| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Disproportionate short-limb short stature, Short h... |
OMIM:600121 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Humeroradial synostosis, Finger syndactyly, Short stature, Abnormal mor... |
ORPHA:2019 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Rhizomelia, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads,... |
OMIM:601438 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Wide distal femoral metaphysis, Short femoral neck, Rhizomelia, Hip dysplasia, Short femur, Hypop... |
OMIM:619598 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Short stature, Abnormality of the wrist, Split hand, Microcephaly, Micr... |
ORPHA:2491 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short stature, Short middle phalanx o... |
OMIM:614326 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Postnatal growth retardation, Microcephaly |
OMIM:614023 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent forearm, Aplasia of metacarpal bones, S... |
OMIM:200500 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short stature, Short femoral neck, Swan... |
OMIM:616716 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Coxa vara, Rhizomelia, Short metacarpal, Brachydactyly, Deviation of finger, Deforme... |
ORPHA:2831 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Dislocated radial head, Forearm undergrowth, Severe postnatal growth r... |
OMIM:249600 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Short stature, Asymmetric radi... |
OMIM:171480 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Rhizomelia, Short stature, Micrognathia, Hip dislocation, Short humerus, Hypoplasia of the ulna, ... |
OMIM:602471 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Macrocephaly, Clinodactyly of the 5th fin... |
ORPHA:1275 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Abnormality of th... |
ORPHA:2878 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Micrognathia, Elbow dislocation, Short palm, Short humerus |
ORPHA:93328 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F... |
OMIM:211350 |
| Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Limited elbow ... |
OMIM:164745 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Micrognathia, Epiphyseal stippling, Short humerus, Abnormal pelvic girdle bone morpho... |
OMIM:222765 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation, Microcephaly |
OMIM:600546 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Elbow dislocation, Short femur, Limb u... |
OMIM:108720 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Progressive microceph... |
OMIM:607143 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... |
OMIM:127300 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Small hand, Micrognathia, Clinodactyly, Relative macrocephaly, Intrauterine growth retardation, S... |
ORPHA:254525 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... |
ORPHA:66624 |
| Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long toe, Microcephaly, Arachnodactyly, Long fingers, ... |
OMIM:619489 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... |
ORPHA:959 |
| Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Relative macrocephaly, Clinodactyly of the 5th finger, Severe intrauterine growth ... |
ORPHA:231144 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short stature, Relative macrocephaly, Short humerus, Macrocephaly, Lateral femoral bowing, Bowing... |
OMIM:239000 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Short stature, Abnormality of the humerus, Synostosis of carpal bones, C... |
ORPHA:1836 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
| Autosomal Recessive Omodysplasia |
|
Rhizomelia, Short stature, Micrognathia, Abnormal morphology of the radius, Elbow dislocation, Hy... |
ORPHA:93329 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Severe short stature, Abnormality of t... |
ORPHA:3344 |
| Codas Syndrome |
|
Short phalanx of finger, Genu valgum, Absent epiphyses, Short stature, Short metacarpal, Hypoplas... |
OMIM:600373 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Short tubular bones of the hand, Coxa vara, Short long bone, Short greater sciatic n... |
OMIM:184253 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Cono-Spondylar Dysplasia |
|
Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal ... |
ORPHA:420794 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of... |
OMIM:607323 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
| Ulnar-Mammary Syndrome |
|
Short 5th toe, Aplasia of the 3rd finger, Aplasia of the 5th metacarpal, Deformed radius, Short 5... |
OMIM:181450 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:609054 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Micrognathia, Hip dislocation, Clinoda... |
ORPHA:3320 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... |
OMIM:261600 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... |
OMIM:601376 |
| Atelosteogenesis Type Iii |
|
Short tibia, Hand clenching, Vertebral hypoplasia, Short tubular bones of the hand, Ulnar deviati... |
ORPHA:56305 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Hand polydactyly, Proximal placement of thumb, Absent radius |
