| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| 7Q31 Microdeletion Syndrome |
|
Torticollis, Hyperactivity, Postnatal growth retardation, Hypoplasia of the cochlea, Delayed skel... |
ORPHA:251061 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Accelerated skeletal maturation, Tremor, Aggressive behavior, Limb dystoni... |
OMIM:620270 |
| Distal Deletion 10Q |
|
Prominent metopic ridge, Lumbar hyperlordosis, Ataxia, Short stature, Craniosynostosis, Aggressiv... |
ORPHA:96148 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p... |
OMIM:113650 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Fragile X Syndrome |
|
Joint laxity, Abnormal head movements, Hyperactivity, Self-biting, Scoliosis, Recurrent hand flap... |
OMIM:300624 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Apert Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, Abnormal semicircular canal morphology, Cervical... |
ORPHA:87 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... |
OMIM:609425 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Low-set ears |
ORPHA:436151 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain,... |
ORPHA:73 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Anteverted ears, Macrotia, Abn... |
OMIM:615541 |
| Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Short stature, Kyphosis, Abnormal repetitive mannerisms, Repetitive compulsive beh... |
ORPHA:352490 |
| Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
| Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Dystonia, Neonatal death, Intrauterine growth retar... |
OMIM:618237 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal cranial nerve morphology, Abnormal... |
ORPHA:2345 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... |
OMIM:618709 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Thoracic kyphosis, Lo... |
OMIM:619092 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Death in childhood, Growth de... |
OMIM:619422 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Crouzon Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Multiple suture craniosynostosis, Condu... |
ORPHA:207 |
| Christianson Syndrome |
|
Death in early adulthood, Truncal ataxia, Dysphagia, Gait ataxia, Joint hyperflexibility, Inappro... |
ORPHA:85278 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... |
ORPHA:251282 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... |
ORPHA:95433 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Growth delay, Self-injurious behavior, Scoliosis, Low-set ears, Int... |
ORPHA:238750 |
| 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 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Short stature, Birth length less than 3rd perce... |
OMIM:614104 |
| Charge Syndrome |
|
Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Abnormality of bone min... |
ORPHA:138 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of finger, Short stature, Short... |
ORPHA:915 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Aplasia of the semicircular canal, Delayed skel... |
ORPHA:648 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Hydrocephalus, Optic atrophy, Elbow flexion contractu... |
OMIM:619470 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Short neck, Delayed skeleta... |
ORPHA:2332 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Ogden Syndrome |
|
Abnormal head movements, Torticollis, Postnatal growth retardation, Scoliosis, Low-set ears, Macr... |
ORPHA:276432 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608636 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Fused cervical vertebrae... |
OMIM:214300 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Aggressive behavior, Tremor, Sensorineural hearing impairment, Prot... |
OMIM:618342 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
| Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... |
ORPHA:3456 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... |
OMIM:178110 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Short stature, Kyphosis, Scoliosis, Low-set ears, Umbilical hernia, Arthrogryposis... |
OMIM:615834 |
| Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Short stature, Craniosynostosis, Hyperlordosis, Prominent crus o... |
ORPHA:794 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosis, Low-set ears, Recurren... |
OMIM:620021 |
| Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis,... |
OMIM:300831 |
| Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Stiff neck, Somatic sensory dysfunction, Dysesthesia, My... |
ORPHA:268882 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive ... |
OMIM:617862 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Impaired pain sensation, Abnormality of the outer ear, Self hugging... |
OMIM:182290 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Distal Renal Tubular Acidosis |
|
Short stature, Osteomalacia, Sensorineural hearing impairment, Bone pain, Rickets, Reduced bone m... |
ORPHA:18 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Ataxia, Short stature, Limb ataxia, Self-injurious behavior, Attention deficit hyperactivity diso... |
OMIM:617695 |
| Ck Syndrome |
|
Hyperactivity, Lumbar hyperlordosis, Posteriorly rotated ears, Kyphoscoliosis, Aggressive behavio... |
ORPHA:251383 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Scoliosis, Recurrent... |
OMIM:617751 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Short stature, Cong... |
OMIM:157800 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Posteriorly rotated ears, Short stature, Kyphoscoliosis, Tics, Low-set ears, Atten... |
OMIM:617808 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Posteriorly rotated ears, Short stature, Abnormality of the midd... |
