Buschke-Ollendorff Syndrome |
|
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis |
ORPHA:1879 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Hyperostosis Corticalis Generalisata |
|
Sensorineural hearing impairment, Generalized osteosclerosis, Facial palsy, Abnormal cortical bon... |
ORPHA:3416 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Osteopenia, Decreased body weight, Hyperactivity |
OMIM:608747 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Increased bone mine... |
OMIM:241520 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Optic atrophy from cranial nerve ... |
OMIM:239100 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis, Facial palsy, Optic atrophy, Hearing impairment |
ORPHA:178377 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Clavicular sclerosis, Generalized osteosclerosis, Facial palsy,... |
ORPHA:2790 |
Melorheostosis |
|
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Atypical scarring ... |
ORPHA:2485 |
Sclerosteosis |
|
Sensorineural hearing impairment, Increased bone mineral density, Optic atrophy, Facial palsy, Ab... |
ORPHA:3152 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosi... |
OMIM:607634 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofaci... |
OMIM:122860 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity |
OMIM:616311 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Cranial nerve compression, Osteosclerosis... |
ORPHA:210110 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity |
ORPHA:356996 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Facial... |
OMIM:166600 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphysea... |
OMIM:144750 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials |
ORPHA:99852 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
8p23.1 deletion syndrome |
|
Hyperactivity, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defe... |
DECIPHER:39 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Osteopetrosis, Optic atrophy, Facial palsy |
OMIM:615085 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... |
OMIM:616648 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Spl... |
OMIM:259700 |
Osteogenesis Imperfecta, Type Xiii |
|
Protruding ear, Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical he... |
OMIM:614856 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Cardiomyopathy, Dilated, 1I |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Recurrent fractures, Coarse metaphyseal trabecularization, Inc... |
ORPHA:1782 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... |
OMIM:617519 |
Schnitzler Syndrome |
|
Arthritis, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:37748 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Failure to thrive, Recurrent fractures, Increased bone mineral ... |
OMIM:239000 |
Craniometaphyseal Dysplasia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Osteopetrosis, Abnormal cranial ... |
ORPHA:1522 |
Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Mandibular osteomyelitis, Hypocalcemia, Osteomyelitis, Facial palsy, Osteoar... |
ORPHA:53 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Optic atrophy... |
OMIM:611490 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Hearing impairment, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Hypsarrhythmia |
OMIM:619970 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, EEG abnormality, Hyperactivity |
OMIM:239500 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... |
ORPHA:90650 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Diastrophic Dysplasia |
|
Large earlobe, Joint stiffness, Increased bone mineral density, Overfolded helix, Camptodactyly o... |
ORPHA:628 |
Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Cranial nerve... |
OMIM:259710 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Flexion contractu... |
ORPHA:77297 |
Camurati-Engelmann Disease |
|
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... |
OMIM:131300 |
Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Asymmetric septal hyp... |
OMIM:252920 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... |
ORPHA:94089 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hepatomegaly, Hyperactivity, Inguinal hernia, Splenomegaly, Dense calvaria, Umbi... |
OMIM:252900 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Joint contracture of the hand, Inguinal hernia, Small for gestational age, ... |
ORPHA:352490 |
Spondyloepiphyseal Dysplasia Tarda |
|
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... |
ORPHA:93284 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Abcd Syndrome |
|
Large for gestational age, Abnormal auditory evoked potentials, Total intestinal aganglionosis, H... |
OMIM:600501 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Conductive hearing impairment, Aortic valve stenosis, Increased bone mineral density, Coarse meta... |
