| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... |
ORPHA:320401 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... |
OMIM:125250 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... |
ORPHA:1215 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia, Optic disc pallor |
OMIM:618970 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Cardiomyopathy, Unsteady gait, Hyperglycemia, Type II diabetes ... |
OMIM:520000 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Abn... |
ORPHA:99886 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... |
OMIM:617519 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Interictal epileptiform activity, Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus |
OMIM:618857 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Abnormal cranial ... |
OMIM:601596 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hypsarrhythmia, Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology |
ORPHA:33111 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hearing impairment, Hypoglycemia |
OMIM:618838 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A... |
ORPHA:206448 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural... |
ORPHA:101085 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia |
OMIM:616881 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spastic gait, Orthostatic hypotension, Sensorineural hearing impairment, Dysdiadochokinesis, Abno... |
ORPHA:99027 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb ataxia, Optic atrophy, Truncal ataxia, Cardiomyopathy, Gait disturbance, Gait ataxia, Ataxia... |
OMIM:619259 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... |
OMIM:602450 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Mogs-Cdg |
|
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Absent brainstem auditory response... |
ORPHA:79330 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Difficulty walking, Hepatomegaly, Gait disturbance, Absent brainstem auditory resp... |
ORPHA:90321 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Gait dis... |
ORPHA:909 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Mody |
|
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... |
ORPHA:552 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Lymph ... |
OMIM:613179 |
| Cockayne Syndrome A |
|
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... |
OMIM:216400 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
| Trisomy 10P |
|
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... |
ORPHA:171929 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Cockayne Syndrome B |
|
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... |
OMIM:133540 |
| Mend Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
| Retinitis Pigmentosa |
|
Optic atrophy, Hyperinsulinemia, Sensorineural hearing impairment, Conductive hearing impairment,... |
ORPHA:791 |
| Retinitis Pigmentosa 67 |
|
|
OMIM:615565 |
