Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... |
OMIM:609324 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Gait disturbance, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis ... |
ORPHA:2501 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of me... |
OMIM:250460 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long... |
ORPHA:174 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis |
OMIM:616311 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... |
OMIM:609052 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Hypochondroplasia |
|
Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Lum... |
OMIM:146000 |
Pseudoachondroplasia |
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Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Flattened femoral head, Abnormality of the vertebral column, Arthralgia of the hip, Abnormal inte... |
ORPHA:99642 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Arthralgia of the hip, Flat ... |
OMIM:614135 |
Hypochondroplasia |
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Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abn... |
ORPHA:429 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Pear-sh... |
OMIM:602111 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Metaphyseal... |
ORPHA:93356 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... |
ORPHA:166011 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Multiple Metaphyseal Dysplasia |
|
Gait disturbance, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad dis... |
ORPHA:93430 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Coro... |
OMIM:256050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Talipes equinovarus, Small hand, Kyphosis, Hyperactivity, Hip dislocation, Short foot, Scoliosis |
OMIM:300434 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... |
ORPHA:93314 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Brachydactyly, Hip dysplasi... |
ORPHA:2370 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus, Kyphosis |
ORPHA:85288 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... |
OMIM:608728 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... |
OMIM:609616 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Metaphyseal dysplasia, Short ilia... |
ORPHA:93316 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Weismann-Netter Syndrome |
|
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Scol... |
OMIM:112350 |
Insulin-Like Growth Factor I Deficiency |
|
Radial deviation of finger, Hyperactivity, Clinodactyly |
OMIM:608747 |
Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
Thoracomelic Dysplasia |
|
Gait disturbance, Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Genu va... |
ORPHA:1803 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ... |
OMIM:614376 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy... |
OMIM:619598 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
Hip Dysplasia, Beukes Type |
|
Abnormality of epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the femoral head, ... |
ORPHA:2114 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... |
ORPHA:1159 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short 4th metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Limb u... |
OMIM:118651 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... |
ORPHA:2631 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperactivity, Ataxia, Hyperglycinuria |
OMIM:239500 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... |
OMIM:223800 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Delayed proximal femoral epiphyseal... |
ORPHA:93311 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Dystonia, Elevated circulating creatinine concentration, Dysuria, Hyperuri... |
ORPHA:79233 |
Coxopodopatellar Syndrome |
|
Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... |
ORPHA:1509 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo... |
OMIM:602557 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Metaphyseal dappling, Metaphyseal irregularity, Platyspondyly, Genu valgum, Co... |
OMIM:184250 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormally shaped carpal bones, Acromesomelia, Cuboidal metacarpal, Hip disloc... |
ORPHA:968 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Renal tubular dysfunction, Tibial bowing, Fibular bowing, Bowing of the le... |
OMIM:307800 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Tibial bowing, Radial bowing, Horizontal sacrum, Talipes equinovaru... |
OMIM:108721 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Thickened cortex of long bones, Metatarsal diaphyseal endosteal scleros... |
OMIM:144750 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Glomerulonephritis, Non-... |
OMIM:607665 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Lytic defects of humeral ... |
OMIM:601376 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Microscop... |
