| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked potentials, Facial... |
OMIM:601382 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... |
ORPHA:1215 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Biconcave vertebral bodies, Sensorineural hearing impairment... |
OMIM:619260 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment, Kyphoscoliosis, Spina bifida occulta, Sc... |
OMIM:193700 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Pontine Tegmental Cap Dysplasia |
|
Aspiration, Sensorineural hearing impairment, Hemivertebrae, Facial palsy, Scoliosis |
OMIM:614688 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Reduced re... |
OMIM:618733 |
| Mogs-Cdg |
|
Optic atrophy, Hypoventilation, Sensorineural hearing impairment, Thoracic scoliosis, Absent brai... |
ORPHA:79330 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Hypsarrhythmia, Scoliosis, Aspiration |
ORPHA:2148 |
| Developmental And Epileptic Encephalopathy 38 |
|
Hypsarrhythmia, Aspiration |
OMIM:617020 |
| Rett Syndrome, Congenital Variant |
|
Aspiration, Protruding ear, EEG abnormality, Scoliosis, Kyphosis |
OMIM:613454 |
| Adult Krabbe Disease |
|
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Hypsarrhythmia, Aspiration |
OMIM:610768 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve conductio... |
ORPHA:90321 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten... |
ORPHA:99027 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Aspiration |
OMIM:606070 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Aspiration |
ORPHA:600 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... |
ORPHA:171929 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Hypoventilation, Hyperlordosis, Facial palsy, Scoliosis, Abnormality of visual evoked... |
ORPHA:258 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Horseshoe kidney, Aspiration, Fasting hypoglycemia, Scoliosis, Hypospadias |
ORPHA:96182 |
| Laryngotracheoesophageal Cleft |
|
Aspiration |
ORPHA:2004 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:216400 |
| Opitz Gbbb Syndrome |
|
Low-set ears, Rectourethral fistula, Vesicoureteral reflux, Aspiration, Posteriorly rotated ears,... |
OMIM:300000 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Interictal epileptiform activity, Aspiration, Hearing impairment |
OMIM:618922 |
| Hyperekplexia 1 |
|
Aspiration |
OMIM:149400 |
| Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
| Spinocerebellar Ataxia Type 8 |
|
Urinary incontinence, Aspiration |
ORPHA:98760 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Hearing impairment, Aspiration, Maternal diabetes, Scoliosis |
ORPHA:1199 |
| Developmental And Epileptic Encephalopathy 100 |
|
Thoracolumbar kyphosis, Scoliosis, EEG with photoparoxysmal response, Aspiration |
OMIM:619777 |
| Halperin-Birk Syndrome |
|
Optic atrophy, Aspiration, Hearing impairment |
OMIM:618651 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Kyphosis |
ORPHA:401973 |
| Bilateral Perisylvian Polymicrogyria |
|
EEG with frontal focal spikes, Hearing impairment, Facial diplegia, EEG with polyspike wave compl... |
ORPHA:98889 |
| Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
| Ogden Syndrome |
|
Low-set ears, Recurrent otitis media, Aspiration, Protruding ear, Global glomerulosclerosis, Mate... |
OMIM:300855 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Aspiration |
OMIM:614653 |
| Adnp Syndrome |
|
Low-set ears, Protruding ear, Urinary incontinence, Aspiration, Microtia |
ORPHA:404448 |
| Alternating Hemiplegia Of Childhood |
|
Aspiration, Abnormal autonomic nervous system physiology |
ORPHA:2131 |
| Oculopharyngodistal Myopathy 1 |
|
Facial palsy, Aspiration, Sensorineural hearing impairment |
OMIM:164310 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Unilateral renal agenesis, Recurrent otitis media, Aspiration, Congenital Horner sy... |
OMIM:619503 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Low-set ears, Hearing impairment, Mild hearing impairment, Recurrent otitis media, Anotia, Aspira... |
OMIM:616462 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Conductive hearing impairment, Vesicoureteral reflux, Otitis media, Aspiration, Nep... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Conductive hearing impairment, Vesicoureteral reflux, Otitis media, Aspiration, Nep... |
ORPHA:353277 |