OMIM:130720 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Protruding ear, Reduced bone mineral density, Abnormal bone ossification, Small earlo... |
ORPHA:93315 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Scoliosis, Macrotia, Abnormal ... |
ORPHA:391307 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:2916 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... |
ORPHA:313892 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment |
OMIM:619877 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab... |
ORPHA:990 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... |
OMIM:277300 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
| Xq28 (MECP2) duplication |
|
Gait ataxia, Death in childhood, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Hemivertebrae, Protruding ear, Grow... |
ORPHA:85284 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor... |
ORPHA:1435 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Hydrocephalus, Agitation, Macrotia |
OMIM:300558 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Short stature, Impulsivity, Aggressive behavior, Chorea, Hip dislocation, Athetosis, Scol... |
OMIM:619435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Hyperactivity, Abnormal pinna morphology, Short stature, Aggressive behavior, Tremo... |
OMIM:300354 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repetiti... |
OMIM:619150 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
| Baker-Gordon Syndrome |
|
Joint laxity, Ataxia, Choreoathetosis, Self-injurious behavior, Scoliosis, Dystonia, Abnormal rep... |
OMIM:618218 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Ataxia, Kyphoscoliosis, Short neck, Tremor, Flexion contracture, Br... |
OMIM:300055 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Low-set ears, Cervical C... |
OMIM:616549 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Arthrogryposis multiplex congenita, Self-injurious behavior, Abnormal repetitive mannerisms, Intr... |
OMIM:615282 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Posteriorly rotated ears, Accelerated skeletal maturation, Aggressive beha... |
OMIM:618430 |
| 48,Xxyy Syndrome |
|
Ataxia, Tremor, Elbow dislocation, Joint hyperflexibility, Radioulnar synostosis, Scoliosis, Atte... |
ORPHA:10 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Joint laxity, Abnormal repetitive mannerisms |
OMIM:606053 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Joint laxity, Hyperactivity, Aggressive behavior, Scoliosis, Hearing impairment |
ORPHA:457260 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Flexion contracture... |
OMIM:617301 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Hearing impairment, Elbow dislocation, Limitation of joint mobili... |
ORPHA:90650 |
| Foxg1 Syndrome |
|
Short stature, Kyphoscoliosis, Bruxism, Choreoathetosis, Severe postnatal growth retardation, Sco... |
ORPHA:561854 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint ... |
OMIM:617333 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Gait ataxia, Prominent antihelix, Dystonia, Abnormal repetitive mannerisms |
OMIM:617807 |
| Duane Retraction Syndrome |
|
Short neck, External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Ab... |
ORPHA:233 |
| Alazami Syndrome |
|
Abnormal eating behavior, Postnatal growth retardation, Scoliosis, Low-set ears, Abnormal repetit... |
ORPHA:319671 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Short... |
OMIM:617302 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Short neck, Aggressive behavior, Opti... |
OMIM:123450 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Scoliosis, Conductive hea... |
OMIM:118100 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Tremor, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abno... |
ORPHA:500159 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Kyphosis, Dysphagia, Self-injurious behavior, Sc... |
OMIM:617061 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Intrauterine growth retardation, Hearing impai... |
ORPHA:369939 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Sacral dimple, Hyperactivity, Miscarriage, Short stature, Aggressive behavior, ... |
OMIM:619695 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Asymmetry of the ears, Sensorineural hearing impairment, Pic... |
OMIM:617796 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Chorea, Bruxism, Self-injurious behavior, Dystonia, Macrotia, Abnormal repet... |
OMIM:618004 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Scoliosis, Abnormal repetitive mannerism... |
OMIM:610883 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Low-set ears |
ORPHA:2522 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements |
ORPHA:240103 |
| Snijders Blok-Campeau Syndrome |
|
Joint laxity, Scoliosis, Low-set ears, Attention deficit hyperactivity disorder, Umbilical hernia... |
OMIM:618205 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Short stature, Anterior concavity of thoracic vertebrae, Cupped ear, Limb ataxia, Self-injurious ... |
OMIM:617101 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
| Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300495 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Bruxism, Dysphagia, Ankle clonus, Agitation, Scoliosis, Dystonia, Abnormal repe... |
OMIM:617435 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Growth delay,... |
ORPHA:3306 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
| Tick-Borne Encephalitis |
|
Back pain, Somatic sensory dysfunction, Stiff neck, Facial palsy, Anorexia, Tremor, Vertigo, Abno... |
ORPHA:297 |
| Huntington Disease-Like 1 |
|
Abnormal head movements, Jerky head movements, Restlessness, EEG abnormality |
ORPHA:157941 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Short stature, Short neck, Aggressive beha... |