ORPHA:567544 |
Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... |
ORPHA:83468 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Gait disturbance, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone, Spina... |
ORPHA:2840 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Otospondylomegaepiphyseal Dysplasia |
|
Tibial bowing, Fibular bowing, Coronal cleft vertebrae, Abnormal vertebral morphology, Abnormally... |
ORPHA:1427 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... |
OMIM:304950 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Dystonia, Gait disturbance, Elevated circulating creatine kinase concentration, Back pain, Abnorm... |
OMIM:167320 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612926 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Throm... |
ORPHA:275555 |
Sillence Syndrome |
|
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... |
ORPHA:3168 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Abnormal pelvis bone morphology |
ORPHA:2206 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... |
ORPHA:54057 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Nephronophthisis, Abnormality of the metaphysis, Short foo... |
ORPHA:474 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Short phalanx of finger, Short lo... |
OMIM:300106 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl... |
OMIM:184253 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly |
OMIM:300928 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Femoral-Facial Syndrome |
|
Long penis, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Polycystic kidney dysplas... |
ORPHA:1988 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polyuria, Renal insufficiency, Stage 5 chronic kid... |
OMIM:619468 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
2-3 toe syndactyly, Elevated circulating creatine kinase concentration, Shortening of all distal ... |
OMIM:616809 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
ORPHA:329918 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the ulna, Rudimenta... |
OMIM:249700 |
Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Vertebral wedging, Platyspondyly, Abnormality of pelvic girdle bone m... |
OMIM:610967 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... |
ORPHA:93315 |
Pycnodysostosis |
|
Spondylolysis, Osteolytic defects of the distal phalanges of the hand, Spondylolisthesis, Abnorma... |
OMIM:265800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Bowing of the legs, Metaphyseal widening, Abnormality of epiphysis morphology, Abnorm... |
ORPHA:93352 |
Shox-Related Short Stature |
|
Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Short neck, Scoliosis, Ulnar radi... |
ORPHA:314795 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... |
ORPHA:2725 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Gait disturbance, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdl... |
ORPHA:2928 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Hematuria, Elevated circulating creatinine concentration, Anemia, Incre... |
ORPHA:91547 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Hypoplasia of the odontoid process, Metaphyseal dysplasia, Impaired lymphocyte... |
OMIM:250250 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormalit... |
ORPHA:93160 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration |
OMIM:616733 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Hyperactivity, Short... |
OMIM:614613 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Chromosome 3Q29 Deletion Syndrome |
|
Tapered finger, Long fingers, Hyperactivity, Clinodactyly of the 5th finger, Gait ataxia |
OMIM:609425 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Scoliosis, Talipes equinovarus, Tapered finger |
OMIM:617773 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Ck Syndrome |
|
Long fingers, Kyphoscoliosis, Hyperactivity, Long toe, Lumbar hyperlordosis |
ORPHA:251383 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
2-3 toe syndactyly, Short finger, Hyperactivity, Thoracic kyphosis, Clinodactyly of the 5th finge... |
OMIM:619467 |
Ck Syndrome |
|
Kyphosis, Abnormal digit morphology, Hyperactivity, Hyperlordosis, Scoliosis |
OMIM:300831 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Prominent calcaneus, Toe clinodactyly, Short fourth metatarsal, Short long bone, Carpal bone hypo... |
ORPHA:457395 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Gait disturbance, Tibial bowing, Abnormality of femur morphology, Abnormal ver... |
ORPHA:352540 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Kyphoscoliosis |
OMIM:615541 |
Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Long fingers, Kyphosis, Hyperactivity, Overlapping fingers, Over... |
OMIM:300960 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Sacral dimple, Elevated circulating glutaric acid concentration, Ab... |
