Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Anxiety, Depression |
OMIM:614296 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... |
OMIM:601376 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Insulin-Like Growth Factor I Deficiency |
|
Micrognathia, Osteopenia, Radial deviation of finger, Hyperactivity, Clinodactyly |
OMIM:608747 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Eiken Syndrome |
|
Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Metaphyseal irregularity, E... |
ORPHA:79106 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Clinodactyly of the 5th finger, Impulsivity |
ORPHA:100973 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Chromosome 3Q29 Deletion Syndrome |
|
Tapered finger, Long fingers, Aggressive behavior, Hyperactivity, Anxiety, Clinodactyly of the 5t... |
OMIM:609425 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Tapered finger, Impulsivity |
OMIM:616977 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... |
OMIM:601559 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... |
ORPHA:248111 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
2-3 toe syndactyly, Short finger, Self-injurious behavior, Aggressive behavior, Pes planus, Hyper... |
OMIM:619467 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Slc35A2-Cdg |
|
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:356961 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... |
OMIM:600785 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Talipes equinovarus, Small hand, Hyperactivity, Short foot, Hip dislocation |
OMIM:300434 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration |
ORPHA:2382 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowth, Oligodac... |
OMIM:251230 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus |
ORPHA:85288 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... |
OMIM:607143 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Dystonia, Hyperactivity, Ataxia |
OMIM:615924 |
Ck Syndrome |
|
Micrognathia, Aggressive behavior, Abnormal cortical bone morphology, Abnormal digit morphology, ... |
OMIM:300831 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
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 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly |
OMIM:300928 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Cognitive impairment, Attention deficit hyperactivity disorder, Hyperinsulin... |
ORPHA:369873 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Ck Syndrome |
|
Long fingers, Aggressive behavior, Hyperactivity, Irritability, Long toe, Microretrognathia |
ORPHA:251383 |
Mental Retardation, Autosomal Recessive 61 |
|
Talipes equinovarus, Tapered finger, Aggressive behavior, Hyperactivity, Pes cavus |
OMIM:617773 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Aggressive behavior, Limb ... |
OMIM:616809 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Clinodactyly, Sandal gap |
OMIM:617752 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Gand Syndrome |
|
Hyperactivity, Long fingers, Long toe, Inappropriate laughter |
OMIM:615074 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Self-mutilation, Sandal gap, Hyperactivity, Unsteady gait |
OMIM:615516 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... |
OMIM:609945 |
Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... |
ORPHA:1106 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
Femoral-Facial Syndrome |
|
Micrognathia, Maternal diabetes, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fi... |
ORPHA:1988 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:411515 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly |
OMIM:258865 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Pes planus, Hyperactivity, Progressive cerebellar a... |
ORPHA:485350 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Short metatarsal, Aggressive behavior, Hyperactivity, Short metacarpal, ... |
OMIM:600430 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... |
OMIM:600081 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Short metatarsal, Hyperactivity, Short metacarpal, Diabetes mellitus, Shor... |
OMIM:614613 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Abnormal foot morphology, Happy demeanor, Hyperactivity, Broad-based gait, Unsteady gait |
OMIM:617865 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... |
OMIM:264700 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... |
OMIM:268305 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Hyperactivity, A... |
ORPHA:363400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Small hand, Pes planus, Sandal gap, Hyperactivity, Pes cavus, S... |
OMIM:300354 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Postaxial polydactyly |
OMIM:615824 |
Vitamin D-Dependent Rickets, Type 2A |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... |
OMIM:277440 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Sandal gap, Hyperactivity, Ataxia, Hip dy... |
ORPHA:228402 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... |
ORPHA:96369 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Iliac crest serration, Abnor... |
