| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
| Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
| Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
| Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Auditory Neuropathy, Autosomal Dominant 3 |
|
Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
| Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
| Deafness, Autosomal Recessive 25 |
|
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
| Usher Syndrome, Type Id |
|
Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
| Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
| Auditory Neuropathy, Autosomal Dominant 2 |
|
Abnormal speech discrimination, Sensorineural hearing impairment |
OMIM:620384 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment |
OMIM:604185 |
| Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Abnormal vestibular function, Hearing impairment |
OMIM:614934 |
| Deafness, Autosomal Recessive 31 |
|
Absent vestibular function, Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Recessive 117 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Recessive 113 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Dominant 40 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 66 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Recessive 99 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Dominant 53 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Dominant 25 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 89 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
| Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
| Deafness, Autosomal Recessive 94 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618434 |
| Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
| Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 40 |
|
Prelingual sensorineural hearing impairment |
OMIM:608264 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 4A |
|
Progressive sensorineural hearing impairment |
OMIM:600652 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Recessive 71 |
|
Prelingual sensorineural hearing impairment |
OMIM:612789 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Dominant 5 |
|
Progressive sensorineural hearing impairment |
OMIM:600994 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Recessive 62 |
|
Prelingual sensorineural hearing impairment |
OMIM:610143 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
| Deafness, Autosomal Recessive 44 |
|
Prelingual sensorineural hearing impairment |
OMIM:610154 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Recessive 38 |
|
Prelingual sensorineural hearing impairment |
OMIM:608219 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
| Deafness, Autosomal Recessive 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Autosomal Recessive 76 |
|
Progressive sensorineural hearing impairment |
OMIM:615540 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Recessive 111 |
|
Progressive sensorineural hearing impairment |
OMIM:618145 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Recessive 85 |
|
Prelingual sensorineural hearing impairment |
OMIM:613392 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Deafness, Autosomal Recessive 3 |
|
Profound sensorineural hearing impairment |
OMIM:600316 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
| Deafness, Autosomal Recessive 55 |
|
Abnormal vestibular function, Hearing impairment |
OMIM:609952 |
| Deafness, Autosomal Recessive 47 |
|
Abnormal vestibular function, Hearing impairment |
OMIM:609946 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Focal impaired awareness seizure, Polymicrogyria, Bilateral tonic-clonic seizur... |
OMIM:612691 |
| Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... |
OMIM:613074 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
| Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Deafness, Autosomal Recessive 77 |
|
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Ventriculomegaly, Generalized non-motor (absence) seizure, Focal-o... |
OMIM:300088 |
| Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Deafness, Autosomal Dominant 72 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:617606 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Deafness, Autosomal Dominant 82 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:619804 |
| Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Inability to walk, Tremor, Hypsarrhythmia, Hyperactivity, A... |
ORPHA:599373 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... |
ORPHA:208441 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Deafness, Autosomal Dominant 41 |
|
Tinnitus, Progressive sensorineural hearing impairment |
OMIM:608224 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
| Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,... |
ORPHA:52368 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Ataxia, Impulsivity |
OMIM:617113 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
| Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
| 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 |
| Vestibulocochlear Dysfunction, Progressive |
|
Tinnitus, Vestibular areflexia, Progressive hearing impairment |
OMIM:193005 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... |
ORPHA:100973 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Low-set ears, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hype... |
OMIM:618718 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology |
OMIM:300983 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Hepatomegaly, Dystonia |
OMIM:615924 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Difficulty w... |
ORPHA:206443 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... |
OMIM:301008 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment |
OMIM:616042 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Seizure, Obesity, Irritability, Aggressive behavior, Hyperactivit... |
ORPHA:3077 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... |
ORPHA:98818 |
| Lennox-Gastaut Syndrome |
|
Falls, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with focal sharp slow waves |
ORPHA:2382 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Vestibular areflexia, Sensorineural hearing impairment |
OMIM:609006 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, EEG abnormality, Hyperactivity, Dystonia, Dy... |
ORPHA:500180 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:382 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... |
OMIM:609425 |
| Glycine Encephalopathy 1 |
|
Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Juvenile Huntington Disease |
