| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... |
ORPHA:750 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor, Seizure, Cerebellar hypoplasia, Scoliosis |
OMIM:213000 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Seizure, Upper ... |
OMIM:611225 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Short stature, Ataxia, Tr... |
OMIM:610185 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Lumbar hyperlordosis, Short stature, Ataxia, Microcephaly, Kyphosis, Hip d... |
OMIM:616756 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Kyphosis, Small hand, Abnormal pyramidal sign, Short foot, Ankle clon... |
OMIM:617435 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short... |
ORPHA:40 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Microcephaly, Kyphosis, Small hand, Hip dislocation, Short foot, Seizure, Talipes ... |
OMIM:300434 |
| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Short... |
ORPHA:63446 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ... |
OMIM:607317 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... |
OMIM:614078 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Seizure, Scoliosis |
OMIM:300518 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizur... |
ORPHA:330050 |
| Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Histiocytosis |
OMIM:235900 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Bi... |
ORPHA:2590 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, Microcephaly, Kyphosis, P... |
OMIM:611890 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Acne, Short stature, Rhizomelia, Short neck, Abnormality of the humerus,... |
ORPHA:3098 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Congenital bilateral hip dislocation, Seizure, Talipes equinovarus |
ORPHA:85288 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal... |
OMIM:620269 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... |
OMIM:614561 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Masa Syndrome |
|
Lower limb spasticity, Short stature, Microcephaly, Hyperlordosis, Kyphosis, Spastic paraplegia, ... |
OMIM:303350 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
| Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of... |
OMIM:169400 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Short stature, Enlarged joints, Bowing of the legs, Disproportionate short-... |
ORPHA:156728 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... |
OMIM:613330 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized my... |
ORPHA:36387 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Short neck, Elbow flexion contracture... |
OMIM:616809 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
| Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev... |
ORPHA:1240 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Eczema, Ataxia, Kyphosis, Hip dysplasia, Tongue fasciculations, Progressive microc... |
OMIM:620007 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... |
ORPHA:521406 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Microcephaly, K... |
OMIM:301900 |
| Diastrophic Dysplasia |
|
Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting... |
ORPHA:628 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Short stature, Ataxia, Kyphosis, Slurred speech, Flared iliac wing, Decreased beta-gala... |
OMIM:230650 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Infantile spasms, Tremor, Kyphosis, Small hand, Limb myoclonus, ... |
ORPHA:3095 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... |
ORPHA:2585 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga, Intrauterine growth r... |
OMIM:620270 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal p... |
ORPHA:1803 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Short neck, Postnatal growth ret... |
ORPHA:79333 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra... |
OMIM:269250 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Microcephaly, Kyphosis, Limited elbow extension, Sma... |
OMIM:180870 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
| Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
| Laron Syndrome |
|
Severe short stature, Abnormal joint morphology, Short long bone, Limb undergrowth, Delayed menarche |
OMIM:262500 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Short stature, Absent pubertal growth spurt, Ataxia, Microcephaly, Bilater... |
ORPHA:464282 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Dispropor... |
ORPHA:1801 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski... |
OMIM:615362 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Kyphosis, Spastic tetraplegia, Dystonia, Neon... |
OMIM:618237 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Short stature, Microcephaly, Splenomegaly, Abnormal limb bone morphology, Abnormali... |
ORPHA:2204 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Limited elbow movement, Micrognathia, Increased intervertebral space, ... |
ORPHA:508533 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H... |
ORPHA:239 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Eczema, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal... |
OMIM:619751 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Growth delay, S... |
ORPHA:238750 |
| Rhizomelic Chondrodysplasia Punctata |
|
Short stature, Rhizomelia, Microcephaly, Growth delay, Epiphyseal stippling, Abnormal epiphysis m... |
ORPHA:177 |
| Griscelli Syndrome, Type 2 |
|
Seizure, Spasticity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem... |
OMIM:614409 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly, Abnormal epiphysis morpho... |
ORPHA:93283 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... |
ORPHA:168549 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals |
OMIM:277950 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Short neck, Abnor... |
ORPHA:1842 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Tremor, Abnormal cerebellum morphology... |
OMIM:300957 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Cerebellar gliosis, Seizu... |
ORPHA:79243 |
| Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Short neck, Microcephaly, Splenomega... |
OMIM:615673 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Abnormal fibul... |
ORPHA:85198 |
| Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Seizure, Macrocephaly |
ORPHA:796 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... |
OMIM:615400 |
| Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, Decerebrate... |
ORPHA:354 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Sandal gap, Short stature, Tremor, Kyphosis, Small hand, Simplified gyral ... |
OMIM:300354 |
| Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Gray matter... |
ORPHA:2655 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Short stature, Microcephaly, Spinal rigidity, Kyphosis, Hyperlordosis, Sei... |
OMIM:617404 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Generalized myoclonic seizure, Coxa valga, Splenomegaly, Patent ductus arte... |
OMIM:230600 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Infantile spasms, Kyphosis, Focal-onset seiz... |
ORPHA:505652 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Prominent metopic ridge, Short stature, Micromelia... |
ORPHA:1597 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Short stature, Kyphoscoliosis, Coxa valga, Hyperlordosis, Mic... |
OMIM:618363 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Seizure, Scoliosis, Short neck |
ORPHA:2744 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... |
ORPHA:1354 |
| Dpm1-Cdg |
|
Micrognathia, Knee flexion contracture, Hepatic fibrosis, Hepatic steatosis, Long hallux, Hepatom... |
ORPHA:79322 |
| L-2-Hydroxyglutaric Aciduria |
|
Spastic tetraparesis, Seizure, Abnormality of extrapyramidal motor function, Macrocephaly, Aplasi... |
ORPHA:79314 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed ... |
OMIM:619797 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Kyphosis, Macrocephaly, Gray matter heterotopia, Seizure, Hand polydact... |
OMIM:300337 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Microc... |
OMIM:619092 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Enlarged joints, ... |
OMIM:313420 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Knee flexion cont... |
OMIM:615290 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Lumbar interpedicular narrowing,... |
OMIM:271510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Microcephaly, Short neck, Tremor,... |
OMIM:300055 |
| Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot... |
OMIM:102370 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... |
OMIM:608940 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Microcephaly, Micromelia, Kyphosis,... |
ORPHA:3121 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Short metacarpal, Short stature, Ataxia, Coxa valga, Microcephaly, Kyphosis, ... |
OMIM:248800 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Hypertonia, Wrist flexion contr... |
OMIM:610758 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Kyphosis, Seizure, Large hands, Scoliosis |
ORPHA:276630 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Thrombocytopenia, Jaundice, Splenomegaly, Seizure, Conjunctivitis, Hemop... |
OMIM:603552 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Ankle flexion contracture, Micro... |
OMIM:608799 |
| O'Donnell-Luria-Rodan Syndrome |
|
Tapered finger, Kyphosis, Seizure, Prolonged neonatal jaundice, Macrocephaly |
OMIM:618512 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Hepatomegaly, Biconvex vertebral bodies, Eczema, Eosinophilia,... |
OMIM:616651 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly o... |
ORPHA:2633 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