OMIM:314390 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Rhizomelia, Coxa vara, Short metacarpal, Hypoplast... |
OMIM:608940 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Slender finger, Microcephaly, Long fingers, Talipes equinovarus, Postnatal growth retar... |
OMIM:613355 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Catel-Manzke Syndrome |
|
Short toe, Genu valgum, Short metacarpal, Micrognathia, Talipes equinovarus, Camptodactyly, Clino... |
OMIM:616145 |
| Omodysplasia 1 |
|
Short tibia, Limited elbow flexion, Anterolateral radial head dislocation, Rhizomelia, Micrognath... |
OMIM:258315 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, Limb un... |
OMIM:210710 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Small hand, Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone ... |
ORPHA:93324 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Preaxial hand polydactyly, Limited elbow movement, Short stature, Humeror... |
OMIM:134780 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
| Ulbright-Hodes Syndrome |
|
Short sternum, Humeroradial synostosis, Birth length less than 3rd percentile, Short ribs, Microg... |
ORPHA:3404 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Personality disorder |
ORPHA:2382 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Coxa valga, Micrognathia, Hip dislo... |
OMIM:309350 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnormal aggressive, ... |
ORPHA:3077 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Delayed puberty, Microcephaly, Short stature, Postnatal growth retardation |
OMIM:618985 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety |
OMIM:619467 |
| Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Clinodactyly of the 5th finger, Microcephaly, Intrauterine growth re... |
OMIM:608747 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Anxiety, Impulsivity, Abnormal eating behavior |
ORPHA:101039 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short long bone, Disproportionate short-limb short stature, Bowed humerus, Brachydactyly, Trident... |
OMIM:619479 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short stature, Brachydactyly, Short humerus |
ORPHA:508542 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Attention deficit hyperactiv... |
ORPHA:98818 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Micrognathia, Shortening of all distal phalanges of... |
OMIM:619135 |
| Cranioectodermal Dysplasia 1 |
|
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Single transverse palmar crease, ... |
OMIM:218330 |
| Baller-Gerold Syndrome |
|
Forearm undergrowth, Absent thumb, Radial deviation of the hand, Patellar hypoplasia, Limited elb... |
OMIM:218600 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short 4th metacarpal, Camptodactyly, Broad hallux, Limb undergrowth, Limited elbow extension, Gen... |
OMIM:618019 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Microcephaly, Short stature, Postnatal growth retardation |
OMIM:618160 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Disproportionate short-trunk sho... |
OMIM:223800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Micrognathia, Hip dislocation, Phocomelia, Tal... |
OMIM:274000 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
| Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Micrognathia, Elbow flexion contracture, Calcaneal epiphyseal stippling, Clinod... |
OMIM:117650 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicles, Bilateral talipes e... |
OMIM:618022 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of the metacarpals, Postnatal growth... |
OMIM:210720 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior |
ORPHA:382 |
| Trigeminal Neuralgia |
|
Allodynia, Episodic paroxysmal anxiety, Depression |
ORPHA:221091 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Short femur, Microcephaly, Growth delay, Short humerus |
ORPHA:17 |
| Occipital Horn Syndrome |
|
Genu valgum, Coxa valga, Capitate-hamate fusion, Pelvic bone exostoses, Growth delay, Limited elb... |
OMIM:304150 |
| Saul-Wilson Syndrome |
|
Overtubulated long bones, Coxa valga, Short stature, Enlarged epiphyses, Short metacarpal, Microg... |
OMIM:618150 |
| Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Micrognathia, Elbow flexion contracture, Tetraphocomelia... |
OMIM:268300 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Hypoplastic ilia, Short stature, Large hands, Micrognathia, Slender long bone, Clinod... |
OMIM:264090 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Intrauterine growth retardation, Postnatal growth retardation, Microcephaly |
OMIM:615190 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Hypoplastic ilia, Short stature, Hip dysplasia, Rela... |
ORPHA:3455 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Wrist flexion contracture, Micrognathia, Bilateral talipes equin... |
OMIM:609465 |
| Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Capitate-hamate fusion, Short metacarpal, Hypoplasia of the odontoid process, Clinodac... |
OMIM:272460 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
| Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia, Dysphagia |
OMIM:603041 |
| Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