ORPHA:239 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior, Prominent fingertip pads |
OMIM:300558 |
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 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Broad hallux |
OMIM:617126 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Anxiety, Attention deficit hyperactivity disorder, Craniosynostosis, Spastic ataxia |
OMIM:618906 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Hyperactivity, Syndactyly, Broad hallux, Broad thumb |
OMIM:613684 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Inappropriate sexual behav... |
ORPHA:43 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tapered finger, Small hand, Pes planus, Sandal gap, Hyperactivity, Short foot, Clinodactyly |
OMIM:618089 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Pes planus, Hyperactivity, Irritability, Diabetes m... |
ORPHA:449291 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hallux valgus, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Hyperactivity,... |
ORPHA:485405 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ... |
OMIM:617925 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Hallux valgus, Micrognathia, Happy demeanor, Inappropriate laughter, Hyperactiv... |
OMIM:614104 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Sagittal craniosynostosis, Clinodactyly, Brachydactyly |
OMIM:618027 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... |
ORPHA:96334 |
Omodysplasia 1 |
|
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... |
OMIM:258315 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Hypoglycemia, Insulin resistance, Osteoporosis, Hyperactivity, Clinodactyly of the ... |
ORPHA:73272 |
Cri-Du-Chat Syndrome |
|
Metatarsus adductus, Short metatarsal, Aggressive behavior, Conspicuously happy disposition, Self... |
OMIM:123450 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... |
OMIM:119800 |
19P13.3 Microduplication Syndrome |
|
Micrognathia, Self-injurious behavior, Long fingers, Osteoporosis, Hyperactivity, Hip subluxation... |
ORPHA:447980 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing, Increased bone mineral... |
OMIM:166740 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Long fingers, Hyperactivity, Overlapping fingers, Microretrognat... |
OMIM:300960 |
Chromosome 10Q26 Deletion Syndrome |
|
Toe syndactyly, Micrognathia, Aggressive behavior, Craniosynostosis, Radial deviation of finger, ... |
OMIM:609625 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Self-biting, Aggressive behavior, Hyperactivity, Clinoda... |
ORPHA:3306 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Cognitive impairment, Craniosynostosis, Hyperactivity, Ataxia, Depressio... |
OMIM:601853 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... |
ORPHA:168491 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... |
OMIM:227270 |
Infantile Neuroaxonal Dystrophy |
|
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Psychomotor d... |
ORPHA:35069 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... |
ORPHA:2751 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Rickets, Delayed epip... |
ORPHA:289157 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... |
OMIM:300554 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Preaxial polydactyly, Hyperactivity, Ataxia, ... |
ORPHA:163681 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Syndactyly, Unsteady gait, Attention deficit hyperactivity disorder, Abnor... |
ORPHA:1942 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Talipes calcaneovalgus, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emo... |
OMIM:610217 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, 2-3 toe syndactyly |
ORPHA:391307 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... |
OMIM:263520 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
Occipital Horn Syndrome |
|
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Osteomalacia, Humerus varus, Osteoporosis, ... |
ORPHA:198 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration, Dense calvaria |
OMIM:252920 |
Smith-Magenis Syndrome |
|
Self-mutilation, Pes planus, Hyperactivity, Short palm, Head-banging, Brachydactyly |
OMIM:182290 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Abnormal foot morphology, Tapered finger, Aggressive behavior, Hyperactivity, Ataxia, Anxiety, Cl... |
OMIM:618430 |
Eiken Syndrome |
|
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Contractures involving the joints of the feet, Micr... |
ORPHA:166108 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Micrognathia, Long fingers, Self-mutilation, Broad distal phalanx of finger, Inappropriate laught... |
ORPHA:363686 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Aggressive behavior, Small hand, Sandal gap, Hyperactivity, Down-sloping shoulder... |
ORPHA:85293 |
Dent Disease 1 |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... |
OMIM:300009 |
13Q12.3 Microdeletion Syndrome |
|
Self-mutilation, Hyperactivity, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb |
ORPHA:412035 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... |