| Ck Syndrome |
|
Microcephaly, Hyperlordosis, Kyphosis, Micrognathia, Seizure, Scoliosis, Pachygyria, Abnormal dig... |
OMIM:300831 |
| Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, Hype... |
OMIM:618870 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Odontochondrodysplasia |
|
Bowing of the long bones, Short stature, Micromelia, Coxa valga, Patent ductus arteriosus, Cone-s... |
ORPHA:166272 |
| Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Eczema, Eosinoph... |
ORPHA:353298 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun... |
OMIM:615768 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Bilateral tonic-clonic seizure, Rigidity, Tremor, Chiari type I malformati... |
OMIM:617836 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Seiz... |
OMIM:234250 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Me... |
OMIM:601356 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Seizure, Lumbar kyphoscoliosis, Cerebellar hypopla... |
OMIM:619422 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... |
OMIM:616053 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Kyphosis, Absent distal p... |
OMIM:618658 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Abnormal pyramidal s... |
OMIM:614831 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Microcephaly, Postnatal growth retardation, Tremor, Micrognathia, Prominent protruding coccyx, Sp... |
ORPHA:480907 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Ataxia, Micrognathia, Kyphosis, Abnormal pyramidal sign, ... |
ORPHA:48431 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Hip dislocation, Elbo... |
ORPHA:75840 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Microcephaly, Micrognathia, Postaxial hand polydactyly... |
OMIM:241800 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Microcephaly, Tremor, Splenomegaly, Rigidity, Dystoni... |
OMIM:615010 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... |
OMIM:618090 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased ac... |
OMIM:607616 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Kyphosis, Seizure, Hip dysplasia, Scoliosis, Hypoplastic iliac wing... |
ORPHA:1858 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Short stature, Eczema, Microcephaly, Micrognathia, Kyphosis, Seizure, Hypertonia,... |
ORPHA:352490 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... |
ORPHA:363710 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Low alkaline phosphatase, A... |
OMIM:241500 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizu... |
OMIM:617810 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu... |
OMIM:130060 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Pos... |
OMIM:613320 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Microcephaly, Tremor, Seizure, Hip dysplasia, Hype... |
ORPHA:457240 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno... |
OMIM:112910 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Cerebellar vermis hypoplasia, Ulnar de... |
OMIM:618291 |
| Spondyloenchondrodysplasia |
|
Bowing of the legs, Chorea, Juvenile rheumatoid arthritis, Short stature, Autoimmune thrombocytop... |
ORPHA:1855 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Increased head circumference, Abnorm... |
ORPHA:94068 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short stature, Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal infla... |
OMIM:619858 |
| Jeune Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, P... |
ORPHA:474 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Talip... |
OMIM:616719 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Vertebral segmentatio... |
OMIM:611209 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Generalized-onset seiz... |
ORPHA:79263 |
| Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration,... |
ORPHA:93274 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly |
ORPHA:1277 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Prominent metopic ridge, Ataxia, Kyphosis, Seizure, Scoliosis |
ORPHA:85317 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Bone-... |
OMIM:257200 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Microcephaly, Tremor, Elbow flexion contracture, Simplified gyral pattern, ... |
OMIM:619470 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:139485 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Camptodactyly, Neonatal... |
OMIM:618393 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Hypoplastic cer... |
ORPHA:56304 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Cerebellar vermis hypoplasia, Congenital hip dislocation, Ge... |
ORPHA:357058 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa valga, Disproport... |
OMIM:617425 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Micrognathia, Hypoplasia of the pons, Kyphosis, Head titubation, Bron... |
OMIM:619708 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Short stature, Reduction of oligodendroglia, Writer's cramp, Microcephaly, ... |
OMIM:312080 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Bowing of the long bones, Short neck, Kyphosis, Splenomegaly, Macrocephaly, Arthrit... |
ORPHA:61 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tapered finger, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria,... |
OMIM:616505 |
| Baralle-Macken Syndrome |
|
Microcephaly, Tapered finger, Kyphosis, Focal-onset seizure, Dystonia, Spasticity |
OMIM:619255 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Short neck, Be... |
OMIM:616897 |
| Hall-Riggs Syndrome |
|
Short stature, Microcephaly, Seizure, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Li... |
ORPHA:2107 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular... |
OMIM:617284 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Hepatomegaly, Generalized-onset seizure, Short stature, Thoracolumbar scolios... |
OMIM:618443 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Abnormal rib morp... |
ORPHA:2522 |
| Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:616471 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Rocker bottom foot, Micromelia... |
ORPHA:2616 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia... |
OMIM:615924 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
| Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5... |
OMIM:210600 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... |
OMIM:617831 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Microcephaly, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... |
OMIM:612016 |
| Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Short me... |
OMIM:615777 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Enlarged joints, Large tarsal bones, M... |
OMIM:215150 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Hammertoe |
OMIM:618387 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Hyperlordosis, Tremor, Hypertonia, Photosensitive myoclonic seizure, Aplasia/Hypop... |
ORPHA:1192 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Periventricular heterotopia, Rigidity, Kyphosis, Metaphyseal wi... |
OMIM:618476 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Eczema, Microcephaly, Patent ductus arteriosus, Recurrent pneumonia, Seizure, Short 5th finger, C... |
ORPHA:500159 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Seizu... |
OMIM:612438 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Microcephaly, Abnormal carpal morphology, Madelung deformity, Severe postnatal gro... |
ORPHA:319675 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
| Sjögren-Larsson Syndrome |
|
Short stature, Microcephaly, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Seizure, Scolio... |
ORPHA:816 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Sc... |
OMIM:159950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
| Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Limb dystonia, Generalized dystonia, Dystonia, Parkinsonism, Microcephaly, Tr... |
OMIM:617013 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinsk... |
OMIM:618093 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign |
OMIM:260540 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Hsd10 Disease |
|
Ataxia, Microcephaly, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Seizure, M... |
ORPHA:391417 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy... |
OMIM:209950 |
| Wieacker-Wolff Syndrome |
|
Dystonia, Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Microc... |
OMIM:314580 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia, Histiocytosis |
ORPHA:157991 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Generalized-onset seizure, Tremor, Retrobulbar optic neuritis, Hemiparesis, Se... |
OMIM:619737 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Short n... |
ORPHA:1865 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Splenomegaly, Postaxial hand polydacty... |
OMIM:615630 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Microcephaly, Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Anemia |
ORPHA:2598 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A... |
OMIM:253000 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Infantile spasms, Microcephaly, Tremor, Growth delay, Spasticity |
OMIM:278780 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Kyphosis, Ataxia, Scoliosis |
ORPHA:101075 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic iliac wing, Prominent ... |
OMIM:277590 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyp... |
OMIM:619909 |
| C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Micromelia, Microcephaly, Microgna... |
OMIM:211750 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Bruck Syndrome 1 |
|
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... |