ORPHA:2780 |
Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Hip contracture, Flexion contracture of finger, Recurrent fractures, Joint con... |
OMIM:193700 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Atrial septal defect, Hyperactivity, Pulmonic stenosis, EEG with burst suppres... |
OMIM:619239 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... |
ORPHA:36913 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Pathologi... |
ORPHA:77259 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing impairment,... |
ORPHA:73272 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Sensorineural hearing impairment, Rickets of the lower limbs, Hypophosphatemic rickets, Pseudo-fr... |
ORPHA:289176 |
Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity |
ORPHA:2382 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... |
OMIM:201050 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Increased bone mineral density, Splenomegaly, Ost... |
OMIM:259720 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Papilledema, Lipodystrophy, Visceromegaly, Weigh... |
ORPHA:2905 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Tricho-Dento-Osseous Syndrome |
|
Enamel hypomineralization, Dental enamel pits, Increased bone mineral density |
ORPHA:3352 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Pycnodysostosis |
|
Increased bone mineral density, Mild conductive hearing impairment, Coronal craniosynostosis, Hep... |
ORPHA:763 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Low-set, posteriorly rotated ears |
ORPHA:1237 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... |
ORPHA:98818 |
Werner Syndrome |
|
Slender build, Joint stiffness, Lipoatrophy, Increased bone mineral density, Chondrocalcinosis, O... |
ORPHA:902 |
Dysosteosclerosis |
|
Sclerosis of skull base, Osteopenia, Facial paralysis, Clavicular sclerosis, Optic atrophy, Scler... |
OMIM:224300 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Abnormal pinna morphology, Failure to thrive, Carpal synostos... |
ORPHA:90652 |
Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Hernia, Asymmetric se... |
OMIM:252930 |
Gaucher Disease |
|
Joint stiffness, Aortic valve calcification, Osteomyelitis, Elevated circulating C-reactive prote... |
ORPHA:355 |
Desmosterolosis |
|
Large earlobe, Failure to thrive, Anomalous pulmonary venous return, Increased bone mineral densi... |
ORPHA:35107 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Small for gestational age, Papilledema, Hyperphosph... |
OMIM:127000 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:612840 |
X-Linked Hypophosphatemia |
|
Sensorineural hearing impairment, Hypophosphatemia, Cellulitis, Reduced bone mineral density, Cra... |
ORPHA:89936 |
Desmosterolosis |
|
Failure to thrive, Joint contracture of the hand, Cupped ear, Generalized osteosclerosis, Total a... |
OMIM:602398 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Increased bone mineral density, Splenomegaly, Mitral va... |
ORPHA:77261 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... |
ORPHA:206443 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529799 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... |
ORPHA:800 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Posteriorly rotated ears |
OMIM:617306 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Hepatosplenomegaly, Optic nerve compression, Cranial hyperos... |
OMIM:259730 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... |
OMIM:301013 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Hepatomegaly, Hyperactivity, ... |
OMIM:615673 |
Trichothiodystrophy |
|
Multiple joint contractures, Protruding ear, Increased bone mineral density, Craniosynostosis, Os... |
ORPHA:33364 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, H... |
OMIM:241410 |
Raine Syndrome |
|
Abnormal pinna morphology, Hypophosphatemia, Protruding ear, Increased bone mineral density, Mixe... |
OMIM:259775 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Hypocalcemia, Increased bone mineral density, Reduced bone mine... |
ORPHA:79443 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hypocalcemia, Osteopetrosis |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Elbow ankylosis, Osteopetrosis, Joint hyperflexi... |
ORPHA:2658 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... |
ORPHA:1798 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... |
ORPHA:85451 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Scarring, Increased blood urea nitrogen, ... |
ORPHA:90321 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... |
OMIM:133540 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Enamel hypoplasia, Hypocalcem... |
ORPHA:79444 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Op... |
OMIM:612301 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... |