OMIM:103050 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... |
OMIM:304120 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Glass Syndrome |
|
Micrognathia, Happy demeanor, Talipes equinovarus, Aggressive behavior, Arachnodactyly, Hyperacti... |
OMIM:612313 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration |
OMIM:610042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Talipes equinovarus, Large hands, Aggressive behavior, Talipes calcaneovarus, Shuff... |
OMIM:300534 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Seckel Syndrome 1 |
|
Micrognathia, Talipes, Ivory epiphyses, Pes planus, Dislocated radial head, Hypoplasia of proxima... |
OMIM:210600 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga |
OMIM:164900 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Micrognathia, Aggressive behavior, Arachnodactyly, Hyperactivity, Emotional lability, Low frustra... |
OMIM:309520 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Long fingers |
OMIM:614294 |
19P13.12 Microdeletion Syndrome |
|
Self-injurious behavior, Craniosynostosis, Finger syndactyly, Sandal gap, Hyperactivity, Toe clin... |
ORPHA:254346 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Gait imbalance, Limitation of movement at ankles, Inappropriate laughter, Ataxia,... |
ORPHA:98794 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormal foot morphology, Aggressive behavior, Hyperactivity, Ataxia, Syndactyly, Camptodactyly, ... |
ORPHA:369891 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... |
OMIM:114290 |
Fragile X Syndrome |
|
Hyperactivity, Pes planus |
OMIM:300624 |
Fibrochondrogenesis 1 |
|
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... |
OMIM:228520 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... |
ORPHA:958 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Absent thumb |
OMIM:619239 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Micrognathia, Hip dysplasia, Ataxia |
ORPHA:530983 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Ankle clonus, Mental deter... |
ORPHA:139396 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Campomelic Dysplasia |
|
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... |
ORPHA:140 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... |
ORPHA:1788 |
Intellectual Disability-Strabismus Syndrome |
|
Gait disturbance, Micrognathia, Talipes equinovarus, Rocker bottom foot, Congenital finger flexio... |
ORPHA:363528 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Inappropriate crying, Self-injurious behavior, Acromesomelia, Short proximal phalanx of the 5th f... |
ORPHA:261323 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Brachymesomelia-Renal Syndrome |
|
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius |
OMIM:113470 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Motor deterioration, Dense calvaria |
OMIM:252930 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Pes valgus, Inappropriate laughter,... |
ORPHA:72 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Talipes equinovarus, Tapered finger, Aggressive behavior, Hyperactivity, Short thum... |
OMIM:619148 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Finger clinodactyly, Impulsivity |
ORPHA:8 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dementia, Dystonia, Abnormal foot morphology, Bradykinesia, Depression, Hyperac... |
OMIM:234200 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Gait disturbance, Pes planus, Neonatal hypoglycemia |
ORPHA:457485 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... |
OMIM:200980 |
Phocomelia, Schinzel Type |
|
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... |
ORPHA:2879 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Avascular necrosis of the ca... |
ORPHA:581 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Dense calvaria |
OMIM:252900 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hyperactivity, Craniosynostosis, Irritability |
ORPHA:525731 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Aggressive behavior, Rhizomelia, Hyperactivity, Aplasia/Hypoplasia of the ribs, L... |
ORPHA:319182 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Clinodactyly of the 5th finger, Anxiety,... |
OMIM:300912 |
Citrullinemia Type Ii |
|
Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy |
ORPHA:247585 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Aplasia/hypopl... |
OMIM:276820 |
Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... |
OMIM:236680 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... |
OMIM:601027 |
Schneckenbecken Dysplasia |
|
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... |
ORPHA:3144 |
Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
16P11.2P12.2 Microdeletion Syndrome |
|
Toe syndactyly, Proximal placement of thumb, Hyperactivity, Camptodactyly of finger, Short palm, ... |
ORPHA:261211 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... |
OMIM:208500 |
Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Micrognathia, Hyperactivity, Short thumb, Absent thumb |
OMIM:617516 |