OMIM:259450 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Macrocephaly, Seizure, Scoliosis, Short palm |
OMIM:300602 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Kyphoscoliosis, Microcephaly, Patent ductus arteriosus, Hip dislocation, Seizure, ... |
OMIM:618005 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... |
OMIM:617604 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Microcep... |
ORPHA:85293 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... |
ORPHA:2639 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Abnormal pelvic gir... |
OMIM:166210 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Clonus, Microcephaly, Kyphosis, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Microcephaly, Tremor, Cho... |
ORPHA:397946 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Seizure, Scoliosis, Macrocephaly, Spasticity |
ORPHA:2429 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Postna... |
OMIM:619135 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Abnormal rib morphology, Hepatitis,... |
ORPHA:1163 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:617087 |
| Mucolipidosis Iii Gamma |
|
Increased iduronate sulfatase level, Short stature, Short neck, Flat capital femoral epiphysis, H... |
OMIM:252605 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Dystonia, Rhizomelia, Ataxia, Microcephaly, Tremor, Micrognathia, Recurrent p... |
OMIM:616271 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Short stature, Microcephaly, Micrognathia, Kyphosis, Hypertonia, Scoliosis, Clino... |
OMIM:615834 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia, Microcephaly, Abnormal rib morphology, Abnormality of neuronal migration, Disproporti... |
ORPHA:2772 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Dystonia, Hemiatrophy |
ORPHA:306669 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... |
ORPHA:2491 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Metatarsus adduct... |
ORPHA:2249 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Wide anterior fontanel, Ky... |
OMIM:616482 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... |
OMIM:618150 |
| Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Kyphosis, Seizure |
ORPHA:87876 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Microcephaly, Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Seizure, Abnormality of ext... |
ORPHA:500180 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Spatulate ribs, Spasticity, Hepatosplenomegaly, Hypoplast... |
ORPHA:79255 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Micrognathia, Simplified gyral pattern, Macroce... |
ORPHA:300570 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ... |
OMIM:610743 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... |
OMIM:128100 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... |
OMIM:611717 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Speech apraxia, Short stature, A... |
OMIM:615356 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Microcytic anemia, Kyphosis, Abnormal ... |
ORPHA:324737 |
| Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Microretrognathia, Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure ... |
OMIM:619124 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregu... |
OMIM:612813 |
| Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Short neck, Micrognathia, Disproportionate short stature, Abnor... |
ORPHA:93298 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac wing, Abnormal ve... |
ORPHA:93315 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalize... |
OMIM:619028 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Micrognathia, Abnormality of t... |
ORPHA:2496 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Kyphosis, Ataxia, Scoliosis |
ORPHA:101078 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Patent ductus arteriosus, Short long bone, Vertebral segmentatio... |
OMIM:618845 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased beta-galactosidase activ... |
OMIM:253010 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Microcephaly, Tremor, Growth delay, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxi... |
OMIM:612716 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Micrognathia, Hypoplastic iliac wing, Rhizomelia, Hyperlordo... |
ORPHA:763 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Seizure, Hypertonia, Secondary microcephaly, Cerebellar... |
ORPHA:50810 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Hepatomegaly, Short neck, Microcephaly, Kyphosis, Hip dislocation, Hepatosple... |
OMIM:608776 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Bilateral tonic-clonic seiz... |
OMIM:600092 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Dispropo... |
ORPHA:263463 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Hand clenching, F... |
ORPHA:240103 |
| Xylt1-Cdg |
|
Relative macrocephaly, Hepatomegaly, Joint dislocation, Acne, Short stature, Coxa valga, Microcep... |
ORPHA:370930 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis... |
ORPHA:582 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Microcephaly, Micrognathia, Short lon... |
OMIM:224410 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Dysmetria, Seizure, Progressive gait... |
ORPHA:289494 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Seizure, Spastic para... |
ORPHA:329284 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Microcephaly, Hyperlordosis, Kyphosis, Scoliosis, Frequent ... |
OMIM:606612 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars... |
OMIM:617102 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Eczema, Allergic rhinitis, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-... |
OMIM:618162 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Elev... |
ORPHA:529665 |
| Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L... |
ORPHA:845 |
| Immunodeficiency 37 |
|
Seizure, Colitis, Status epilepticus, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Microcephaly, Wide anterior fontanel, Kyphosis, Postnatal growth reta... |
OMIM:248700 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Narrow greater sciatic notch, Reduced leukocyte beta-glucuronidase ac... |
OMIM:253220 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossificati... |
OMIM:210710 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... |
OMIM:618060 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei... |
OMIM:612736 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Wormi... |
OMIM:259440 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Achondrogenesis Type 1A |
|
Short palm, Multiple rib fractures, Severe short stature, Micromelia, Short neck, Micrognathia, S... |
ORPHA:93299 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Frequent falls, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology |
ORPHA:353 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe... |
ORPHA:3082 |
| New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ... |
ORPHA:363558 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Pa... |
ORPHA:392 |
| Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Ankle flex... |
ORPHA:536516 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short lon... |
ORPHA:93346 |
| Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... |
OMIM:600972 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Seizure, Scoliosis |
OMIM:300861 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, Short... |
ORPHA:3409 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Short sta... |
OMIM:616229 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Microcephaly, Kyphosis, Abnormality of the elbow, Hip di... |
ORPHA:1005 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dystonia |
OMIM:612126 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar vermis hypoplasia, Short neck, Tremor, Prominent protruding coccyx, Chronic otitis med... |
OMIM:300966 |
| Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Growth delay, Seizure, Scoliosis |
OMIM:617768 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Short stature, Wormian bones, Micr... |
ORPHA:1798 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... |
ORPHA:1454 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly |
ORPHA:3085 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Bone-marrow foam cells, Low chole... |
OMIM:257220 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Short neck, Microgn... |
OMIM:224400 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysm... |
OMIM:607694 |
| Rett Syndrome |
|
Dystonia, Short stature, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Seizure, Secondary micr... |
OMIM:312750 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Abnormality of the liver, Status epile... |
OMIM:614307 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Kyphoscoliosis, Microcephaly, Tremor, Choreoathetosis, Seizure, Dystonia, Spa... |
OMIM:617664 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Bilateral tonic-clonic seizure, Microcephaly, Tremor, Kyphosis, Cerebell... |
OMIM:617988 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Short stature, Genu recurvatum, Bilateral tonic-clonic seizure, Kyp... |
ORPHA:364028 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Poor motor coordination, Tre... |
ORPHA:1170 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Symphalangism affecting the phalanges of ... |
ORPHA:2741 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, S... |
ORPHA:93324 |
| Ollier Disease |
|
Anemia, Abnormal metaphysis morphology, Platyspondyly, Micromelia |
ORPHA:296 |
| Listeriosis |
|
Back pain, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Con... |
ORPHA:533 |
| Desmosterolosis |
|
Micromelia, Micrognathia, Hypertonia, Pachygyria, Patent ductus arteriosus, Abnormality of neuron... |
