| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Scoliosis, Facial palsy, Abnormal auditory evoked pote... |
OMIM:601382 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensori... |
OMIM:601455 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Glucose intolerance, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Scolios... |
OMIM:619260 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Simple ear, Decreased nerve conduction velocity, ... |
OMIM:618733 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Arthrogryposis, Distal, Type 2A |
|
Kyphoscoliosis, Abnormal auditory evoked potentials, Scoliosis, Spina bifida occulta, Hearing imp... |
OMIM:193700 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Sensorineural hearing impairment, Hemivertebrae, Scoliosis, Aspiration |
OMIM:614688 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Thoracic scoliosis, A... |
ORPHA:79330 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... |
ORPHA:101085 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia |
ORPHA:3240 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Decreased nerve conduction velocity |
OMIM:606070 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
| Developmental And Epileptic Encephalopathy 38 |
|
Aspiration, Hypsarrhythmia |
OMIM:617020 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Scoliosis, Hypsarrhythmia |
ORPHA:2148 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Protruding ear, EEG abnormality, Scoliosis, Aspiration |
OMIM:613454 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Hypoketotic hypoglycemia, Hypsarrhythmia |
OMIM:610768 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Decreased nerve conduction velocity |
ORPHA:600 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Scoliosis, ... |
ORPHA:90321 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Facial palsy, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hyper... |
ORPHA:258 |
| Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Posteriorly rotated ears, Aganglion... |
OMIM:209880 |
| Esophageal Atresia |
|
Respiratory distress, Maternal diabetes, Episodic respiratory distress, Chronic pulmonary obstruc... |
ORPHA:1199 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress, Hearing impairment, Interictal epileptiform activity |
OMIM:618922 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Insulin resistance, Horseshoe kidney, Scoliosis, Fasting hypoglycemia, Aspiration |
ORPHA:96182 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory evoked poten... |
ORPHA:909 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Posteriorly rotated ears, Rectourethral fistula, Congenital posterior urethral valve... |
OMIM:300000 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... |
OMIM:164310 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:216400 |
| Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
| Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... |
ORPHA:98889 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Stridor, Low-set ears, Aspiration |
OMIM:614653 |
| Spinocerebellar Ataxia Type 8 |
|
Aspiration, Urinary incontinence |
ORPHA:98760 |
| Developmental And Epileptic Encephalopathy 100 |
|
Thoracolumbar kyphosis, Aspiration, EEG with photoparoxysmal response, Scoliosis |
OMIM:619777 |
| Halperin-Birk Syndrome |
|
Aspiration, Optic atrophy, Hearing impairment |
OMIM:618651 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Kyphosis, Low-set ears |
ORPHA:401973 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, EEG abnormality, Abnormal autonomic nervous system physiology, Aspir... |
ORPHA:2131 |
| Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Apnea, Maternal diabetes, Protruding ear, Pulmonary arterial hypertens... |
OMIM:300855 |
| Adnp Syndrome |
|
Respiratory distress, Urinary incontinence, Protruding ear, Microtia, Low-set ears, Aspiration |
ORPHA:404448 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Neonatal respiratory distress, Apnea, Thoracolumbar scoliosis, Unilat... |
OMIM:619503 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hypospadias, Pneumonia, Conductive hearing impairment, Asthma, Sensorineural hearing impairment, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hypospadias, Pneumonia, Conductive hearing impairment, Asthma, Sensorineural hearing impairment, ... |
ORPHA:353277 |