ORPHA:35706 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormality of femur morphology, Limb undergrowth, Abnormal form of the verteb... |
ORPHA:3429 |
Sheldon-Hall Syndrome |
|
Tarsal synostosis, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, O... |
ORPHA:1147 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Rhizomelia, Stippled calcification proximal humeral epiphyses, Sho... |
OMIM:222765 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Scoliosis |
OMIM:618362 |
Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis |
ORPHA:2768 |
Moebius Syndrome |
|
Gait disturbance, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia... |
OMIM:157900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, Decreased glomerular filt... |
OMIM:174000 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Hydroxyprolinuria, Bowing of the long bones, Vertebral compression f... |
OMIM:602080 |
Fraxe Intellectual Disability |
|
Hyperactivity, Clinodactyly of the 5th finger |
ORPHA:100973 |
Codas Syndrome |
|
Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodi... |
ORPHA:1458 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Tibial bowing, Platyspondyly, Cervical kyphosis, Femoral bowing, Absent ossification of capital f... |
OMIM:245160 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Tapered finger |
OMIM:616977 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormality of the vertebral column, Club-shaped distal femur, Metaphyseal widening, Erlenmeyer f... |
OMIM:123000 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... |
OMIM:274150 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... |
OMIM:235400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Tibial bowing, Fibular bowing, Nephrocalcinosis, Bowing of the legs, Proximal tub... |
OMIM:300554 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Hyperactivity, Ataxia, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chronic kidney disease, Elevated circul... |
OMIM:613095 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Cone-s... |
ORPHA:397973 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve... |
ORPHA:1788 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormality of the vertebral column, Abnormality of pelvic girdle bone morphology, Thickened cort... |
OMIM:607634 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Long fingers, Short neck, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Dent Disease 1 |
|
Metaphyseal irregularity, Hypophosphatemia, Microscopic hematuria, Femoral bowing, Chronic kidney... |
OMIM:300009 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hypouricemia, Decreased urinary urate, Decreased proportion of CD3-po... |
ORPHA:760 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... |
ORPHA:49041 |
Morm Syndrome |
|
Hyperactivity, Micropenis |
ORPHA:75858 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia,... |
ORPHA:90060 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... |
ORPHA:2502 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... |
ORPHA:411634 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Tarsal stippling, Elevated 8(9)-cholestenol, Polydactyly, Hemivertebrae, Postaxia... |
OMIM:302960 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... |
ORPHA:29073 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Nonossified fifth metatarsal, Short metatarsal, Broad hallux, Bulbous tips of toes, ... |
OMIM:304120 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Broad hallux |
OMIM:617126 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... |
ORPHA:439232 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
2-3 toe syndactyly, Kyphoscoliosis, Hyperactivity, Lymphopenia, Scoliosis |
ORPHA:391307 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Increased level of hippuric acid in urine,... |
OMIM:261600 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Splenomegaly, Abn... |
ORPHA:3035 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregul... |
OMIM:241530 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... |
OMIM:231070 |
Gand Syndrome |
|
Hyperactivity, Long fingers, Long toe |
OMIM:615074 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Hypophosphatemia, De... |
OMIM:600081 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Leukocytosis, Elevated circulating creatine kinase concentration, Hypervalinemia, Extre... |
OMIM:615673 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Broad thumb, Syndactyly, Broad hallux |
OMIM:613684 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Lethargy |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Small hand, Sandal gap, Kyphosis, Hyperactivity, Micropenis, Short foot, Gait ataxia... |
OMIM:300354 |
Caudal Regression Sequence |
|
Ureteral duplication, Abnormality of the ureter, Talipes equinovarus, Hypoplastic vertebral bodie... |