ORPHA:369891 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Sagittal craniosynostosis, Short... |
OMIM:618027 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Short stature, Sensorineural hearing impairment, Spinal dysraphism, Incomp... |
OMIM:617660 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Short stature, Aggressive behavior, Sensorineural hearing impa... |
OMIM:600430 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Hyperactivity, Short stature, Impulsivi... |
OMIM:610443 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hyperactivity, Aggressive behavior, Self-injurious behavior, Scoliosis, Abnormal te... |
ORPHA:449291 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Kyphosis, Hip dislocation, Protruding ear, Joint hyperflexibilit... |
ORPHA:96169 |
| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Short stature, Optic nerve hypoplasia, Short neck... |
OMIM:615583 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Short stature, Optic nerve hypoplasia, Chorea, Joint contracture, M... |
OMIM:617864 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation, Short stature, Truncal ataxia |
OMIM:614063 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia, Posteriorly rotated ears, Ankle clonus, Low-set ears |
OMIM:618598 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myelomeningocele, Frequent temper... |
OMIM:620141 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Short stature, Optic nerve hypoplasia, Repetitive compulsive behavior, Delayed skeletal maturatio... |
ORPHA:401777 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Hyperactivity, Foot joint contracture, Limited elbow flexion/extension, Protruding... |
ORPHA:166108 |
| 22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Growth delay, Compulsive behaviors, Scoliosis, Attention deficit hyp... |
ORPHA:1727 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Prominent metopic ridge, Kyphosis, Protruding ear, Growth delay, Abnormal antihelix morphology, S... |
ORPHA:261144 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysphagia, Large earlobe, Low-set ears, Scolios... |
OMIM:619312 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Umbilical hernia, Abnormal repetitive manneri... |
OMIM:616579 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Mild postnatal growth retardation, Optic atrophy, Fused cervical vertebrae... |
ORPHA:530983 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Kyphoscoliosis, Impaired pain sensation, Camptodactyly, Chronic oti... |
ORPHA:412035 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Um... |
OMIM:616977 |
| Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Postnatal growth retar... |
OMIM:214800 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Joint hypermobility, Uplifted earlobe |
OMIM:300143 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short stature, Cervical kyphosis, Tracheomalacia, Elbow dislocati... |
OMIM:150250 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Postnatal growth retardation, Congenital sensorineural hearing impa... |
ORPHA:73272 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Joint contracture of the 4... |
OMIM:618914 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Joint stiffness, Abnormality of cartilage of external ear, Bruxism, Hand tremor, L... |
ORPHA:324313 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Choreoathetos... |
ORPHA:261197 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dense... |
OMIM:252900 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Self-injurious behavior, Scoliosis, Compulsive behavi... |
OMIM:613174 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Spastic ataxia, Torticollis, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoli... |
ORPHA:300570 |
| 19P13.3 Microduplication Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Kyphoscoliosis, Osteoporosis, Hip dislocation, Growth de... |
ORPHA:447980 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Scoliosis, Dystonia, Abno... |
OMIM:613454 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreoathetosis, Gait a... |
OMIM:619580 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Fused cervical vertebrae, Attention deficit hyperactivity disorder, Low-set ears, ... |
OMIM:619227 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Bilateral conductive hearing impairment, Interictal epileptiform activity, Low-set ears, Dysphagi... |
OMIM:617802 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Joint contracture, Abnormal repetitive mannerisms, Scoliosis |
OMIM:617393 |
| Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microti... |
ORPHA:2306 |
| Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Finger joint hypermobility, Attenti... |
OMIM:301069 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Posteriorly rotated ears, Delayed skeletal maturation, Flexion contracture, Low-set... |
OMIM:619293 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short stature, Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Microtia, Radi... |
OMIM:171480 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral b... |
ORPHA:79255 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Posteriorly rotated ear... |
OMIM:213980 |
| White-Sutton Syndrome |
|
Joint laxity, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Sho... |
OMIM:616364 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Increased skull ossification, Optic atrophy, Self-injurious behavior |
OMIM:619690 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Hydrocephalus, Optic atrophy, Macrotia |
OMIM:617281 |
| Shashi-Pena Syndrome |
|
Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cupped ear, Osteoporosis, Lo... |
OMIM:617190 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Genu recurvatum, Short stature, Generalized joint laxity, Dystonia, Acetabular dysplasia, Abnorma... |
ORPHA:280763 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... |
OMIM:184460 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... |
ORPHA:66637 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Short stature, Kyphosis, Sensorineural hearing impairment, Protruding ear, Jo... |
ORPHA:2479 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera... |
ORPHA:391372 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Recurrent otitis media, Moderate hearing impairment, Short stature, Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Abnormal pinna morphology, Tarsal synostosis, Camp... |
ORPHA:90652 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Scoliosis, Hearing impairment |
OMIM:300958 |
| Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Hyperactivity, Aggressive behavior, Gait ataxia, Opisthotonus, Growth de... |
OMIM:103050 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Ataxia, Fractures of the long bones, Optic atrophy, Dysphagia, Growth... |
ORPHA:496641 |
| Smith-Magenis Syndrome |
|
Short stature, Joint stiffness, Impaired pain sensation, Delayed puberty, Abnormal form of the ve... |
ORPHA:819 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Short stature, Aggressive behavior, Underfolded superior helices, Attentio... |
OMIM:300352 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Scoliosis, Dystonia, Abnormal repetitive mannerisms |
OMIM:619317 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Dysphagia, Low-set ears, Brux... |
OMIM:300260 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Kbg Syndrome |
|
Vertebral fusion, Posteriorly rotated ears, Short stature, Short neck, Delayed skeletal maturatio... |
OMIM:148050 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Vertebral segmentation defect |
OMIM:618845 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Intrauterine growth retardation, He... |
OMIM:620327 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Elbow contracture, Short stature, Abnormal repetitive mannerisms, Compulsive behaviors, A... |
OMIM:615656 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Mixed hearing impairment, Block vertebrae, Tarsal synostosis, Short neck, Hyper... |
OMIM:272460 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Joint stiffness, Aggressive behavior, Ovoid thoracolumbar vertebrae, Dense calvari... |
OMIM:252920 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Conductive hearing i... |
OMIM:609053 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Knee fle... |
ORPHA:435638 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Short stature, Camptodactyly of finger, Short neck, Tremor, Kyphosis, Aggressive b... |
ORPHA:85293 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Posteriorly rotated ears, Craniosynostosis, Short stature, Self-injurious ... |
OMIM:601853 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Holoprosencephaly, Scoliosis, Thoracic hemivertebrae |
ORPHA:1445 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Chorea, Flexion contracture, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Craniosynostosis, Short neck, External ear malformation, Kyphosis, Sensorineural h... |
ORPHA:254346 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Kyphosis, Optic atrophy, Contractures of ... |
OMIM:617527 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Craniosynostosis, Attention deficit hyperactivity disorder, Scoliosis, Abnormal r... |
OMIM:618906 |
| Atelosteogenesis, Type I |
|
Encephalocele, Rhizomelia, Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocatio... |
OMIM:108720 |
| Fg Syndrome 3 |
|
Hyperactivity, Death in infancy, Sensorineural hearing impairment, Joint contracture |
OMIM:300406 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Joint hypermobility |
OMIM:620065 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Posteriorly rotated ears, Ataxia, Tremor, Stereotypical hand wringing, Death in adolescence, Agit... |
OMIM:619229 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking... |
OMIM:252930 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Short stature, Short neck, Ag... |
OMIM:212066 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Postnatal growth retardation, Bulimia, Self-biting, S... |
OMIM:300912 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Tracheomalacia, Short neck, Joint hyperflexibility, Compulsive behaviors, Attentio... |
ORPHA:1001 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle fle... |
OMIM:305620 |
| 3Q29 Microdeletion Syndrome |
|
Aggressive behavior, Joint hyperflexibility, Low-set ears, Six lumbar vertebrae, Attention defici... |
ORPHA:65286 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing imp... |
OMIM:608747 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Thickened helices, Darwin tubercle of helix, Joint hypermobility, Six lumbar vertebrae |
OMIM:619122 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... |
OMIM:613686 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Postnatal growth retardation, Cupped ear, Growth delay, Radioulnar sy... |
OMIM:263750 |
| Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Abnormality of the stapes, Wormian bones, Aganglionic megacolon, Kyphosc... |
ORPHA:798 |
| 7Q11.23 Microduplication Syndrome |
|
Short neck, Hemivertebrae, Dysmetria, Abnormal optic disc morphology, Chronic otitis media, Abnor... |
ORPHA:96121 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Abnormal pinna morphology, Camptodactyly of finger, Short stature, Impaired pain s... |
ORPHA:261211 |
| Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Severe short stature, Rhizomelia, Short neck, Hypoplasia of the odontoid process, ... |
ORPHA:239 |
| Seckel Syndrome 1 |
|
Hyperactivity, Abnormal pinna morphology, Proportionate short stature, Postnatal growth retardati... |
OMIM:210600 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Sacral dimple, Abnormal optic disc morphology, Low-set ears, Hearing impairment |
OMIM:617516 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Short neck, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repeti... |
OMIM:615802 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Conductive hearing impairment, Abn... |
ORPHA:580 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Thoracic scoliosis, Pilonidal sinus, Hyperactivity, Short stature, Short neck, Join... |
OMIM:252940 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive... |
OMIM:618917 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Short neck, Hemivertebrae, Cervical C2/C3 ... |
ORPHA:1780 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Keratoconus Posticus Circumscriptus |
|
Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,... |
OMIM:244600 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Hearing impairment, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, ... |
ORPHA:1724 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Dystonia, Abnormal repe... |
OMIM:600795 |
| Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis |
ORPHA:377 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... |
OMIM:122600 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Short stature, Impulsivity, Protruding ear, Growth delay, Microtia, Scoliosis, Att... |
OMIM:301030 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Dysmetria, Dysphagia, Ankle clonus, Dystonia... |
ORPHA:845 |
| White-Sutton Syndrome |
|
Joint laxity, Hyperactivity, Posteriorly rotated ears, Short stature, Short neck, Aggressive beha... |
ORPHA:468678 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Cupped ear, Flat acetabular roof, Fused cervical vertebrae, Low-set ears, Wormian ... |
OMIM:617159 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ataxia, Aggressive behavior, Contracture of the proximal interphalang... |
ORPHA:457279 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Rhizomelia, Accelerated skeletal maturation, Aggress... |
ORPHA:319182 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Blepharospasm, Microtia, Abnormality of the vertebral column, A... |
ORPHA:861 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... |
OMIM:619103 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Optic atrophy, Growth delay, Bilateral sensorineural hear... |
ORPHA:66634 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Sensorineural h... |
OMIM:301040 |
| Phelan-Mcdermid Syndrome |
|
Sacral dimple, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Protruding ear, Br... |
OMIM:606232 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Postnatal growth retardation, Delayed skeletal matur... |
ORPHA:261323 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Mixed hearing impairment, Interphalangeal joint contracture of ... |
ORPHA:1826 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, An... |
OMIM:609541 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Scoliosis, Attention deficit hyperactivity disorder, Obs... |
OMIM:618825 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Intrauterine growth retardation, Ma... |
OMIM:615574 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Prominent metopic ridge, Congenital hip dislocation, Posteriorly rotated ears, Hyperactivity, Aqu... |
OMIM:619512 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Posteriorly rotated ears, Growth delay, Contracture of the proximal interphalan... |
OMIM:615485 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... |
OMIM:616393 |
| Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral density, Otitis ... |
ORPHA:581 |
| Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Prominent metopic ridge, Multiple joint con... |
ORPHA:468631 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Ataxia, Short stature, Hyperlordosis, Aggressive behavior, Self-injurious behavior,... |
OMIM:300986 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Posteriorly rotated ears, Thoracolumbar scoli... |
OMIM:268310 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Short stature, Optic nerve hypoplasia, Postnatal growth re... |
OMIM:206900 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:610253 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavio... |
ORPHA:208447 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Head-banging, Self-injurious beha... |
OMIM:619575 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Self-injurious behavior, Scoliosis, Limb dystonia, Abnormal rep... |
ORPHA:457351 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Short stature, Facial palsy, Spina bifida, Short neck... |
ORPHA:508498 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Abnormal pinna morphology, Short stature, Kyphosis, Sensorineura... |
OMIM:194190 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Delayed skeletal maturation, Scoliosis, Low-set ears, Jerky head mo... |
ORPHA:369837 |
| Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... |
ORPHA:64280 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Delayed skeletal maturation, Growth delay, Intrauterine growth retardation, Abnorm... |
OMIM:618347 |
| Myhre Syndrome |
|
Vertebral fusion, Ataxia, Short stature, Short neck, Joint stiffness, Limitation of joint mobilit... |
OMIM:139210 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Pitt-Hopkins Syndrome |
|
Sacral dimple, Short neck, Cupped ear, Gait ataxia, Self-injurious behavior, Scoliosis, Thickened... |
OMIM:610954 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Short stature, Polyphagia, Growth delay, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa... |
ORPHA:320406 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
| Kleefstra Syndrome |
|
Short stature, Tracheomalacia, Aggressive behavior, Self-mutilation, Limitation of joint mobility... |
ORPHA:261494 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the patella, Sensorineural hearing impai... |
ORPHA:3320 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Aganglionic megacolon, Postnatal growth retardation, Sensorineural hearing impa... |
ORPHA:959 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ataxia, Myelopathy, Dysmetria, Hamstring contractures, Ankle clonus, Dysphagia, He... |
ORPHA:139396 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert... |
ORPHA:1436 |
| 47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Hydrocephalus, Low-set ears, Attention deficit hyperactivity disorder |
ORPHA:8 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Accelerated skeletal maturation, Short neck, Kyphosis, Hydrocephalus, Joint hyperf... |
ORPHA:77301 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Protruding ear, Abnormal curvature of the vertebral column, Tics, Otitis media, Compul... |
OMIM:619475 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Posteriorly rotated ears, Proportionate short stature, Hyperextensible hand joi... |
OMIM:227330 |
| Waardenburg Syndrome, Type 1 |
|
Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
| Autism, Susceptibility To, 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608049 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Dysmetria, Growth delay, Facial diplegia, Scoliosis, Truncal ataxia, Attenti... |
OMIM:619121 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ankle flexion contracture, Kyphosis, Abnormal repetitive mannerisms, Protrudin... |
ORPHA:464311 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae |
OMIM:309620 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Scoliosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
| Kinsship Syndrome |
|
Osteopenia, Death in infancy, Sacral dimple, Short stature, Short neck, Hip dislocation, Bruxism,... |
OMIM:619297 |
| Hallermann-Streiff Syndrome |
|
Hyperactivity, Wormian bones, Spina bifida, Hyperlordosis, Proportionate short stature, Optic dis... |
OMIM:234100 |
| Aicardi Syndrome |
|
Block vertebrae, Optic disc coloboma, Optic atrophy, Protruding ear, Scoliosis, Delayed puberty, ... |
ORPHA:50 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, Ataxia, Hip dislocation, Growth delay, Head tremor, Abnormal repetitive mannerisms |
OMIM:619428 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di... |
ORPHA:168491 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Multiple joint contractures, Short stature, Kyphosis, Abnormal ... |
ORPHA:464306 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Floating-Harbor Syndrome |
|
Restlessness, Enlarged joints, Short stature, Kyphoscoliosis, Short neck, Avascular necrosis of t... |
ORPHA:2044 |
| Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Facial palsy, Sensorineural hearing impairment, Fused cervical vertebrae, ... |
OMIM:607323 |
| Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Joint laxity, Hyperactivity, Severe short stature, Short statu... |
ORPHA:3379 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Short stature, Short neck, Growth delay, Attention defic... |
OMIM:614294 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... |
OMIM:619725 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Ataxia, Short stature, Aggressive behavior, H... |
OMIM:614756 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Ataxia, Aggressive behavior, Optic disc coloboma, Occipital mye... |
OMIM:213300 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set ears, Dysphagia, Abnormal re... |
ORPHA:447997 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, ... |
OMIM:620330 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Vertebral fusion, Death in infancy, Congenital hip dislocation... |
ORPHA:373 |
| Chops Syndrome |
|
Short stature, Tracheomalacia, Optic atrophy, Thickened helices, Cervical C2/C3 vertebral fusion,... |
OMIM:616368 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Decreased cervical spine mobility |
ORPHA:71272 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Hyperlordosis, Aggressive behavior, Abnormal repetitive mannerisms, Hip... |
OMIM:301066 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Legius Syndrome |
|
Hyperactivity, Short stature, Vestibular schwannoma, Scoliosis, Dystonia, Attention deficit hyper... |
ORPHA:137605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Spinal rigidity, Hydrocephalus, Flexion contracture,... |
OMIM:253800 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Short stature, Craniosynostosis, Delayed skeletal matura... |
OMIM:309590 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Abnormal pinna morphology, Elbow contracture, Sensor... |
OMIM:617137 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Hyperactivity, Posteriorly rotated ears, Facial palsy, Short stature, Hyperlordosis... |
OMIM:615873 |
| Apert Syndrome |
|
Limited elbow movement, Hearing impairment, Sagittal craniosynostosis, Craniosynostosis, Delayed ... |
OMIM:101200 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Caudal Regression Syndrome |
|
Impulsivity, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sco... |
ORPHA:3027 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Mixed hearing impairment, Posteriorly rotated ears, Short stature, Kyph... |
ORPHA:97360 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
