| Chromosome Xp11.22 Duplication Syndrome |
|
Macrocephaly |
OMIM:300705 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... |
OMIM:600121 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Severe... |
OMIM:619598 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short stature, Micr... |
ORPHA:2491 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Feingold Syndrome 2 |
|
Postnatal growth retardation, Secondary microcephaly, 2-3 toe syndactyly, Short middle phalanx of... |
OMIM:614326 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:614023 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Acrocapitofemoral Dysplasia |
|
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... |
OMIM:607778 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr... |
OMIM:616716 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... |
ORPHA:2831 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon... |
OMIM:618728 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Severe postnatal growth retardation, Elbow flexion contracture, Forearm u... |
OMIM:249600 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv... |
ORPHA:75508 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... |
OMIM:602471 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the hume... |
ORPHA:1275 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... |
ORPHA:2878 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Elbow dislocation |
ORPHA:93328 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Pandas |
|
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... |
ORPHA:1570 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... |
OMIM:211350 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Thalidomide Embryopathy |
|
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... |
ORPHA:3312 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... |
OMIM:164745 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, Abnormal pel... |
OMIM:222765 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity |
OMIM:620448 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Atelosteogenesis, Type I |
|
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... |
OMIM:108720 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:600546 |
| Leri-Weill Dyschondrosteosis |
|
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... |
OMIM:127300 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Micrognathia, Intrau... |
ORPHA:254525 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Decreased fibular diameter, Arachnodactyly, Long fingers, Short sta... |
OMIM:619489 |
| Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... |
ORPHA:1350 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly, Severe intra... |
ORPHA:231144 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... |
ORPHA:240 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Postnatal growth retardation, Radial club hand... |
ORPHA:959 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior |
OMIM:605899 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Progressive microcephaly, Short ribs, Short hum... |
OMIM:607143 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... |
OMIM:191440 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Autosomal Recessive Omodysplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Short stature,... |
ORPHA:93329 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macrocephaly, Relative macrocephaly, Bowing of the long bones, Lateral femoral bowing, Short stat... |
OMIM:239000 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... |
ORPHA:1836 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor... |
ORPHA:420794 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal,... |
OMIM:600373 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... |
OMIM:184253 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5... |
OMIM:181450 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Boomerang Dysplasia |
|
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... |
ORPHA:1263 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... |
ORPHA:56305 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... |
OMIM:142900 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Hand polydactyly, Short humerus, Proximal placement of thumb |
OMIM:314390 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Catel-Manzke Syndrome |
|
Postnatal growth retardation, Genu valgum, Clinodactyly of the 5th finger, Single transverse palm... |
OMIM:616145 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:261600 |
| Omodysplasia 1 |
|
Limited elbow extension, Fibular hypoplasia, Limited elbow flexion/extension, Rhizomelia, Disprop... |
OMIM:258315 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Microcephaly, Shor... |
OMIM:210710 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Postnatal growth retardation, Thin long bone diaphyses, Cortical thickening of long bone diaphyse... |
ORPHA:93324 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... |
OMIM:164900 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Ulbright-Hodes Syndrome |
|
Postnatal growth retardation, Hypoplasia of the radius, Fibular aplasia, Short ribs, Severe intra... |
ORPHA:3404 |
| Melnick-Needles Syndrome |
|
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq... |
OMIM:309350 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Absent vertebra, Syndacty... |
OMIM:134780 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Disproportionate short-limb short stature, Bowed humerus, Short long bone, Short humerus, Brachyd... |
OMIM:619479 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Delayed puberty, Postnatal growth retardation, Microcephaly, Short stature |
OMIM:618985 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short stature, Short humerus, Brachydactyly |
ORPHA:508542 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Disproportionate short-limb short stature, Short long bone, Femoral bowing, Relative macrocephaly... |
OMIM:618019 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short stature, Microcephaly, Short humerus, Short femur, Tapered finger |
OMIM:618367 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Single transverse palmar crease, Trip... |
OMIM:218330 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Baller-Gerold Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Limited elbow movement, Patellar hypoplasia, Ul... |
OMIM:218600 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Microcephaly, Short stature |
OMIM:618160 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... |
OMIM:619135 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bilateral talipes ... |
OMIM:618022 |
| Cerebrocostomandibular Syndrome |
|
Postnatal growth retardation, 10 pairs of ribs, Clinodactyly of the 5th finger, 11 pairs of ribs,... |
OMIM:117650 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Clinodactyly of the 5th finger, Short stature, Microcephaly, Microg... |
OMIM:608747 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response |
ORPHA:309246 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Tibial bowing, Microcephaly, Intrauterine growth retardation, Short dista... |
OMIM:210720 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Microcephaly, Growth delay, Short humerus, Short femur |
ORPHA:17 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Saul-Wilson Syndrome |
|
Postnatal growth retardation, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the ... |
OMIM:618150 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Genu valgum, Short clavicles, Growth delay, Pelvic bone exostoses, Short... |
OMIM:304150 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Postnatal growth retardation, Aplasia of the ulna, Radial deviation of fi... |
OMIM:268300 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... |
OMIM:620076 |
| Trigeminal Neuralgia |
|
Depression, Allodynia |
ORPHA:221091 |
| Wiedemann-Rautenstrauch Syndrome |
|
Macrocephaly, Talipes equinovarus, Slender long bone, Hypoplastic ilia, Short femur, Short statur... |
OMIM:264090 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Allodynia |
ORPHA:51890 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:615190 |
| Wiedemann-Rautenstrauch Syndrome |
|
2-3 toe syndactyly, Relative macrocephaly, Severe intrauterine growth retardation, Hypoplastic il... |
ORPHA:3455 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... |
ORPHA:449291 |
| Al-Gazali Syndrome |
|
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist flexion con... |
OMIM:609465 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Occipital Horn Syndrome |
|
Abnormal fibula morphology, Humerus varus, Abnormality of the wrist, Genu valgum, Large iliac win... |
ORPHA:198 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Agitation, Abnormal fear-induced behavior, Restlessness |
ORPHA:100924 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Osteogenesis Imperfecta, Type Xvii |
|
Thin metacarpal cortices, Bowed humerus, Thin long bone diaphyses, Short stature, Hip dislocation |
OMIM:616507 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:272460 |
| Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
| Spinal Cord Injury |
|
Allodynia |
ORPHA:90058 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
| Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia, Dysphagia |
OMIM:603041 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353277 |