ORPHA:3027 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis, Joint contracture o... |
ORPHA:352490 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Abnormality of the ver... |
OMIM:166600 |
Tibial Hemimelia |
|
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... |
ORPHA:93322 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Abnormality of pelvic ... |
ORPHA:175 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephrotic syndrome, Decrea... |
ORPHA:85450 |
Campomelic Dysplasia |
|
Hydronephrosis, Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Bowing of t... |
ORPHA:140 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, Short toe, Sho... |
OMIM:250220 |
Seckel Syndrome 1 |
|
Hypospadias, Ivory epiphyses, Dislocated radial head, Hypoplasia of proximal fibula, Sandal gap, ... |
OMIM:210600 |
Coxoauricular Syndrome |
|
Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology, M... |
ORPHA:1508 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Clinodactyly, Sandal gap |
OMIM:617752 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, Short humerus, Club-shaped proximal... |
OMIM:108720 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Platyspondyly, Fl... |
OMIM:211350 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Fibular bowing, Tibial bowing, Subperiosteal bone resorption, Bowing o... |
OMIM:264700 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Broad long bones, Limb undergrowth, Platyspondyly, Crumpled long bones, Abnormalit... |
OMIM:166210 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia |
OMIM:612716 |
Stuve-Wiedemann Syndrome 1 |
|
Abnormal metaphyseal trabeculation, Broad ischia, Tibial bowing, Hypoplastic iliac body, Adducted... |
OMIM:601559 |
2Q23.1 Microdeletion Syndrome |
|
Sandal gap, Hyperactivity, Ataxia, Hip dysplasia, Short palm, Clinodactyly of the 5th finger, Hyp... |
ORPHA:228402 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Hype... |
OMIM:271980 |
Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypo... |
ORPHA:1328 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Scoliosis, Broad-based gait |
ORPHA:457260 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Avascular necrosis of the capit... |
ORPHA:247691 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Hypoplasia of the odontoid process, Vertebral fusion, Capitate-hamate fusion, ... |
OMIM:272460 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Iron deficiency anemia, Small hand, Decreased serum crea... |
OMIM:618885 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Small hand, Sandal gap, Kyphosis, Down-sloping shoulders, Short foot, Hyperactivi... |
ORPHA:85293 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Abnormality of pelvic girdle bone morphology, Reduced red cell adenosine deami... |
OMIM:102700 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tapered finger, Small hand, Sandal gap, Hyperactivity, Short foot, Clinodactyly |
OMIM:618089 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Short middle phalanx of finger, Tibial bowing, Proximal femoral epiphysiolysis, Hypo... |
OMIM:210720 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... |
ORPHA:36234 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Short neck |
OMIM:613192 |
Mucopolysaccharidosis Type 7 |
|
Metatarsus adductus, Mucopolysacchariduria, Diaphyseal thickening, Epiphyseal stippling, Anterior... |
ORPHA:584 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Short palm, Scoliosis, Brachydactyly |
OMIM:182290 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Hyperactivity, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb |
ORPHA:412035 |
Harrod Syndrome |
|
Hypospadias, Arachnodactyly, Kyphosis, Multicystic kidney dysplasia, Abnormality of pelvic girdle... |
ORPHA:2115 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Abnormality of medullary pyramid morphology, Decreased glomerular fil... |
ORPHA:2260 |
Chromosome 10Q26 Deletion Syndrome |
|
Toe syndactyly, Radial deviation of finger, Hyperactivity, Micropenis, Broad-based gait, Vesicour... |
OMIM:609625 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Tibial bowing, Kyphosis, Slender long bone, Protrusio acetabuli, Scol... |
OMIM:259420 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Metaphyseal irregularity, Lo... |
OMIM:610442 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Clinodactyly, Brachydactyly |
OMIM:618027 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormality of pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wa... |
OMIM:618314 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Kyphosis, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Vitamin D-Dependent Rickets, Type 2A |
|
Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing of the legs, Hypocalcemic se... |
OMIM:277440 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Hyperlipidemia, Sandal gap, Finger syndactyly, Hyperactivity, Toe clinodactyly, Kyph... |
