| Chromosome Xp11.22 Duplication Syndrome |
|
Macrocephaly |
OMIM:300705 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Rhizomelia, Short femur, Disproportionate short-limb short stature, Epiphyseal sti... |
OMIM:600121 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Short stature, Micromelia, Humeroradi... |
ORPHA:2019 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara,... |
OMIM:601438 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Severe short stature, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, S... |
OMIM:619598 |
| Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Acromesomelia, A... |
OMIM:200700 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Short stature, Micromelia, Pos... |
ORPHA:2491 |
| Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Feingold Syndrome 2 |
|
Short thumb, Secondary microcephaly, Short stature, Short middle phalanx of the 5th finger, 2-3 t... |
OMIM:614326 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:614023 |
| Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
| Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
| Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Metaphyseal cupping, Short stature, Irregular capital femoral epiphysis, Short fem... |
OMIM:616716 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Lower-limb metaphyseal irregularity, Severe short stature, Genu varum, Irregular femoral epiphysi... |
OMIM:618728 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deviation of finger, Short humerus, Rhizomelia, Short metacarpal, Deformed humeral heads, Brachyd... |
ORPHA:2831 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Severe postnatal growth retardation, Dislocated radial head, Absent proximal... |
OMIM:249600 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... |
ORPHA:75508 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Short stature,... |
OMIM:171480 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormal distal phalanx morphology of finger, Macrocephaly, Abnormality of the humerus, Synostosi... |
ORPHA:1275 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic scapulae, Short s... |
OMIM:602471 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... |
ORPHA:2141 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... |
OMIM:142900 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... |
ORPHA:2878 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Short palm, Micrognathia, Short 1st metacarpal, Elbow dislocation |
ORPHA:93328 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb... |
ORPHA:1570 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... |
OMIM:186500 |
| Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
| Thalidomide Embryopathy |
|
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Short statur... |
ORPHA:3312 |
| Omodysplasia 2 |
|
Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Limited elbow flexion, F... |
OMIM:164745 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Microcephaly, Epiphyseal stippling, Micrognathia, Disproportionate sho... |
OMIM:222765 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:600546 |
| Acromesomelic Dysplasia 2C |
|
Single transverse palmar crease, Hip dislocation, Distal femoral bowing, Short thumb, Hypoplasia ... |
OMIM:201250 |
| Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in epiphyseal cartilage... |
OMIM:108720 |
| Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Increased carrying angle, Short tibia, Madelung deformity, Short toe,... |
OMIM:127300 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Intrauterine growth retardation, Relative macrocephaly, Small hand, Micrognathia, Clinodactyly, A... |
ORPHA:254525 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
| Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
| Heart-Hand Syndrome Type 2 |
|
Abnormality of the humerus, Hand polydactyly, Hemiatrophy, Aplasia/Hypoplasia of the radius, Abno... |
ORPHA:1350 |
| Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Short stature, Long fingers, Microcephaly, Long toe, Arachnodactyly, ... |
OMIM:619489 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Madelung deformity, Dorsal subluxation of ul... |
ORPHA:240 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity |
OMIM:605899 |
| Acro-Renal-Ocular Syndrome |
|
Short humerus, Radial club hand, Short thumb, Finger syndactyly, Short distal phalanx of the thum... |
ORPHA:959 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Progressive microcephaly, Short ribs, Rhizomelia, Short tibia, Short femur, Talipe... |
OMIM:607143 |
| Ulnar Hypoplasia |
|
Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... |
OMIM:191440 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Intrauterine growth retardation, Short stature, Relative macrocephaly, Severe intrauterine growth... |
ORPHA:231144 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibula morphology, Ulnar devi... |
ORPHA:1836 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macrocephaly, Short humerus, Lateral femoral bowing, Short stature, Relative macrocephaly, Bowing... |
OMIM:239000 |
| Autosomal Recessive Omodysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Short stature, Abnormal morphology of the radius, Mic... |
ORPHA:93329 |
| Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Madelun... |
OMIM:249700 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Se... |
ORPHA:3344 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Agitation |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
| Codas Syndrome |
|
Short humerus, Broad skull, Congenital hip dislocation, Proximal placement of thumb, Delayed ossi... |
OMIM:600373 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Severe short stature, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ... |
OMIM:184253 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal ... |
ORPHA:420794 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Duane-Radial Ray Syndrome |
|
Short humerus, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, Absent th... |
OMIM:607323 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the ulna, Delayed puberty, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpa... |
OMIM:181450 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Short thumb |
OMIM:609054 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... |
ORPHA:3320 |
| Phenylketonuria |
|
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... |
OMIM:261600 |
| Boomerang Dysplasia |
|
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol... |
ORPHA:1263 |
| Atelosteogenesis Type Iii |
|
