Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... |
OMIM:239100 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... |
ORPHA:3416 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment |
ORPHA:178377 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... |
ORPHA:2790 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Sensorineural hearing im... |
ORPHA:3152 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia |
OMIM:618406 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Conductive hearing impairment, Calvarial osteosclerosi... |
OMIM:607634 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... |
OMIM:122860 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavic... |
OMIM:144750 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Hearing impairment |
OMIM:167250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture |
OMIM:620366 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... |
ORPHA:210110 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct... |
ORPHA:1522 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Frontal upsweep of hair |
OMIM:300983 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment, Aggressive behavior |
OMIM:248510 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen... |
ORPHA:1782 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosynostosis, Optic atrophy, Ost... |
OMIM:259700 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Limitation of joint mobility, Abnormal vertebral segmentation and... |
ORPHA:90650 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior |
ORPHA:2382 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... |
ORPHA:53 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity, Dysmetria, Gait ataxia |
OMIM:618090 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ... |
OMIM:259710 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... |
ORPHA:628 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Chorea, Dysphagia, Gait... |
ORPHA:500180 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Congenital sensorineural hearing impairment, Increased bone mineral density, Posteriorly rotated ... |
OMIM:617306 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Optic atrophy, Osteopetrosis |
OMIM:615085 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dystonia |
ORPHA:248111 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density |
ORPHA:1237 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Sensorineural hearing... |
OMIM:239000 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Cranial nerve compression, Diaphyseal sclerosis, Cortical thicken... |
OMIM:131300 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Posteriorly rotated ears, Facial palsy, Osteopetrosis, Low-set ea... |
ORPHA:2780 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior |
ORPHA:3077 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Joint stiffness, Aggressive behavior, Dense calvaria, Hearing impairment |
OMIM:252920 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac... |
ORPHA:77259 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... |
OMIM:224300 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620023 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Uplifted earlobe, Joint hypermobility, Impulsivity |
OMIM:300143 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Sensorineural hearing impairment |
OMIM:608747 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... |
OMIM:618476 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... |
OMIM:193700 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Dense calvaria, Hearing impairment, Joint stiffness |
OMIM:252900 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept... |
ORPHA:163681 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression |
OMIM:259730 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Cranial hyperostosis, Optic atro... |
OMIM:259720 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Abnormal earlobe morphology, L... |
ORPHA:35107 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy |
OMIM:616881 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decrease... |
ORPHA:909 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal pinna morphology, Camptodactyly of finger, Tarsal synost... |
ORPHA:90652 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Facial palsy, Macrotia, Cranial hyperostosis, Limitation of joint... |
ORPHA:2658 |
Raine Syndrome |
|
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... |
OMIM:259775 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, Limitation of joi... |
ORPHA:89936 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Sclerosis of skull base, Sclerosis of foot bone |
ORPHA:2905 |
Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Increased bone mineral density, Abnormally os... |
ORPHA:800 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, Dyston... |
OMIM:610217 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal tem... |
ORPHA:449291 |
Kenny-Caffey Syndrome, Type 2 |
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Papilledema, Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Hyperoxaluria, Primary, Type I |
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Pathologic fracture, Increased bone mineral density, Optic atrophy, Optic neuropathy |
OMIM:259900 |
Pycnodysostosis |
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Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Gaucher Disease |
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Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Protru... |
ORPHA:33364 |
Pseudohypoparathyroidism Type 1A |
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Increased bone mineral density, Sensorineural hearing impairment, Reduced bone mineral density, H... |
ORPHA:79443 |
Erdheim-Chester Disease |
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Polydipsia, Osteomyelitis, Increased bone mineral density, Osteolysis |
ORPHA:35687 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Desmosterolosis |
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Posteriorly rotated ears, Generalized osteosclerosis, Cupped ear, Low-set ears, Arthrogryposis mu... |
OMIM:602398 |
12Q14 Microdeletion Syndrome |
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Osteopoikilosis |
ORPHA:94063 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Low-set ears, Posteriorly rotated ears, Patchy osteosclerosis |
OMIM:241410 |
Pseudohypoparathyroidism Type 1C |
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Ectopic ossification, Increased bone mineral density, Polyphagia |
ORPHA:79444 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Synostosis of joints, Low-set ears |
ORPHA:50945 |
Sanjad-Sakati Syndrome |
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Low-set, posteriorly rotated ears, External ear malformation, Patchy osteosclerosis |
ORPHA:2323 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Foot joint contracture, Optic atrophy, Macrotia, Abnormality... |
ORPHA:90321 |
Sclerosteosis 1 |
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Papilledema, Facial palsy, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial h... |
OMIM:269500 |
Gaucher Disease Type 3 |
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Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis |
OMIM:612301 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cleidocranial Dysplasia 1 |
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Increased bone mineral density, Delayed pubic bone ossification, Hearing impairment, Increased su... |
OMIM:119600 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
Cockayne Syndrome A |
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Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... |
OMIM:216400 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Optic disc pallor, Optic atrophy, Recurrent fractures |
ORPHA:416 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Optic nerve c... |
ORPHA:667 |
Williams Syndrome |
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Osteopenia, Joint laxity, Increased bone mineral density, Low-set, posteriorly rotated ears, Join... |
ORPHA:904 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Cranial nerve compression, Optic atrophy, Osteopetrosis, Conductive hearing ... |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Hypsarrhythmia, Sclerosis of skull base, Low-set ears, Thickened... |
OMIM:269150 |