ORPHA:254346 |
Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Abnormal form of the verteb... |
ORPHA:1834 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Hypo... |
ORPHA:90038 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ... |
ORPHA:542323 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypokalemia, Leukopenia, Elevated circulating creatine kinase concentration, Neu... |
ORPHA:99826 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
19P13.3 Microduplication Syndrome |
|
Long fingers, Kyphoscoliosis, Hip dislocation, Hip subluxation, Hip dysplasia, Hyperactivity, Cli... |
ORPHA:447980 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252900 |
Aredyld Syndrome |
|
Abnormality of the ureter, Splenomegaly, Abnormality of pelvic girdle bone morphology, Scoliosis,... |
ORPHA:1133 |
Histidinemia |
|
Hyperactivity, Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Talipes equinovarus, Camptodactyly of finger, Narrow vertebral interpedicular distance, Short pha... |
OMIM:143095 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Sandal gap |
OMIM:615516 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Club-shaped distal femur, Distal tapering femur, Coronal cleft vertebrae, Absent... |
ORPHA:56305 |
Cleidocranial Dysplasia |
|
Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Abnor... |
ORPHA:1452 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Hydronephrosis, Cutaneous finger syndactyly, Hypoalbuminemia, Talipes equinovar... |
OMIM:235510 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Hypoplastic vertebra... |
ORPHA:280651 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis, Spastic gait, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5... |
ORPHA:3079 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Hemivertebrae, Aplasia/Hypoplasi... |
ORPHA:1112 |
Fragile X Syndrome |
|
Hyperactivity, Scoliosis |
OMIM:300624 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen, Elevated ur... |
ORPHA:230 |
Osteogenesis Imperfecta |
|
Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Protrusio acetabuli, Femoral ... |
ORPHA:666 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metatarsal, Hyperactivity, Short metacarpal, Short toe, Short phalanx of finger |
OMIM:600430 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Hyperphosphaturia, Spinal canal stenosis, Genu varum, Tibial bowi... |
ORPHA:289176 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephrit... |
ORPHA:340 |
Cri-Du-Chat Syndrome |
|
Hypospadias, Metatarsus adductus, Short metatarsal, Hyperactivity, Short metacarpal, Syndactyly, ... |
OMIM:123450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Scoliosis, Broad-based gait |
OMIM:300958 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Trisomy 13 |
|
Hydronephrosis, Abnormality of the ureter, Kyphosis, Displacement of the urethral meatus, Multipl... |
ORPHA:3378 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Melnick-Needles Syndrome |
|
Gait disturbance, Hydronephrosis, Tibial bowing, Short clavicles, Anterior concavity of thoracic ... |
OMIM:309350 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Hyperactivity, Unilateral renal agenesis, Clinodactyly o... |
ORPHA:3306 |
Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Short long bone, S... |
ORPHA:1106 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Platyspondyly, Kyphosis, Short metacarpal, Vertebral compression fr... |
OMIM:610915 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... |
ORPHA:2097 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Phocomelia, Schinzel Type |
|
Fibular aplasia, Radial bowing, Hand oligodactyly, Hypoplasia of penis, Aplasia of the ulna, Bowi... |
ORPHA:2879 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Ureteral duplication, 2-3 toe syndactyly, Hyperactivity, Micropenis, Short thumb, Sa... |
OMIM:617516 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252920 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Generalized aminoaciduria, Tibial bowing, Subperiosteal bone resorption, Hypocalcemic... |
ORPHA:289157 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Atlantoaxial instability, Hip subluxation, ... |
OMIM:271665 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Scoliosis |
ORPHA:485350 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... |
OMIM:137920 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Kyphoscoliosis, Splenomegaly, Hyperactivity, Heparan sulfate excre... |
OMIM:252930 |
Legius Syndrome |
|
Dystonia, Polydactyly, Male urethral meatus stenosis, Nephrolithiasis, Clinodactyly of the 5th fi... |
ORPHA:137605 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia, Hyperactivity, Clinodactyly of the 5th finger, Attention deficit hyp... |
ORPHA:73272 |
Isolated Epispadias |
|
Urinary incontinence, Vesicoureteral reflux, Abnormality of pelvic girdle bone morphology, Anteri... |