Club-shaped distal femur, Elbow dislocation, Ulnar deviation of the wrist, Abnormality of the hum... |
ORPHA:56305 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Hand polydactyly, Absent radius, Proximal placement of thumb |
OMIM:314390 |
| Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... |
ORPHA:96369 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... |
OMIM:608940 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Catel-Manzke Syndrome |
|
Short humerus, Camptodactyly, Intrauterine growth retardation, Short metacarpal, Micrognathia, Sh... |
OMIM:616145 |
| Omodysplasia 1 |
|
Limited elbow extension, Anterolateral radial head dislocation, Short humerus, Rhizomelia, Short ... |
OMIM:258315 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Hyperactivity |
OMIM:239500 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip dislocation, Short thumb, Micromelia, Shoulder flexion contracture, Bowed humerus, Microcepha... |
OMIM:210710 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Elbow dislocation, Coxa valga, Mesomelia, Radioulnar dislocat... |
OMIM:164900 |
| Femoral-Facial Syndrome |
|
Short humerus, Short fifth metatarsal, Absent vertebra, Short fourth metatarsal, Missing ribs, Hy... |
OMIM:134780 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Cortical thickening... |
ORPHA:93324 |
| Lennox-Gastaut Syndrome |
|
Aggressive behavior, Personality disorder, Hyperactivity |
ORPHA:2382 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Abnormal forearm bone morphology, Phocomelia, Short ribs, Hypoplasia of the radius... |
ORPHA:3404 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
| Melnick-Needles Syndrome |
|
Limited elbow extension, Short distal phalanx of finger, Short humerus, Hip dislocation, Coxa val... |
OMIM:309350 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... |
OMIM:609945 |
| Landau-Kleffner Syndrome |
|
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Depression,... |
ORPHA:98818 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... |
ORPHA:3077 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Delayed puberty, Postnatal growth retardation, Microcephaly |
OMIM:618985 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Disproportionate short-limb short stature, Short lo... |
OMIM:619479 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior |
OMIM:619467 |
| Insulin-Like Growth Factor I Deficiency |
|
Intrauterine growth retardation, Short stature, Microcephaly, Micrognathia, Postnatal growth reta... |
OMIM:608747 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Short stature, Rhizomelic arm shortening, Brachydactyly |
ORPHA:508542 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short stature, Tapered finger, Short femur, Microcephaly |
OMIM:618367 |
| Cranioectodermal Dysplasia 1 |
|
Short humerus, Short distal phalanx of finger, Broad distal phalanges of all fingers, Flattened e... |
OMIM:218330 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal cupping, Rhizomelia, Bowed humerus, Metaphyseal irregularity, Short 5th metacarpal, R... |
OMIM:618019 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... |
OMIM:619135 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Postnatal growth retardation, Microcephaly |
OMIM:618160 |
| Baller-Gerold Syndrome |
|
Forearm undergrowth, Oligodactyly, Patellar aplasia, Short humerus, Carpal bone aplasia, Severe s... |
OMIM:218600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abnormal shoulder ... |
OMIM:274000 |
| Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Microcephaly, Iliac crest serration, Multicentric ossification of proximal hume... |
OMIM:223800 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bilateral talipes equinovarus, Hypoplastic scapulae, Short clavicles, Bowed humerus, Hypoplastic ... |
OMIM:618022 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity |
OMIM:301013 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Micrognathia, 10 pairs of ribs, Microcephaly, 11 pairs... |
OMIM:117650 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
ORPHA:382 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short distal phalanx of finger, Proximal femoral epiphysiolysis, Microcephaly, Radial bowing, Sho... |
OMIM:210720 |
| Trigeminal Neuralgia |
|
Allodynia, Depression, Episodic paroxysmal anxiety |
ORPHA:221091 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Polydactyly, Short femur, Microcephaly, Growth delay |
ORPHA:17 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... |
OMIM:618150 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Short humerus, Pelvic bone exostoses, Coxa valga, Short clavicles, Growt... |
OMIM:304150 |
| Roberts-Sc Phocomelia Syndrome |
|
Aplasia of the ulna, Short humerus, Absent radius, Absent thumb, Wrist flexion contracture, Phoco... |
OMIM:268300 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Self-mutilation, Aggressive behavior, Hyperactivity |
OMIM:615516 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Ulnar deviation of the hand, Short ribs, Short tibia, In... |
OMIM:620076 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Wiedemann-Rautenstrauch Syndrome |
|
Macrocephaly, Short humerus, Hypoplastic ilia, Genu varum, Intrauterine growth retardation, Short... |
OMIM:264090 |
| Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Hyperactivity, Irritability |
OMIM:275000 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:615190 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short humerus, Camptodactyly of finger, Hypoplastic ilia, Hip dysplasia, Thin long bone diaphyses... |
ORPHA:3455 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, Self-injurious be... |
ORPHA:449291 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bilateral talipes equinovarus, Wrist flexion contracture, Bowed ... |
OMIM:609465 |
| Occipital Horn Syndrome |
|
Down-sloping shoulders, Hip dislocation, Hip dysplasia, Abnormality of fibula morphology, Absent ... |
ORPHA:198 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Osteogenesis Imperfecta, Type Xvii |
|
Thin metacarpal cortices, Hip dislocation, Thin long bone diaphyses, Short stature, Bowed humerus |
OMIM:616507 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Limited elbow extension, Capitate-hamate fusion, Disproportionate short-tru... |
OMIM:272460 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
| Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity |
OMIM:620047 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Dysphagia, Allodynia |
OMIM:603041 |
| Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