Joubert Syndrome 1 |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Postaxial foot polydactyly, Postaxia... |
OMIM:213300 |
Distal Monosomy 12Q |
|
2-3 toe syndactyly, Short middle phalanx of finger, Micrognathia, Aplasia/Hypoplasia of the middl... |
ORPHA:96149 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic iliac wing, Small hand, Hyperactivi... |
OMIM:235510 |
Legius Syndrome |
|
Dystonia, Polydactyly, Cognitive impairment, Hyperactivity, Clinodactyly of the 5th finger, Atten... |
ORPHA:137605 |
Acrodysostosis With Multiple Hormone Resistance |
|
Cone-shaped epiphysis, Short metatarsal, Hypoplastic vertebral bodies, Absent/hypoplastic paranas... |
ORPHA:280651 |
Koolen-De Vries Syndrome |
|
Positional foot deformity, Conspicuously happy disposition, Slender finger, Hyperactivity, Hip di... |
OMIM:610443 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Metaphyseal dysplasia, Congenital hip dislocation, Reduced bone mineral density, Hy... |
OMIM:617052 |
Distal Trisomy 17Q |
|
Hallux valgus, Micrognathia, Rhizomelia, Arachnodactyly, Genu valgum, Hyperactivity, Pes cavus, H... |
ORPHA:3379 |
7Q11.23 Microduplication Syndrome |
|
Micrognathia, Self-injurious behavior, Dysmetria, Aggressive behavior, Long fingers, Craniosynost... |
ORPHA:96121 |
Smith-Lemli-Opitz Syndrome |
|
Metatarsus adductus, Micrognathia, Talipes calcaneovalgus, 2-3 toe syndactyly, Epiphyseal stippli... |
OMIM:270400 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Pes cavus |
OMIM:609727 |
Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Osteop... |
OMIM:218330 |
Mend Syndrome |
|
2-3 toe syndactyly, Micrognathia, Long fingers, Aggressive behavior, Hyperactivity, Overlapping f... |
ORPHA:401973 |
Argininemia |
|
Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Gait disturbance, Hallux valgus, Structural foot deformity, Polydactyly, Arachnod... |
ORPHA:464306 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Micrognathia, Self-injurious behavior, Long fingers, Congenital hip dislocation, Dislocated radia... |
OMIM:619512 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Witteveen-Kolk Syndrome |
|
Toe syndactyly, Aggressive behavior, Conspicuously happy disposition, Proximal placement of thumb... |
OMIM:613406 |
Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Sclerosis of skul... |
OMIM:300373 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Short finger, Self-injurious behavior, Broad finger, Broad phalanx of the toes, Hyperac... |
ORPHA:1934 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dystonia, Violent behavior, Talipes equinovarus, Torticollis, Suicidal ideation, Cognitive impair... |
OMIM:619475 |
Mucopolysaccharidosis Type 2 |
|
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Abnormal epiphys... |
ORPHA:580 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... |
OMIM:211910 |
Charge Syndrome |
|
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Self-mutilation, Absent radius, Down-s... |
OMIM:214800 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Orofaciodigital Syndrome Type 4 |
|
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... |
ORPHA:2753 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Syndactyly, Broad hallux, Panic attack, Abnormal fear/anxiety-related be... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Syndactyly, Broad hallux, Panic attack, Abnormal fear/anxiety-related be... |
ORPHA:353277 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... |
ORPHA:805 |
Non-Specific Syndromic Intellectual Disability |
|
Micrognathia, Broad thumb, Impaired tandem gait, Clinodactyly of hallux, Down-sloping shoulders, ... |
ORPHA:528084 |
Maternal Phenylketonuria |
|
Micrognathia, Bifid distal phalanx of the thumb, Hyperactivity, Clinodactyly, Brachydactyly |
ORPHA:2209 |
Kinsship Syndrome |
|
Micrognathia, Polydactyly, Fibular hypoplasia, Pes planus, Dislocated radial head, Osteopenia, Hi... |
OMIM:619297 |
Rubinstein-Taybi Syndrome 1 |
|
Radial deviation of thumb terminal phalanx, Pes planus, Syndactyly, Broad hallux, Prominent finge... |
OMIM:180849 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Abnormality of lower limb joint, Hyperactivity, Abnormality of the ankles, Impul... |
ORPHA:642 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Tapered finger, Craniosynostosis, Small hand, Hyperactivity, Short foot, Brachydact... |
OMIM:309590 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Postaxial polydactyly, Hyperactivity, Hip dysplasia, Broad hallux, Clinodactyly of the 5th finger |
ORPHA:457284 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Micrognathia, Talipes calcaneovalgus, Paroxysmal bursts of laughter, Talipes equinovarus, Tapered... |
OMIM:309580 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
Tetrasomy 9P |
|
Micrognathia, Inappropriate behavior, Talipes equinovarus, Hypoplastic scapulae, Small toe, Missi... |
ORPHA:3310 |
8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Talipes, Long fingers, Pes valgus, Pes planus, Congenital hip dislocation, Sh... |
ORPHA:508488 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Large hands, Clinodactyly of the 5th finger |
ORPHA:48652 |