleft, Lower limb undergrowth |
OMIM:218650 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Sensorineural hearing impairment, Epiphyseal dysplasia, Cleft palate, Malar flattening, Platyspon... |
OMIM:184840 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Pursed lips, Femoral bowing, Short neck, Carious teeth, Ulnar deviation of finge... |
OMIM:601559 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... |
OMIM:612350 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Cleft palate, Bowing of the long bones, Encephalocele, Elbow dislocati... |
ORPHA:90652 |
Scarf Syndrome |
|
Short sternum, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the vertebral bodies... |
ORPHA:3134 |
Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Pectus excavatum, Macrocephaly, Arachnodactyly, Abnormality of the d... |
ORPHA:776 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
High palate, Short distal phalanx of finger, Protruding ear, Clinodactyly of the 5th finger, Supe... |
ORPHA:77258 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Wide anterior fontanel, Macrocephaly, Coxa valga, Parietal bossing, Malar flattening... |
ORPHA:85184 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip |
OMIM:300484 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsal bones, Midfa... |
OMIM:215150 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Congenital hip dislocation, Down-sloping shoulders, ... |
OMIM:114300 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Macrocephaly, Short femur, Ste... |
ORPHA:93333 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Craniometadiaphyseal Dysplasia |
|
High palate, Macrocephaly, Osteopenia, Microdontia, Carious teeth, Genu valgum, Broad ribs, Mandi... |
OMIM:269300 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of the ear, Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, M... |
ORPHA:2511 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Hyp... |
OMIM:234250 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, Talipes equinova... |
ORPHA:2839 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... |
ORPHA:2635 |
Shox-Related Short Stature |
|
High palate, Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum... |
ORPHA:314795 |
Tetraamelia-Multiple Malformations Syndrome |
|
Anal atresia, Hydrocephalus, Abnormal lung lobation, Tracheal stenosis, Aplasia/Hypoplasia of the... |
ORPHA:3301 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... |
ORPHA:915 |
Cranioectodermal Dysplasia 1 |
|
High palate, Pectus excavatum, Microdontia, Single transverse palmar crease, Sagittal craniosynos... |
OMIM:218330 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait |
OMIM:128235 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Narrow chest, Wide anterior fontanel, Abnormal pinna morphology, Malar flattening, Flexion contra... |
OMIM:207410 |
Greenberg Dysplasia |
|
Macrocephaly, Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platy... |
OMIM:215140 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Scissor gait... |
ORPHA:521406 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial o... |
OMIM:259440 |
Vacterl/Vater Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Anencepha... |
ORPHA:887 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Premature loss of teeth, Recurrent fractures, Kyphosis, Macroce... |
OMIM:239000 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, ... |
ORPHA:2249 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... |
ORPHA:1350 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial d... |
OMIM:616331 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Long ... |
ORPHA:93329 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Kniest Dysplasia |
|
Enlarged joints, Pectus excavatum, Cleft palate, Platyspondyly, Short neck, Hypoplastic pelvis, R... |
OMIM:156550 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal neoplasm, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal t... |
ORPHA:1018 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Short sternum, Malar flat... |
OMIM:222448 |
Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Malar flattening, Cleft palate... |
ORPHA:1388 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... |
ORPHA:52056 |
Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
Acrootoocular Syndrome |
|
Pectus excavatum, Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Sand... |
ORPHA:2980 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar ... |
OMIM:605282 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Conductive hearing impairment, Lumbar hyperlordosis, M... |
OMIM:100800 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Low-set ears, Metaphyseal cupping, Malar flattening... |
ORPHA:85166 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Brachyd... |
ORPHA:40 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Stickler Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Platyspondyly, Midface retrusion, Joint stiffness, Spondylolisthe... |
OMIM:108300 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Tented upper... |
OMIM:601390 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity |
OMIM:618824 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Low-set ears, Thin ribs, Micrognathia, Short philtrum, Platyspondyly, Cerebellar hypo... |
ORPHA:163966 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... |
OMIM:609324 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy |
OMIM:615268 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Absent septum pellucidum, Scoliosis, Amelia, Anterior encephalocele... |
OMIM:601357 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Microcephaly, Short humerus, Micromelia, Abnormality of the elbow... |
ORPHA:2491 |
Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia... |
ORPHA:1787 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum |
OMIM:184800 |
Diamond-Blackfan Anemia 11 |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Stenosis of the external auditory canal, Ra... |
OMIM:614900 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Kyphoscoliosis, ... |
OMIM:264475 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... |
ORPHA:3201 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Malar flattening, Small ... |
ORPHA:85172 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Short philtrum, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Cauda... |
ORPHA:439822 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Macrocephaly, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinat... |
ORPHA:582 |
Chondroectodermal Dysplasia With Night Blindness |
|
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Oti... |
ORPHA:319195 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Dandy-Walker malformation, Hypoplasia of the radius, Microcephaly, Scolios... |
ORPHA:2319 |
Kniest-Like Dysplasia, Lethal |
|
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Broad ribs, Dumbb... |
OMIM:245190 |
Jackson-Weiss Syndrome |
|