ORPHA:93928 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Neonatal hyperbilirubinemia, Hyperactivity, Urinary incontine... |
OMIM:609727 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, H... |
ORPHA:247585 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tapered finger, Hyperactivity, Ataxia, Clinodactyly of the 5th finger, Scoliosis |
OMIM:618430 |
Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... |
ORPHA:449395 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Overlapping toe |
OMIM:617478 |
Myhre Syndrome |
|
2-3 toe syndactyly, Cone-shaped epiphysis, Vertebral fusion, Hypoplastic iliac wing, Short finger... |
OMIM:139210 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Hyperactivity, Clinodactyly ... |
ORPHA:485405 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Prominent fingertip pads |
OMIM:300558 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Sacral dimple, Congenital finger flexion contractures |
ORPHA:166108 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Splenomegaly, Hyperactivity, Short neck, Heparan sulfate excretion... |
OMIM:252940 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Yellow Fever |
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Leukocytosis, Anuria, Elevated circulating creatine kinase concentration, Elevated circulating cr... |
ORPHA:99829 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Attention deficit hyperactivity disorder, Hyperactivity, Micropenis |
OMIM:618504 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia, Hyperactivity, Scoliosis |
OMIM:610883 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... |
ORPHA:1422 |
Myoclonic-Astatic Epilepsy |
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Hyperactivity, Ataxia, Syndactyly, Unsteady gait, Attention deficit hyperactivity disorder |
ORPHA:1942 |
Distal Trisomy 17Q |
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Hallux valgus, Rhizomelia, Arachnodactyly, Genu valgum, Hyperactivity, Accessory spleen, Hand pol... |
ORPHA:3379 |
Cln5 Disease |
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Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Ataxia, Hyperactivity, Syndactyly, Camptodactyly, Short neck, Clinodactyly |
ORPHA:369891 |
Bladder Exstrophy And Epispadias Complex |
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Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Abnormality of pelvic girdle bone... |
OMIM:600057 |
Mental Retardation, Autosomal Dominant 7 |
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Hyperactivity, Hallux valgus, Gait disturbance, Ataxia |
OMIM:614104 |
X-Linked Creatine Transporter Deficiency |
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Athetosis, Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Ataxia |
ORPHA:52503 |
Sclerosteosis 1 |
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Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Sclerot... |
OMIM:269500 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Anemia, Clinodactyly, Acromesomelia, Hyperactivity, Sacral dimple, Short proximal phalanx of the ... |
ORPHA:261323 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Hyperactivity, Absent thumb |
OMIM:619239 |
Meier-Gorlin Syndrome 1 |
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Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... |
OMIM:224690 |
Koolen-De Vries Syndrome |
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Hydronephrosis, Vertebral fusion, Slender finger, Kyphosis, Hip dislocation, Hyperactivity, Hip d... |
OMIM:610443 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Gait disturbance, Urinary urgency, Urinary incontinence, Abnormality of pelvic girdle bone morpho... |
OMIM:601162 |
Intellectual Disability-Strabismus Syndrome |
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Hypospadias, Gait disturbance, Congenital finger flexion contractures, Rocker bottom foot, Talipe... |
ORPHA:363528 |
Mend Syndrome |
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2-3 toe syndactyly, Elevated 8(9)-cholestenol, Long fingers, Elevated 8-dehydrocholesterol, Kypho... |
ORPHA:401973 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Hypospadias, Long fingers, Broad distal phalanx of finger, Hyperactivity, Long toe |
ORPHA:363686 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hypospadias, Hallux valgus, Hydronephrosis, Toe syndactyly, Gait disturbance, Polydactyly, Pelvic... |
ORPHA:464306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Talipes equinovarus, Large hands, Shuffling gait, Hyperactivity, Micropenis, Short foot, Short di... |
OMIM:300534 |
Argininemia |
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Oroticaciduria, Spastic gait, Diaminoaciduria, Hyperammonemia, Hyperactivity, Hyperargininemia |
OMIM:207800 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Postaxial polydactyly, Hyperactivity, Hip dysplasia, Broad hallux, Unilateral renal agenesis, Cli... |