ORPHA:3240 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Erdheim-Chester Disease |
|
Osteomyelitis, Increased bone mineral density, Abnormal pericardium morphology, Abnormal aortic v... |
ORPHA:35687 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... |
ORPHA:909 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, External ear malformation, Low-set, posteriorly rotated ears... |
ORPHA:2323 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... |
OMIM:216400 |
Mend Syndrome |
|
Failure to thrive, Aortic valve stenosis, Hyperactivity, Elevated 8(9)-cholestenol, Abnormal audi... |
ORPHA:401973 |
Hyperoxaluria, Primary, Type I |
|
Optic neuropathy, Increased bone mineral density, Pathologic fracture, Optic atrophy, Hyperoxaluria |
OMIM:259900 |
Atypical Werner Syndrome |
|
Failure to thrive, Aortic valve calcification, Decreased body weight, Aortic valve stenosis, Incr... |
ORPHA:79474 |
Trisomy 10P |
|
EEG with focal spikes, Flexion contracture of thumb, Small for gestational age, EEG with burst su... |
ORPHA:171929 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatomegaly, Atrial septa... |
ORPHA:79330 |
12Q14 Microdeletion Syndrome |
|
Failure to thrive, Osteopoikilosis |
ORPHA:94063 |
Primary Hyperoxaluria |
|
Failure to thrive, Recurrent fractures, Optic atrophy, Optic disc pallor, Generalized osteosclero... |
ORPHA:416 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Flexion contractu... |
ORPHA:99027 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Hiatus hernia, Hyperactivity |
OMIM:609727 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... |
ORPHA:101085 |
Infantile Krabbe Disease |
|
Failure to thrive, Decreased nerve conduction velocity, Cachexia, Optic atrophy, Hearing impairme... |
ORPHA:206436 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Recurrent fractures, Hypophosphatemia, Hepatomegaly, Hypocal... |
ORPHA:667 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Hepatomegaly, Hyperactivity, EEG with generalized epileptiform discharges,... |
ORPHA:163681 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Osteopenia, Radioulnar synostosis, Ventricular septal defect,... |
ORPHA:904 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Hyperactivity, Reduced bone mineral density, Cupped ear, Enamel hypoplasia, He... |
OMIM:617052 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Cachexia, Joint hyperflexibility, Abnormal circulating creatine concentration, Aga... |
ORPHA:52503 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hyperactivity, Hypoproteinemia, Decreased HDL... |
ORPHA:247585 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Osteopetrosis With Renal Tubular Acidosis |
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Conductive hearing impairment, Failure to thrive, Hypocalcemia, Hepatomegaly, Cranial nerve compr... |
ORPHA:2785 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypomagnesemia, Hypokalemia, Hyperactivity |
OMIM:618314 |
Cleidocranial Dysplasia 1 |
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Increased bone mineral density, Enamel hypoplasia, Increased susceptibility to fractures, Hearing... |
OMIM:119600 |
Sclerosteosis 1 |
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Cortically dense long tubular bones, Papilledema, Facial palsy, Optic atrophy, Facial palsy secon... |
OMIM:269500 |
Blomstrand Lethal Chondrodysplasia |
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Low-set ears, Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Mucopolysaccharidosis Type 2 |
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Abnormal mitral valve morphology, Hepatomegaly, Optic atrophy, Umbilical hernia, Abnormal heart m... |
ORPHA:580 |
Chromosome 15Q25 Deletion Syndrome |
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Abnormal cardiac septum morphology, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hern... |
OMIM:614294 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Failure to thrive, Atrial septal defect, Myelofibrosis, Inguinal hernia, Hyperactivity, Pulmonic ... |
OMIM:607721 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Corneal scarring, Osteomyelitis, Hyperactivity, Abnormal autonomic nervous system physiology, Pos... |
OMIM:256800 |
Legius Syndrome |
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Hyperactivity, Pulmonic stenosis, Vestibular schwannoma, Multiple lipomas, Mitral valve prolapse,... |
ORPHA:137605 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Omphaloc... |
OMIM:306955 |
Schinzel-Giedion Midface Retraction Syndrome |
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Failure to thrive, Sclerosis of skull base, Atrial septal defect, Thickened cortex of long bones,... |
OMIM:269150 |
Histidinemia |
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Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Small for gestational age |
OMIM:609152 |