ORPHA:35107 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Abnormal form of... |
ORPHA:475 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Short stature, Kyphosis, Split hand, Scoliosis |
OMIM:618124 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micromelia, Elbow... |
ORPHA:93329 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Shoulder dislocation, Glios... |
ORPHA:404454 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Short neck, Missing ribs, Humeroradial synostosis,... |
OMIM:251230 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Short stature, Ataxia, Tremor, Hip dislocation, Abnormal pyramidal sign, Dysm... |
OMIM:614381 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Growth delay, Bradykinesia, Se... |
ORPHA:70594 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Generalized dystonia, Femoral retroversion, Micromelia, Kyph... |
ORPHA:79107 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disp... |
ORPHA:583 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Thickened ribs, Severe short stature, Short neck, Kyphosis, Splenomegaly, Vacuolate... |
OMIM:230500 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... |
ORPHA:2928 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
| Osteogenesis Imperfecta, Type X |
|
Relative macrocephaly, Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic sc... |
OMIM:613848 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomega... |
ORPHA:158057 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Thrombocytopenia... |
ORPHA:540 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosi... |
OMIM:617710 |
| Alg1-Cdg |
|
Cerebellar atrophy, Kyphosis, Seizure, Decreased liver function, Scoliosis, Progressive microcephaly |
ORPHA:79327 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent phalangeal crease, Hyper... |
OMIM:108145 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Short stature, Kyphosis, Abnormal fo... |
ORPHA:3219 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowing, Thin ribs, Sl... |
OMIM:259420 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Elevated hepatic transaminase, Congenital hip dislocation, Elevated circulating as... |
OMIM:300280 |
| Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Generalized-onset seizure, Tremor, F... |
ORPHA:228360 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, Short ... |
OMIM:614524 |
| Japanese Encephalitis |
|
Genu recurvatum, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Infect... |
ORPHA:79139 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Arachnodactyly, Microcephaly, Tremor, Hemivertebrae, Seizure, Scoliosis |
ORPHA:370079 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Microcephaly, Patent ductus arteriosus, Disproportionate short stature, Coxa vara, Na... |
ORPHA:2637 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Ankle swelling, Microcephaly, Wrist swelling, Thrombocytopeni... |
ORPHA:448237 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s... |
OMIM:163400 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Bilateral tonic-clonic seizure, Rocker bottom foot, Micrognathia, Keratitis, Tibia... |
ORPHA:453510 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... |
ORPHA:2145 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Ataxia, Microcephaly, Simplified gyral pattern, Dysmetria, Anemia, Dysdiadochokine... |
OMIM:616541 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Microcephaly, Tremor, Osteolytic defects of the middle phalanx of the 4th... |
ORPHA:765 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Cuboid-shaped verteb... |
ORPHA:163654 |
| Sialidosis Type 1 |
|
Short stature, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form of the verte... |
ORPHA:812 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Patent ductus arteriosus, Limb hypertonia, Seizure, Scoliosis, Macroc... |
OMIM:617190 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... |
OMIM:607944 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia |
OMIM:614898 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Abnorm... |
ORPHA:521426 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Scoliosi... |
OMIM:615761 |
| 3C Syndrome |
|
Finger syndactyly, Short stature, Short neck, Missing ribs, Kyphosis, Postnatal growth retardatio... |
ORPHA:7 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Patent ductus arteriosus, S... |
OMIM:608149 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Kyphosis, Paraparesis, Scoliosis |
ORPHA:99014 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Simpl... |
ORPHA:1942 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Short stature, Genu valgum, Seizure |
ORPHA:1035 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Seizure, Hypertonia, Hemophagocytosis, Neutro... |
ORPHA:79477 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent sinusitis, Thrombo... |
OMIM:613101 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Short neck, Splenomegaly, Short toe, Pate... |
OMIM:269860 |
| Coffin-Lowry Syndrome |
|
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Short stature, Tapered finge... |
ORPHA:192 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Ataxia, Thrombocytopenia, J... |
OMIM:603553 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Microcephaly, Micrognathia, Kyphosis, Vertebral segmentation defect, Hypert... |
ORPHA:2617 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Short stature, Ataxia, Seizure, Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t... |
OMIM:271665 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom fo... |
OMIM:301041 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, Short stature, Postnatal growth retardation, Kyphosis, T... |
OMIM:616294 |
| Nipah Virus Disease |
|
Tremor, Seizure, Infectious encephalitis, Myoclonus |
ORPHA:99825 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Hemiplegia, Adducted thumb |
ORPHA:2181 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clumsiness... |
ORPHA:88644 |
| Bruck Syndrome |
|
Bowing of the long bones, Short stature, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis,... |
ORPHA:2771 |
| Glutathionuria |
|
Eczema, Tremor, Gray matter heterotopia, Reduced gamma-glutamyltransferase level, Dysdiadochokine... |
OMIM:231950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta... |
OMIM:300998 |
| Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Torticollis, Microcephaly, Micrognathia, Kyphosis, Pat... |
OMIM:609029 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Seizure, Hyp... |
OMIM:261640 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Short stature, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Postnat... |
OMIM:612199 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Microcephaly, Kyphosis, ... |
ORPHA:254346 |
| Frank-Ter Haar Syndrome |
|
Acne, Camptodactyly of finger, Genu recurvatum, Kyphosis, Scoliosis, Abnormal metacarpal morpholo... |
ORPHA:137834 |
| Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Short foot, Seizure, Sco... |
OMIM:615547 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postna... |
OMIM:300963 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ... |
OMIM:171480 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Rhizomelia, Kyphoscoliosis, Coxa ... |
ORPHA:263508 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ... |
OMIM:619738 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Short stature, Ataxia, Tremor, Seizure, Delayed puberty, Spasticit... |
ORPHA:100 |
| Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Micromelia, Microcephaly, Abnormality of the elbow |
ORPHA:2220 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Ata... |
OMIM:214500 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Slurre... |
ORPHA:137898 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Short stature, Parkinsonism, Kyphoscoliosis, Tremor, Seizure |
ORPHA:3077 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... |
ORPHA:167 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar ... |
OMIM:609128 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Micrognathia, Kyphosis, Abnormal ri... |
ORPHA:2050 |
| Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Scoliosis, Spina... |
ORPHA:64755 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Dystonia, Spasticity, Dens... |
ORPHA:542310 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Scoliosis, Trunca... |
OMIM:208920 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Seizure, Macroceph... |
OMIM:603387 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Oculomotor apraxia, Scoliosis |
ORPHA:3454 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Camptodactyly of finger, Microcephaly, Growth delay, Seizure, Intrauterine growth r... |
ORPHA:1194 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Seizure, Ataxia, Short mandibular rami |
OMIM:141300 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphys... |
ORPHA:420794 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Micrognathia, Kyphosis, Abnormal cereb... |
ORPHA:2510 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Increased iduronate sulfatase level, Short statur... |
OMIM:252600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Trisomy 13 |
|
Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib morphology, Seizure,... |
ORPHA:3378 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Bilateral talipes equinovarus, Talipes equinovarus, Scoliosis, Flexion ... |
OMIM:618484 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... |
OMIM:143095 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathet... |
OMIM:618877 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Microcephaly, Kyphosis, Patent ductus arteriosus, Tremor, Micrognathi... |