ORPHA:457284 |
47,Xyy Syndrome |
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Hypospadias, Hyperactivity, Micropenis, Finger clinodactyly, Attention deficit hyperactivity diso... |
ORPHA:8 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Chronic neutropenia, Metatarsus adductus, Tibial bowing, Talipes equinovarus, Large hands, Bifid ... |
ORPHA:500095 |
Gapo Syndrome |
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Abnormality of the metaphysis, Abnormality of pelvic girdle bone morphology, Abnormal form of the... |
ORPHA:2067 |
Cardiogenic Shock |
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Oliguria, Elevated circulating creatinine concentration |
ORPHA:97292 |
Schinzel-Giedion Midface Retraction Syndrome |
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Hypospadias, Hydronephrosis, Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Talipes equinov... |
OMIM:269150 |
Hyperlysinemia |
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Argininuria, Hypoornithinemia, Dysmetria, Cystinuria, Hyperammonemia, Hyperactivity, Tip-toe gait... |
ORPHA:2203 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Ataxia, Hyperactivity, Broad-based gait, Scoliosis |
ORPHA:98794 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Hypospadias, Penoscrotal transposition, Talipes equinovarus, Tapered finger, Hyperactivity, Short... |
OMIM:619148 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia |
ORPHA:85165 |
Glass Syndrome |
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Talipes equinovarus, Arachnodactyly, Hyperactivity, Broad-based gait, Camptodactyly |
OMIM:612313 |
Angelman Syndrome |
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Hyperactivity, Scoliosis, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Bone Marrow Failure Syndrome 3 |
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Metaphyseal dysplasia, Congenital hip dislocation, Hyperactivity, Acute myeloid leukemia, Pancyto... |
OMIM:617052 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, 2-3 toe syndactyly, Epiphyseal stippling, Elevated 7-dehydrocholesterol, Proximal pl... |
OMIM:270400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hydronephrosis, Polydactyly, Postaxial polydactyly, Elevated circulating creatinine concentration... |
OMIM:619534 |
Ellis Van Creveld Syndrome |
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Hypospadias, Abnormality of the ureter, Capitate-hamate fusion, Acute leukemia, Synostosis of car... |
ORPHA:289 |
X-Linked Adrenoleukodystrophy |
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Gait disturbance, Urinary bladder sphincter dysfunction, Hyperactivity, Attention deficit hyperac... |
ORPHA:43 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Reduced hematocrit, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria, Elevated... |
ORPHA:91500 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... |
ORPHA:139396 |
Distal Monosomy 12Q |
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Hydronephrosis, 2-3 toe syndactyly, Short middle phalanx of finger, Aplasia/Hypoplasia of the mid... |
ORPHA:96149 |
16P11.2P12.2 Microdeletion Syndrome |
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Toe syndactyly, Proximal placement of thumb, Hyperactivity, Short palm, Camptodactyly of finger |
ORPHA:261211 |
Mucopolysaccharidosis Type 3 |
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Gait disturbance, Mucopolysacchariduria, Loss of ambulation, Avascular necrosis of the capital fe... |
ORPHA:581 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis |
ORPHA:449291 |
7Q11.23 Microduplication Syndrome |
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Hypospadias, Hydronephrosis, Hemivertebrae, Dysmetria, Long fingers, Hyperactivity, Sacral dimple... |
ORPHA:96121 |
Dubowitz Syndrome |
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Hypospadias, Acute lymphoblastic leukemia, Hyperactivity, Sacral dimple, Syndactyly, Clinodactyly... |
OMIM:223370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Hyperactivity, Broad thumb, Arachnodactyly |
OMIM:309520 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Micropenis, Gait ataxia, Microphallus |
OMIM:300486 |
Wiedemann-Steiner Syndrome |
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Dilatation of renal calices, Tapered finger, Rhizomelia, Hyperactivity, Sacral dimple, Clinodacty... |
ORPHA:319182 |
Joubert Syndrome 1 |
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Renal cyst, Hyperactivity, Ataxia, Postaxial foot polydactyly, Postaxial hand polydactyly, Nephro... |
OMIM:213300 |
Monosomy 9Q22.3 |
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Abnormality of the vertebral column, Polydactyly, Kyphosis, Hyperactivity, Short neck |
ORPHA:77301 |
Witteveen-Kolk Syndrome |