Preaxial foot polydactyly, 2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx... |
ORPHA:1540 |
Scarf Syndrome |
|
Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Short neck, Long philtrum, Abnormal... |
OMIM:312830 |
Distal Trisomy 5Q |
|
Narrow mouth, Absent thumb, Craniosynostosis, Thin vermilion border, Micrognathia, Hypoplasia of ... |
ORPHA:96097 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Tracheal stenosis, Intestinal atresia |
ORPHA:93941 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Talipe... |
OMIM:200600 |
Smith-Mccort Dysplasia 1 |
|
Prominent sternum, Barrel-shaped chest, Platyspondyly, Genu valgum, Metaphyseal irregularity, Dol... |
OMIM:607326 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... |
OMIM:614701 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Tented upper... |
OMIM:615546 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... |
ORPHA:2140 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Macrocephaly, Multiple rib fractures, Micrognathia, Hydrops fe... |
ORPHA:93299 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Jawad Syndrome |
|
Postaxial polydactyly, Retrognathia, Single interphalangeal crease of fifth finger, Absent fourth... |
OMIM:251255 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Macrocephaly, Cleft palate, Umbilical hernia, Intrauterine growth retardation, Micro... |
OMIM:600325 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy |
OMIM:619333 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Omodysplasia 1 |
|
Short neck, Rhizomelia, Umbilical hernia, Anterolateral radial head dislocation, Increased fibula... |
OMIM:258315 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Achondrogenesis Type 1B |
|
Narrow chest, Macrocephaly, Talipes equinovarus, Micrognathia, Hydrops fetalis, Long philtrum, Mi... |
ORPHA:93298 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Microdontia, Aplasia/Hypoplasia of the radius, Madelung deformity, Uln... |
ORPHA:1765 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Open bite, Abnormality of the glenoid fossa, M... |
ORPHA:2097 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Bradykinesia, Parkinsonism, Rigidity, Gait disturbance, Somatic sensory dysfunction, Shuffling ga... |
OMIM:221820 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... |
OMIM:249600 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy |
OMIM:617769 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... |
ORPHA:2751 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft palate, Abnormality of canine, Tented upper lip vermilion, Intrauterine growth retardation,... |
ORPHA:364577 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic tetraplegia |
OMIM:615643 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... |
OMIM:619862 |
Cohen Syndrome |
|
Thick corpus callosum, Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, ... |
OMIM:216550 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... |
OMIM:184250 |
Huntington Disease |
|
Rigidity, Gait ataxia, Bradykinesia, Chorea |
OMIM:143100 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... |
ORPHA:79113 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... |
ORPHA:166011 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, M... |
OMIM:611209 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Coxa vara, Narrow chest, Pectus excavatum, Abnormal femoral nec... |
ORPHA:63446 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Osteopenia, Brachytur... |
OMIM:182212 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Hip subluxation, Dysplasia of the femoral head, Abnormality... |
ORPHA:99642 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Brachycephaly, Intrauterine growth retardation, Cerebral hypoplasia, Short sternum, Triangular mo... |
OMIM:257300 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Relative macrocephaly, Malar flattening, Metaphyseal widening, Barrel-shape... |
OMIM:612813 |
Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Protruding ear, Clinodactyly of th... |
ORPHA:52 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Talipes equinovarus, Malar flattening, Micrognathia, Tongue-like lumbar ver... |
OMIM:264180 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Conductive hearing impairment, Tooth agenesis, Microretrognath... |
OMIM:616229 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Pectus carinatum,... |
OMIM:184255 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia |
OMIM:245650 |
Trichorhinophalangeal Syndrome Type 2 |
|
Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Protruding ear... |
ORPHA:502 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Brachydactyly, Scol... |
OMIM:182290 |
Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Platyspondyly, ... |
OMIM:615777 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Larsen-Like Syndrome |
|
Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus,... |
OMIM:608545 |
Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beakin... |
OMIM:253000 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
Distal Monosomy 17Q |
|
Narrow mouth, Abnormal hip bone morphology, Small hand, Microtia, Prominent metopic ridge, Aplasi... |
ORPHA:1597 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Malar flattening, Abnormal sacrum morphology, Brachydactyly, Abnor... |
ORPHA:93262 |
Femoral-Facial Syndrome |
|
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... |
OMIM:134780 |
Achondroplasia |
|
Macrocephaly, Rhizomelia, Thoracic hypoplasia, Short long bone, Spinal canal stenosis, Parietal b... |
ORPHA:15 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism, Falls, Shuffling gait, Short stepped shuffling gait |
ORPHA:412066 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Pterygium, Encephalocele, Short... |
ORPHA:1865 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Attached earlobe, Pectus carinatum, Mandibular prognathia, Midface... |
ORPHA:1327 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the ear, Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatars... |
ORPHA:457395 |
Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Tripha... |
OMIM:604757 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Sensorineural hearing impairment, Cleft pala... |
ORPHA:250984 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormality of the... |
OMIM:601163 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Kyphosis, Short humerus... |
ORPHA:420794 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis |
OMIM:261640 |
Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, ... |
OMIM:253010 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Abnormal rib cage mor... |
OMIM:608154 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
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Broad phalanx, Micrognathia, Prominent metopic ridge, Broad metatarsal, Brachycephaly, Trigonocep... |
OMIM:275595 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:605909 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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High palate, Sensorineural hearing impairment, Narrow mouth, Conductive hearing impairment, Micro... |
ORPHA:1307 |
Epiphyseal Dysplasia, Multiple, 2 |
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Epiphyseal dysplasia, Tooth agenesis, Hip dysplasia, Irregular epiphyses, Flattened epiphysis, Ge... |
OMIM:600204 |
Premature Aging Syndrome, Penttinen Type |
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Sensorineural hearing impairment, Thin vermilion border, Thin calvarium, Micrognathia, Osteopenia... |
OMIM:601812 |
Craniosynostosis, Herrmann-Opitz Type |
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Abnormal antihelix morphology, Brachycephaly, Cleft palate, Craniosynostosis, Malar flattening, M... |
ORPHA:2145 |
Non-Distal Trisomy 10Q |
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High palate, Pectus excavatum, Everted lower lip vermilion, Micrognathia, Microcephaly, Scoliosis... |
ORPHA:1695 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Cleft palate, Platyspondyly, Pectus carinatum, Pachygyria, Short long bone, Short ribs, Hydrops f... |
OMIM:263520 |
Chondrodysplasia, Blomstrand Type |
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Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... |
OMIM:215045 |
Mesomelia-Synostoses Syndrome |
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Abnormality of femur morphology, Micromelia, Abnormality of the ankles, Abnormality of the humeru... |
ORPHA:2496 |
Diastrophic Dysplasia |
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Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Ulnar Hypoplasia With Mental Retardation |
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Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Osteofibrous Dysplasia, Susceptibility To |
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Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Osteogenesis Imperfecta, Type Iii |
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Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Kyphosis, ... |
OMIM:259420 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
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Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
Anauxetic Dysplasia 1 |
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Barrel-shaped chest, Platyspondyly, Short neck, Microdontia, Rhizomelia, Small epiphyses, Cervica... |
OMIM:607095 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Anal atresia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Microtia, Microgna... |
ORPHA:1352 |
Autosomal Recessive Dopa-Responsive Dystonia |
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Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural tre... |
ORPHA:101150 |
Martsolf Syndrome 1 |
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High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... |
OMIM:212720 |
Achondrogenesis Type 2 |
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Narrow chest, Delayed pubic bone ossification, Abnormal bone ossification, Unossified sacrum, Del... |
ORPHA:93296 |
Juvenile Huntington Disease |
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Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
Pineocytoma |
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Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
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High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Microgna... |
ORPHA:576283 |
Woolly Hair, Autosomal Dominant |
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Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Mucopolysaccharidosis, Type Ix |
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Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... |
OMIM:601492 |
Schwartz-Jampel Syndrome, Type 1 |
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High palate, Pursed lips, Overfolded helix, Congenital hip dislocation, Micromelia, Platyspondyly... |
OMIM:255800 |
Dysspondyloenchondromatosis |
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Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Orofaciodigital Syndrome Ix |
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High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Mi... |
OMIM:258865 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxil... |
ORPHA:2776 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
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High palate, Hip contracture, Large earlobe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, ... |
OMIM:616809 |
Saul-Wilson Syndrome |
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Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... |
OMIM:618150 |
Anauxetic Dysplasia 2 |
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Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Macroglossia, Coxa valga, F... |
OMIM:617396 |
Orofaciodigital Syndrome X |
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Hand oligodactyly, Cleft palate, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Prea... |
OMIM:165590 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Schinzel-Giedion Midface Retraction Syndrome |
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Short sternum, Short 1st metacarpal, Short neck, Metopic suture patent to nasal root, Hypoplasia ... |
OMIM:269150 |
Ectodermal Dysplasia 9, Hair/Nail Type |
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Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
Oculofaciocardiodental Syndrome |
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Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... |
ORPHA:2712 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
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Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism |
OMIM:617384 |
Craniodiaphyseal Dysplasia |
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Conductive hearing impairment, Craniofacial hyperostosis, Macrocephaly, Stenosis of the external ... |
ORPHA:1513 |
Camptosynpolydactyly, Complex |
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Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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High palate, Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthro... |
OMIM:617468 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Abnormal motor neuron morphology |
DECIPHER:29 |
Stickler Syndrome Type 1 |
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Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... |
ORPHA:90653 |
Uncombable Hair Syndrome 3 |
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Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Meier-Gorlin Syndrome 1 |
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High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia, Pectus carinatum, Ge... |
OMIM:224690 |
Fryns Macrocephaly |
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