OMIM:617061 |
| Kinsship Syndrome |
|
Short neck, Micrognathia, Dandy-Walker malformation, Dislocated radial head, Short stature, Myocl... |
OMIM:619297 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, S... |
ORPHA:96334 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis |
ORPHA:1548 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Myoclonic sei... |
OMIM:620327 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Cerebellar vermis hypoplasia, Cerebell... |
OMIM:212065 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Thrombocytopenia, Jaundice, Splenomegaly, Tetraplegia, Leukopenia, Seizure,... |
OMIM:267700 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Hand polydactyly, Biparietal narrowing, Fo... |
ORPHA:220493 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Seizure, Hypertonia, Scoliosis |
ORPHA:1545 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Short neck, Asplenia, Microcephaly, Patent ductus ar... |
ORPHA:99776 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,... |
OMIM:614091 |
| Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bon... |
ORPHA:1508 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipes equ... |
OMIM:181405 |
| Typhoid |
|
Hepatomegaly, Skin rash, Ataxia, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis |
ORPHA:99745 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Short stature, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Scoliosis, Sy... |
ORPHA:3191 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Ataxia, Microcephaly, Kyphosis, Choreoathetosis, Seizure, Scoliosis, Dystonia, Spa... |
ORPHA:702 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri... |
ORPHA:2021 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Rigidity, Kyphosis, Babin... |
ORPHA:97349 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
| Image Syndrome |
|
Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation |
ORPHA:85173 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Generalized-onset seizure, Rocker bottom foot, Postaxial polydactyl... |
OMIM:617527 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Microcephaly, Kypho... |
ORPHA:193 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Hand polydactyly, Biparietal narrowing, Sc... |
ORPHA:220497 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Short stature, Short neck, Postnatal growth retardation, Mi... |
OMIM:614800 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| 15Q24 Microdeletion Syndrome |
|
Short stature, Proximal placement of thumb, Microcephaly, Abnormal thumb morphology, Abnormal toe... |
ORPHA:94065 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Kyphosis, Irregular femoral epiphysis, Osteoarthritis,... |
OMIM:108300 |
| Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Hemiparesis, Seizure, Chiari malformation, Aplasia/Hypoplasia ... |
ORPHA:2481 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis |
ORPHA:1875 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Seizure, Scoliosis, Camptodacty... |
ORPHA:88628 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Scoliosis, Hepatic cysts, Brachydactyly |
OMIM:613819 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brac... |
ORPHA:171866 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Microcephal... |
OMIM:301040 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Tremor, Polyminimyoclonus, Clubbing of fingers, Fasciculations, Scoliosis, Vocal ... |
OMIM:619574 |
| Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Ataxia, Tapered finger, Microcephaly, Kyphosis, Micrognathia, Seizure, Scoliosis, ... |
ORPHA:2479 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Low cholesterol esterification rate, Sple... |
OMIM:607625 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, Tremor, Micrognath... |
ORPHA:476126 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver... |
ORPHA:2916 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Ataxia, 2-3 toe syndactyly, Seizure, Upper limb spasticity, Myoclonus, Scoliosis, General... |
OMIM:619229 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Harrod Syndrome |
|
Arachnodactyly, Microcephaly, Kyphosis, Abnormal shoulder morphology, Seizure, Abnormal pelvic gi... |
ORPHA:2115 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... |
ORPHA:958 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosi... |
OMIM:616300 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Pachygyria, Patent duc... |
ORPHA:79324 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Mic... |
OMIM:615574 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Severe periodontitis, Overlapping toe, Short stature, Microcytic anem... |
ORPHA:99843 |
| 49,Xxxxy Syndrome |
|
Short stature, Down-sloping shoulders, Coxa valga, Short neck, Tremor, Elbow dislocation, Hip dis... |
ORPHA:96264 |
| 12Q14 Microdeletion Syndrome |
|
Short stature, Microcephaly, Tremor, Abnormality of the spleen, Micrognathia, Chiari malformation... |
ORPHA:94063 |
| Achondrogenesis |
|
Severe short stature, Micromelia, Micrognathia, Short neck, Macrocephaly |
ORPHA:932 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contractur... |
OMIM:601559 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Pachygyria, Seizure, Myoclonus, Episodic ataxia, Febrile seizure (within... |
ORPHA:1934 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Meso... |
OMIM:605274 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Short stature, Tapered finger, Hyperlordosis, Hypoplasia of the odont... |
OMIM:616007 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Infantile spasms, Microcephaly, Tremor, Micrognathia, Jaundice, Se... |
OMIM:608093 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Periventricular heterotopia, Micrognathia, Kyphosis, Seizure, Hip dy... |
ORPHA:261250 |
| Osteoglophonic Dysplasia |
|
Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Hypertonia, Wrist flexion contracture, Abnormall... |
ORPHA:800 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Slc39A8-Cdg |
|
Cerebellar atrophy, Short stature, Craniosynostosis, Elbow flexion contracture, Knee flexion cont... |
ORPHA:468699 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia, Microcephaly |
ORPHA:291 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Clinodactyly, Scoliosis, Short neck |
ORPHA:178148 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Myocarditis, Splenomegaly, Seizure, Infectious encephalitis |
ORPHA:83317 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Skin rash, Camptodactyly of finger, Eosinophilia, Short stature, Keratitis, He... |
ORPHA:464 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Severe short stature, Short stature, Short nec... |
OMIM:309900 |
| Hurler Syndrome |
|
Hepatomegaly, Hypoplasia of the femoral head, Short stature, Coxa valga, Short neck, Hypoplasia o... |
OMIM:607014 |
| Cowden Syndrome 1 |
|
Dysplastic gangliocytoma of the cerebellum, Micrognathia, Kyphosis, Progressive macrocephaly, Thy... |
OMIM:158350 |
| 48,Xxxy Syndrome |
|
Down-sloping shoulders, Coxa valga, Short neck, Tremor, Elbow dislocation, Hip dislocation, Seizu... |
ORPHA:96263 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, ... |
OMIM:301078 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Microcephaly, Abnormal shou... |
ORPHA:1422 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Microcephaly, Spinal rigidity, Kyphosis |
OMIM:615084 |
| Alexander Disease |
|
Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Tet... |
ORPHA:58 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Micromelia, Microcephaly, Micrognathia, Polymicrogyria, Abnormality o... |
ORPHA:2671 |
| Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, Short neck, Mic... |
OMIM:601808 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia, Ulnar bowing, Preax... |
OMIM:617866 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
| Crigler-Najjar Syndrome |
|
Seizure, Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Hemivertebrae, Hepatoblastoma, Pachygy... |
OMIM:304050 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Abnormality of the liver, Vertebral s... |
ORPHA:2911 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Short stature, Ataxia, Short neck, Microcephaly, Postnatal growth r... |
ORPHA:168577 |
| 15Q14 Microdeletion Syndrome |
|
Acne, Short stature, Microcephaly, Kyphosis, Seizure, Biparietal narrowing, Scoliosis |
ORPHA:261190 |
| Classic Phenylketonuria |
|
Eczema, Microcephaly, Tremor, Paraplegia, Growth delay, Seizure, Hypertonia, Hemiplegia |
ORPHA:79254 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hypoplasia of the... |
OMIM:252500 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Talipes equi... |
OMIM:254090 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Chorea, Simplified gyral pattern, Athetosis, Seizure, Talipes equinovarus, Sc... |
OMIM:613454 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Microcephaly, Micr... |
ORPHA:1908 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Short neck, Microcephaly, Wide anterior fontanel, Metaphyseal wideni... |
OMIM:263210 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Infectious encephalitis, Arthritis |
ORPHA:42642 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly... |
ORPHA:158048 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Eczema, Microcephaly, Ky... |
OMIM:610443 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... |
ORPHA:3144 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Seizure, Proximal placement of thumb |
OMIM:615433 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dilated fourth ventric... |
ORPHA:572798 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Microcephaly, Kyphosis, Recurrent pneumonia, Elbow flexion contra... |