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Hypospadias, Toe syndactyly, Proximal placement of thumb, Arachnodactyly, Abnormality of finger, ... |
OMIM:613406 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Ataxia, Preaxial polydactyly |
ORPHA:163681 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, Hydronephrosis, Hyperactivity, Thrombocytopenia, T lymphocytopenia, Autoimmune... |
OMIM:251260 |
Maternal Phenylketonuria |
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Bifid distal phalanx of the thumb, Hyperactivity, Bladder exstrophy, Clinodactyly, Brachydactyly |
ORPHA:2209 |
Hallermann-Streiff Syndrome |
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Metaphyseal widening, Hyperactivity, Slender long bone, Hyperlordosis, Scoliosis |
OMIM:234100 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Long fingers, Dislocated radial head, Congenital hip dislocation, Hyperactivity, Clinodactyly of ... |
OMIM:619512 |
Williams Syndrome |
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Hallux valgus, Gait imbalance, Abnormal form of the vertebral bodies, Abnormality of pelvic girdl... |
ORPHA:904 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity |
ORPHA:85327 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hypospadias, Tapered finger, Small hand, Hyperactivity, Micropenis, Short foot, Brachydactyly, Sc... |
OMIM:309590 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
Coffin-Siris Syndrome |
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Hypospadias, Horseshoe kidney, Short 5th finger, Hyperactivity, Scoliosis, Clinodactyly |
ORPHA:1465 |
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 |
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Hypospadias, Renal hypoplasia, Talipes equinovarus, Tapered finger, Kyphoscoliosis, Slender finge... |
OMIM:309580 |
Rubinstein-Taybi Syndrome 1 |
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Hypospadias, Polydactyly, Radial deviation of thumb terminal phalanx, Hypoplastic iliac wing, Bro... |
OMIM:180849 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hypospadias, Dystonia, Abnormality of the curvature of the vertebral column, Talipes equinovarus,... |
OMIM:619475 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Acanthocytosis, Bradykinesia, Hyperactivity, Urinary incontinence, At... |
OMIM:234200 |
Early Infantile Epileptic Encephalopathy |
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Dystonia, Short finger, Broad finger, Broad phalanx of the toes, Hyperactivity, Micropenis, Episo... |
ORPHA:1934 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Abscess, Anemia, Abnormal lumbar spine morphology, Tooth abscess, Hyperactivity, Chronic kidney d... |
ORPHA:642 |
Peters-Plus Syndrome |
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Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis, Hemivertebrae, Short metatar... |
OMIM:261540 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hypospadias, Abnormality of the curvature of the vertebral column, Hydronephrosis, Polydactyly, A... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hypospadias, Abnormality of the curvature of the vertebral column, Hydronephrosis, Polydactyly, A... |
ORPHA:353277 |
Oculoectodermal Syndrome |
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Bladder exstrophy, Hyperactivity, Short neck |
OMIM:600268 |
8Q24.3 Microdeletion Syndrome |
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Bilateral renal hypoplasia, Short hallux, Rocker bottom foot, Pelvic kidney, Long fingers, Congen... |
ORPHA:508488 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hypospadias, Abnormality of the curvature of the vertebral column, Hydronephrosis, Avascular necr... |
ORPHA:353281 |
Mucopolysaccharidosis Type 2 |
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Hyperactivity, Irregularity of vertebral bodies, Hip dysplasia, Splenomegaly |
ORPHA:580 |
Fetal Akinesia Deformation Sequence 1 |
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Rocker bottom foot, Talipes equinovarus, Slender long bone, Camptodactyly of finger, Abnormality ... |
OMIM:208150 |
Monosomy 22Q13.3 |
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Hydronephrosis, Large hands, Recurrent pyelonephritis, Hyperactivity, Sacral dimple, Vesicoureter... |
ORPHA:48652 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Tetrasomy 9P |
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Horseshoe kidney, Hydronephrosis, Hypoplastic scapulae, Talipes equinovarus, Small toe, Small han... |
ORPHA:3310 |
Choreoacanthocytosis |
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Lingual dystonia, Loss of ambulation, Elevated circulating creatine kinase concentration, Oromand... |
ORPHA:2388 |
Saethre-Chotzen Syndrome |
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Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... |
OMIM:101400 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |