Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Low-set ears, Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 104 |
|
Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 43 |
|
Hypsarrhythmia, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... |
OMIM:617519 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Abcd Syndrome |
|
Albinism, Aganglionic megacolon, Hearing impairment, White eyelashes, Total intestinal agangliono... |
OMIM:600501 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Macrotia, Optic atrophy, Hyperactivity |
OMIM:300928 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity |
OMIM:239500 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Attention deficit hyperactivity disorder, Dysphagia, Abnorma... |
ORPHA:52368 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Hyperactivity |
OMIM:617169 |
Landau-Kleffner Syndrome |
|
EEG with generalized epileptiform discharges, Hyperactivity, EEG with temporal focal spikes, Atte... |
ORPHA:98818 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Low posterior hairline, Abnormal auditory evoked potentials, Long eyelashes, Optic disc pallor |
OMIM:617523 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... |
ORPHA:206443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, EEG abnormality, Hypopigmentation of hair, Hyperactivity |
ORPHA:411515 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Synophrys, Uplifted earlobe, Hyperactivity, Impulsivity |
OMIM:300143 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Synophrys, Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Hyperactivity, Attention deficit hyperactivity disorder, Abnormality of ... |
OMIM:301013 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hypsarrhythmia, EEG with burst suppression, Hyperactivity |
OMIM:619239 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Dysphagia, Abnormal ... |
ORPHA:99027 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Mogs-Cdg |
|
Long eyelashes, Absent brainstem auditory responses, Alopecia, Fair hair, Hirsutism, Sensorineura... |
ORPHA:79330 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... |
OMIM:609136 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Cerebrotendinous Xanthomatosis |
|
Agitation, Optic neuropathy, Abnormal motor evoked potentials, Attention deficit hyperactivity di... |
ORPHA:909 |
Trisomy 10P |
|
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Dysphagia, Abnorm... |
ORPHA:171929 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hearing impairment, Abnormality of peripheral nerve conducti... |
ORPHA:90321 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... |
OMIM:133540 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity |
ORPHA:401973 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... |
OMIM:216400 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:220386 |