OMIM:618493 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Ataxia, Myocarditis, Splenomegaly, Abnormal pyramidal sign,... |
ORPHA:3452 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Abnormal dentate nucleu... |
ORPHA:48818 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Torticollis, Short neck, Micrognathia, Femoral bowing, Short long bone, Broad... |
OMIM:617022 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Seizure, Spastic para... |
OMIM:300894 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Short stature, Microcephaly, Postnatal g... |
ORPHA:261323 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Poor ... |
ORPHA:25 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, ... |
OMIM:265000 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal finger mo... |
ORPHA:2636 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal ... |
ORPHA:666 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... |
ORPHA:99750 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Prominent metopic ridge, Multifocal seizures, Eczema, Short neck, Mi... |
ORPHA:488632 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Micrognathia, Cervical ribs, Microcephaly |
ORPHA:77300 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... |
ORPHA:2756 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Micrognathia, Wide anterior fontanel, Kyphosis, Macrocephaly |
OMIM:618272 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly... |
OMIM:146510 |
| Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, Kyphosis, Tibial b... |
OMIM:610915 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl... |
ORPHA:79329 |
| Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Abnor... |
ORPHA:646 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Short stature, Ataxia, Micrognat... |
ORPHA:2754 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Hypertonia, Otitis media, Clin... |
OMIM:122470 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, ... |
ORPHA:171629 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Right h... |
OMIM:607426 |
| Ataxia-Telangiectasia |
|
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor... |
OMIM:208900 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
| Mcdonough Syndrome |
|
Kyphosis, Short stature, Scoliosis, Micrognathia |
ORPHA:2471 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m... |
ORPHA:50945 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Dysmetria, Intrauterine growth retardation, Hypersegmentation of neutr... |
OMIM:615578 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Scoliosis |
OMIM:609541 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... |
ORPHA:2215 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Mesomelic short statu... |
ORPHA:1765 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Hepatomegaly, Short stature, Pneumonia, Limited elbow movement, Limited wri... |
OMIM:617809 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Craniosynostosis, Microcephaly, Kerati... |
ORPHA:525731 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Brucellosis |
|
Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ence... |
ORPHA:1304 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Microcephaly, Postnatal growth retardation, Short long bone, Scoliosis, Short p... |
OMIM:619184 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Microcephaly, Spinal rigidity, Kyphosis |
ORPHA:352447 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Microcephaly, Kyphosis,... |
ORPHA:568 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Microcephaly, Tremor, Tapered finger, Seizure, Recurre... |
OMIM:619680 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Hepatomegaly, Episcleritis, Histiocytosis, Short stature, Rocker bottom foot, Camp... |
OMIM:602782 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis, Intrauterine growth retardation |
OMIM:255200 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Limited mobility of proximal interpha... |
OMIM:222300 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clonus,... |
OMIM:211530 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of... |
OMIM:616331 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Hypertonia, Thoracic kyphosis, Asp... |
OMIM:602535 |
| Hajdu-Cheney Syndrome |
|
Short neck, Absent frontal sinuses, Micrognathia, Periodontitis, Partial absence of toe, Hepatome... |
ORPHA:955 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ... |
OMIM:307200 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphosis, 3... |
OMIM:619951 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Micrognathia, Hip dislocation, Genu valgum,... |
ORPHA:171436 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Increased circulating lactate dehydrog... |
OMIM:619405 |
| Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal p... |
ORPHA:1784 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Seizure, Elbow flexion contracture |
OMIM:618138 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaphyseal chondr... |
OMIM:156400 |
| 2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered fing... |
ORPHA:261349 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Generalized-onset seizure, Proportionate short stature, Microcephaly, Mi... |
OMIM:613457 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Hyp... |
ORPHA:818 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Relative macrocephaly, Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, P... |
OMIM:300967 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... |
ORPHA:280 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Camptodactyly of finger, Micrognathia, Contracture of the distal int... |
OMIM:607015 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Vertebral segmentation defect, Chronic otitis media, Clinodactyly of th... |
ORPHA:1507 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis, Thrombocytopenia, Splenomega... |
ORPHA:77259 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Kyphosis, Jaundice, Spl... |
OMIM:615512 |
| Frank-Ter Haar Syndrome |
|
Short palm, Bowing of the long bones, Acne, Anterior concavity of thoracic vertebrae, Kyphoscolio... |
OMIM:249420 |
| Legionnaires Disease |
|
Pericarditis, Ataxia, Myocarditis, Jaundice, Splenomegaly, Hepatitis, Endocarditis, Lymphopenia, ... |
ORPHA:549 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Se... |
ORPHA:404440 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short stature, Delayed closure of the anterior fontanelle, Micrognathia, Postnatal growth retarda... |
OMIM:225410 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportio... |
OMIM:263520 |
| Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal ri... |
ORPHA:3015 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Ataxia, Short to... |
OMIM:139210 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short stature, Short neck, Micrognathia, Kyphosis, Patent ductus arter... |
OMIM:616894 |
| Trisomy 9P |
|
Sacral dimple, Short neck, Microcephaly, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Bra... |
ORPHA:236 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Dandy-... |
OMIM:256520 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Seizure, Micromelia, Camptodactyly |
OMIM:610015 |
| Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Thrombocytopenia, Hepatitis, Leukopenia, Conjunctivitis... |
ORPHA:454836 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Spinal rigidity, Micrognathia, Kyphosis, Knee contracture, S... |
OMIM:620351 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Short stature, Microcephaly, Kyphosis, Small hand, Short foot, Seizure, Hi... |
ORPHA:500055 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Cowden Syndrome 5 |
|
Micrognathia, Kyphosis, Progressive macrocephaly, Thyroiditis, Seizure, Scoliosis, Intention tremor |
OMIM:615108 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Chiari type ... |
OMIM:270400 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi... |
ORPHA:2879 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Asplenia, Kyphosis, Micrognathia, Camptodactyly, Clin... |
OMIM:619123 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
| Atelis Syndrome 2 |
|
Sacral dimple, Microcephaly, Micrognathia, Kyphosis, Patent ductus arteriosus, Thrombocytopenia, ... |
OMIM:620185 |
| Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Short neck, Micrognathia, Syndactyly, Hepatomegaly, Short stature, Rhizomelia, Paten... |
OMIM:613610 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Short stature, Abnormal hemoglobin, Microcephaly, Spastic paraplegia, Seizure, Talipes equinovaru... |
ORPHA:847 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Prominent metopic ridge, Microcephaly, Kyphosis, Growth delay, Seizure, Scoliosis |
ORPHA:261144 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Short stature, Microcephaly, Kyphosis, Hip dislocation, Seizure... |
ORPHA:96169 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Microcephaly, Kyphosis, Recurrent pneumonia, Deviation of the... |
ORPHA:464738 |
| Genitopalatocardiac Syndrome |
|
Microcephaly, Micrognathia, Kyphosis, Postaxial hand polydactyly, Abnormality of the gallbladder,... |
ORPHA:2075 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Flynn-Aird Syndrome |
|
Kyphosis, Seizure, Ataxia, Scoliosis |
ORPHA:2047 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Joint dislocation, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, ... |
ORPHA:536532 |
| Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Short stature, Protrusio aceta... |
OMIM:610682 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Relative macrocephaly, Short humerus, Bowing of the long bones, Short stature, Kyphosis, Lateral ... |
OMIM:239000 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Back pain, Skin rash, Paralysis, Thrombocytopenia, Jaundice, Parap... |
ORPHA:319251 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... |
ORPHA:2769 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegaly, Ataxia, Seizure, Sc... |
ORPHA:191 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Back pain, Speech apraxia, Abnormal medulla oblongata morphology, ... |
ORPHA:297 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis, Macrocephaly |
OMIM:300676 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
| Zttk Syndrome |
|
Relative macrocephaly, Absent gallbladder, Short stature, Craniosynostosis, Kyphosis, Patent duct... |
OMIM:617140 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, ... |
OMIM:606002 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
| Cowden Syndrome 6 |
|
Micrognathia, Kyphosis, Progressive macrocephaly, Thyroiditis, Seizure, Scoliosis, Intention tremor |
OMIM:615109 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebr... |
OMIM:618223 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Micromelia, Microcephaly, Short neck, Focal motor seizure, Seizure, Hyperto... |
ORPHA:1675 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Aicardi-Goutières Syndrome |
|
Myositis, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramidal muscular rigidity, Short st... |
ORPHA:51 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Intrauterine growth retardation, Viral encephalitis |
OMIM:619441 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck, Genu valgum |
ORPHA:2983 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Broad hallux, Sandal gap, Short stature, Micrognathia, Mesomelia, Camptoda... |
OMIM:618529 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Epileptic spasm, Arachnodactyly, Ataxia, Microcephal... |
ORPHA:86309 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Microcephaly, Kyphosis, Contracture of the proximal interphalang... |
OMIM:618050 |
| Hyperparathyroidism, Transient Neonatal |
|
Wide cranial sutures, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Undulate ribs, Fe... |
OMIM:618188 |
| Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Horizontal ribs, Abnormal iliac wing morphology, Poorly ossified v... |
ORPHA:3003 |
| Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Aplastic clavic... |
ORPHA:198 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Scoliosis, Ca... |
ORPHA:314588 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis |
OMIM:609008 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Hepatomegaly, Short stature, Ataxia, Microcephaly, Tremor, K... |
OMIM:216400 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Infantile Systemic Hyalinosis |
|
Short palm, Severe short stature, Camptodactyly of finger, Micromelia, Short neck, Growth delay, ... |
ORPHA:2176 |
| Alg9-Cdg |
|
Short neck, Micrognathia, Narrow greater sciatic notch, Microretrognathia, Hepatomegaly, Prominen... |
ORPHA:79328 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Eczema, Short stature, Microcephaly, Kyphosis, Pat... |
ORPHA:464306 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Seizure, Scoliosis, Spasticity |
OMIM:616449 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
| H Syndrome |
|
Hallux valgus, Psoriasiform dermatitis, Short stature, Microcytic anemia, Bronchiectasis, Hepatos... |
ORPHA:168569 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Hartnup Disease |
|
Skin rash, Ataxia, Short stature, Seizure, Infectious encephalitis |
ORPHA:2116 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal rib m... |
ORPHA:1318 |
| Prader-Willi Syndrome |
|
Syndactyly, Short stature, Kyphosis, Acromicria, Small hand, Poor gross motor coordination, Genu ... |
OMIM:176270 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Noonan Syndrome 14 |
|
Short stature, Short neck, Kyphosis, Cubitus valgus, Clinodactyly, Lymphopenia, Limited elbow ext... |
OMIM:619745 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal cerebellar peduncle morphology, Ataxia, Clonus, Upper limb postural tremor, Action tremo... |
ORPHA:99027 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Micrognathia, Tremor, Patent ductus arteriosus, Choreoathetosis, Seizure, Mac... |
OMIM:614080 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Seizure, Arachnodactyly |
ORPHA:261222 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Cockayne Syndrome Type 2 |
|
Hepatomegaly, Lower limb spasticity, Ataxia, Kyphosis, Uveitis, Conjunctivitis, Scoliosis, Intrau... |
ORPHA:90322 |
| Wilson Disease |
|
Acute hepatic failure, Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, Hep... |
OMIM:277900 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Micrognathia, Kyphosis, Patent ductus arteriosus, Ch... |
OMIM:130720 |
| Cerebral Visual Impairment |
|
Cerebral palsy, Microcephaly, Clumsiness, Seizure, Oculomotor apraxia, Infectious encephalitis |
ORPHA:447788 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Microcephaly, Kyphosis, Short toe, Patent ductus arter... |
ORPHA:464311 |
| Trisomy 20P |
|
Finger syndactyly, Incoordination, Camptodactyly of finger, Short neck, Micrognathia, Preaxial ha... |
ORPHA:261318 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Arachnodactyly, Hyperlordosis, Kyphosis, Gait ataxia, Seizure, Large hands, S... |
OMIM:617011 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Neutropeni... |
OMIM:300755 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious... |
ORPHA:2552 |
| Monosomy 9Q22.3 |
|
Short neck, Kyphosis, Abnormal rib morphology, Seizure, Abnormality of the vertebral column, Poly... |
ORPHA:77301 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Ataxia, Pustule... |
ORPHA:68 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Clonic seizure, Abnormal curvature of the vertebral column, Hypertonia, Otitis... |
OMIM:619475 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Autoimmune thro... |
OMIM:613179 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Kyphosis, Elevated circulating alanine... |
OMIM:615381 |
| Hyperlysinemia |
|
Abnormal circulating enzyme concentration or activity, Neck hypertonia, Short stature, Poor motor... |
ORPHA:2203 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Craniosynostosis, Tremor, Splenomegaly, Abnormal rib morp... |
ORPHA:667 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Sp... |
ORPHA:447753 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Short stature, Eczema, Autoimm... |
ORPHA:391487 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ... |
OMIM:612651 |
| Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Ataxia, Cerebellar calcifications, Microcephaly, Postnatal gr... |
OMIM:133540 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Myoclonus |
OMIM:258850 |
| Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Abnormal form of the ... |
ORPHA:2789 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Generalized-onset seizure, Calcaneovalgus deformity, Chiari type I malformatio... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Generalized-onset seizure, Calcaneovalgus deformity, Chiari type I malformatio... |
ORPHA:363958 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Accessory s... |
OMIM:194190 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Acne, Short stature, Microcephaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic fr... |
OMIM:208400 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... |
ORPHA:2062 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Patent ductus arteriosus, Jaundice, Growth delay, Seizure, Hypertonia, ... |
OMIM:617248 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Short stature, Craniosynostosis, Limited wrist movement... |
ORPHA:576 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Tibial bowing, Platy... |
OMIM:259770 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bo... |
ORPHA:3107 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypertonia, Gliosis, Short stature, Ataxia, Tapered finger, Typical absence seizure, Seizure, Sco... |
ORPHA:268261 |
| Fucosidosis |
|
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetraple... |
ORPHA:349 |
| Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Long fingers, Wide ant... |
ORPHA:401973 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paralysis, Elbow flex... |
ORPHA:98863 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Micrognathia, Kyphosis, Increased femoral antev... |
OMIM:619005 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Kyphosis, Splenom... |
ORPHA:90324 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Scoliosis, Frequent falls |
OMIM:607155 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Short stature, Ataxia, Bilateral tonic-clonic seizure with focal onset, Microceph... |
OMIM:614947 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Lon... |
OMIM:300960 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Micrognathia, Humerora... |
ORPHA:3404 |
| Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing ... |
OMIM:166220 |
| Marden-Walker Syndrome |
|
Severe short stature, Arachnodactyly, Camptodactyly of finger, Microcephaly, Metatarsus adductus,... |
ORPHA:2461 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Short stature, Kyphosis, R... |
OMIM:203800 |
| Geleophysic Dysplasia 1 |
|
Short palm, Hepatomegaly, Short stature, Camptodactyly of finger, Coxa valga, Short foot, Seizure... |
OMIM:231050 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Kyphosis... |
OMIM:616914 |
| Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Finger syndactyly, Ataxia, Tarsal synostosis, Micrognathia, Tremor... |
ORPHA:2750 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e... |
ORPHA:779 |
| Raine Syndrome |
|
Bowing of the long bones, Short stature, Micromelia, Short neck, Microcephaly, Micrognathia, Elev... |
OMIM:259775 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Elbow flexion contract... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Elbow flexion contract... |
ORPHA:98853 |
| Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Capitate-h... |
OMIM:304150 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... |
OMIM:106300 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Infectious encephalitis |
ORPHA:3386 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
| Cysticercosis |
|
Generalized-onset seizure, Ataxia, Iridocyclitis, Focal-onset seizure, Seizure, Abnormality of th... |
ORPHA:1560 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Sacral dimple, Short stature, Camptodactyly of finger, Micromelia, Meta... |
ORPHA:3206 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Short neck, Micromelia, P... |
OMIM:616546 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Bilateral tonic-clonic seizure, Micrognathia, Sho... |
ORPHA:2751 |
| Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Hypertonia, Aplasia/Hypoplasia... |
ORPHA:199 |
| Neurofibromatosis Type 1 |
|
Short stature, Ataxia, Kyphosis, Genu valgum, Chronic myelogenous leukemia, Slender long bone, Ma... |
ORPHA:636 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil... |
ORPHA:227990 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Cubitus valgus, Capitate-hamate fusion, Genu valgum, Acute leukemia, Abnormal pelvic ... |
ORPHA:289 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Irregular verteb... |
ORPHA:3042 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Hypoplastic vertebral bodies, Chiari type I malformation, Hypertonia, Hepatic steatosis, ... |
ORPHA:3455 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Seizure, Simplified gyral pattern, Microcephaly |
OMIM:619244 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Inflammation of the large intestine, Hep... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Inflammation of the large intestine, Hep... |
ORPHA:99228 |
| Monosomy X |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Inflammation of the large intestine, Hep... |
ORPHA:99226 |
| Turner Syndrome |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Inflammation of the large intestine, Hep... |
ORPHA:881 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:98855 |
| Stickler Syndrome |
|
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Short stature, Micrognathia, Kyphosis, Os... |
ORPHA:828 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil... |
ORPHA:227982 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Retrobulbar opti... |
ORPHA:117 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Bilateral tonic-clonic seizure, Kyphoscoliosis, Kyphosis, G... |
ORPHA:457359 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Short stature, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of th... |
OMIM:617602 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Kyphosis, Hemiplegia/hemiparesis, Ge... |
ORPHA:394 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Abnormal vertebral morphology, Scleritis, Seizure, Abnormality of the ve... |
ORPHA:2273 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea... |
ORPHA:1606 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Severe short stature, Aplastic clavicle, Abnormal metacarpal morphology, Kypho... |
ORPHA:2658 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Pat... |
OMIM:617088 |
| Meningococcal Meningitis |
|
Skin rash, Seizure, Infectious encephalitis |
ORPHA:33475 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| 8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger clinodactyly, Clin... |
ORPHA:508488 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Micrognathia, Periodontitis, Chronic otitis media, Short stature, Abnormal rib morphology... |
ORPHA:534 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Short neck, Micrognathia, Wide anterior fontanel, Prea... |
OMIM:617925 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... |
ORPHA:900 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Genu valgum, Knee flexion contr... |
OMIM:619194 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebra... |
OMIM:216340 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Craniosynostosis, Short neck, Micromelia, Postaxial hand polydactyly, Hepatic fibro... |
OMIM:200995 |
| Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:73263 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
| Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Tremor, Increased head circumference, Chronic otitis media, Abnorma... |
ORPHA:821 |
| Coffin-Siris Syndrome 1 |
|
Prominent interphalangeal joints, Gait ataxia, Clinodactyly of the 5th finger, Prominent fingerti... |
OMIM:135900 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Involuntary movements, Kyphosis, Slender... |
ORPHA:3063 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Kyphosis, Small hand, Short foot, Seizure, Hip dysplasia, Scoliosis |
ORPHA:398069 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| C Syndrome |
|
Joint dislocation, Sacral dimple, Toe syndactyly, Short stature, Micromelia, Short neck, Microcep... |
ORPHA:1308 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Cowden Syndrome |
|
Short stature, Ataxia, Kyphosis, Abnormal cerebellum morphology, Seizure, Scoliosis, Macrocephaly... |
ORPHA:201 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Poliomyelitis |
|
Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations, Infectious encephalitis, Myelitis |
ORPHA:2912 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Eczema, Tarsal synostosis, Aplastic clavicle, Micrognathia, Wide anterior fontanel, Kyphosis, Cor... |
ORPHA:85199 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Wrist swelling, H... |
OMIM:309000 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Thrombocytopenia, Splenomegaly, Leukopenia, Hemophagocytosis, Pancre... |
OMIM:222700 |
| Schisis Association |
|
Micromelia, Microcephaly |
ORPHA:63862 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Disproportionate short-limb short ... |
OMIM:619479 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Short stature, Seizure, Scoliosis, Macrocephaly, Infectious enceph... |
ORPHA:293987 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Delayed ... |
OMIM:303600 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, ... |
ORPHA:2753 |
| Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
| Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Thrombocytopenia, Hepatosplenome... |
ORPHA:470 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Congenital hip dislocation, Short stature, Delayed cranial suture closure, Del... |
OMIM:278250 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Hemiplegia/hemiparesis, Arthritis, Seizure, Infectiou... |
ORPHA:761 |
| Cerebrocostomandibular Syndrome |
|
Short stature, Microcephaly, Micrognathia, Kyphosis, Posterior rib gap, Clinodactyly of the 5th f... |
ORPHA:1393 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Ankle joi... |
ORPHA:324625 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Microcephaly, Kyphosis, Growth delay, Triphalangeal thumb, Delayed puberty,... |
ORPHA:2232 |
| Williams Syndrome |
|
Micrognathia, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation de... |
ORPHA:904 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Broad hallux, Short stature, Ataxia, Splenomegaly, Hypoplastic ... |
OMIM:272200 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:609944 |
| 17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Short stature, Bowing of the legs, Kyphosis, Focal-onset seizure... |
ORPHA:97685 |
| Peters Plus Syndrome |
|
Sacral dimple, Toe syndactyly, Short stature, Rhizomelia, Micromelia, Short neck, Microcephaly, P... |
ORPHA:709 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Craniosynostosis, Metatarsus ... |
ORPHA:744 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Seizure |
OMIM:300942 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |
| Acromegaly |
|
Cerebral palsy, Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenos... |
ORPHA:963 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Pancreatitis |
OMIM:610475 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Proximal placement of thumb, Short neck, Hyperlordosis, Short thum... |
OMIM:113620 |
| Somatomammotropinoma |
|
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Jo... |
ORPHA:314769 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, Long toe, Microretrognathia, Arachnodactyly, Short stature, Pate... |
OMIM:619472 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Primrose Syndrome |
|
Hip contracture, Short stature, Ataxia, Metatarsus adductus, Kyphosis, Genu valgum, Knee flexion ... |
OMIM:259050 |
| Ramon Syndrome |
|
Short stature, Kyphosis, Seizure, Scoliosis, Juvenile rheumatoid arthritis |
OMIM:266270 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Patent ductus arteriosus, Conjunctivitis, Micrognathia |
OMIM:153400 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Micrognathia, ... |
ORPHA:558 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Kyphosis, Scoliosis, Delayed puberty |
OMIM:619718 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Seizure, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hepatomegaly, Short stature, Microcephaly, Splenomegaly, Seizure, Macroceph... |
ORPHA:585 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis |
OMIM:182210 |
| Alström Syndrome |
|
Thoracic scoliosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, Hep... |
ORPHA:64 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