|
Broad-based gait, Gait ataxia, Dystonia, Hyperactivity, Ataxia, Bradykinesia, Progressive cerebel... |
ORPHA:248111 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... |
ORPHA:848 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ag... |
OMIM:619827 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... |
OMIM:617302 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den... |
OMIM:616943 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... |
OMIM:600501 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Polyphagia, EEG abnormality, Hyperactivity, Ataxia |
ORPHA:411515 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Low-set ears, Broad-based gait, Cupped ear, Persistence of hemoglobin F,... |
OMIM:617101 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... |
ORPHA:1215 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Re... |
ORPHA:101085 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosen... |
ORPHA:99027 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Postnatal growth retardation, Co... |
ORPHA:309246 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... |
OMIM:300946 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia |
OMIM:271980 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Continuous spike and waves during slow sleep, Inability to walk, Increased theta fr... |
ORPHA:1929 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait |
OMIM:615516 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Low-set ears, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsi... |
OMIM:620445 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosple... |
ORPHA:231222 |
| Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic an... |
ORPHA:3240 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Abnormal amplitude of flash visual evoked potentials, EEG with spike-w... |
ORPHA:168491 |
| Myoclonic-Astatic Epilepsy |
|
Ataxia, EEG with irregular generalized spike and wave complexes, EEG with polyspike wave complexe... |
ORPHA:1942 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Broad-based gait, Hyperactivity, Hearing impairment |
ORPHA:457260 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis, Limb dystonia |
ORPHA:621 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Falls, Exaggerated startle response |
ORPHA:3198 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Dystonia, Unsteady gait, Gait disturba... |
ORPHA:35069 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal temper tantrums, EEG with generalized epileptiform discharges, Self-mutilation, ... |
ORPHA:163681 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG with abnormally slow frequencies, Broad-based gait, Inappropriate laughter, Abnormal eating b... |
ORPHA:98794 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Osteopenia, Abnormal motor ev... |
ORPHA:909 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
| Hyperlysinemia, Type I |
|
Anemia, Dysdiadochokinesis, Hyperactivity, Optic nerve hypoplasia |
OMIM:238700 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E... |
ORPHA:206448 |
| Developmental And Epileptic Encephalopathy 103 |
|
Continuous spike and waves during slow sleep, EEG with burst suppression, EEG with polyspike wave... |
OMIM:619913 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Ataxia, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Dysphagia, Hypoplastic spleen |
ORPHA:89844 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... |
ORPHA:90321 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor |
OMIM:250800 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Hearing impairment, Exaggerated startle response |
OMIM:620114 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, At... |
OMIM:610042 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Tongue thrusting, Limb tremor, Tortico... |
OMIM:608643 |
| Mucopolysaccharidosis, Type Iiib |
|
Hearing impairment, Splenomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Dense calvaria |
OMIM:252920 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation |
OMIM:618056 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Hyperactivity, Bradykinesia, D... |
OMIM:610217 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment, Hyperactivity... |
ORPHA:760 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set ears, Posteriorly rotated ears, Exaggerated startle response, Ataxia |
OMIM:618598 |
| Adenylosuccinase Deficiency |
|
Low-set ears, Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Aggressive... |
OMIM:103050 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segmen... |
OMIM:609136 |
| Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... |
ORPHA:529799 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Optic atrophy, Blepharospasm, Akinesia, Acanthocytosis, Obsessive-compulsive trait, ... |
OMIM:234200 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, EEG with generalized slow activity, Exaggerated startle response, Macrotia, Op... |
OMIM:617864 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Aganglionic megacolon, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:52503 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
EEG with burst suppression, Agitation, Lethargy, Hypsarrhythmia, Hyperactivity, Thrombocytopenia,... |
OMIM:620423 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Hearing impairme... |
OMIM:617052 |
| X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Disinhibition, Aggressive behavior, Attention deficit hyperactivi... |
ORPHA:43 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... |
ORPHA:79330 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... |
OMIM:216400 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Decreased skull ossification |
OMIM:602361 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... |
OMIM:133540 |
| Choreoacanthocytosis |
|
Resting tremor, Acanthocytosis, Limb dystonia, Hair-pulling, Loss of ambulation, Lingual dystonia... |
ORPHA:2388 |
| Sandhoff Disease |
|
Ataxia, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatomegaly |
OMIM:268800 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Alkalosis, Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity |
OMIM:219090 |
| Tay-Sachs Disease |
|
Optic atrophy, Hearing impairment, Laryngeal dystonia, Inability to walk, Dysmetria, Tremor, Gait... |
ORPHA:845 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Ataxia, Broad-based gait, Exaggerated startle response, Dystonia, Abnormal pinna morphology |
ORPHA:438216 |
| Mirage Syndrome |
|
Radial club hand, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen |
OMIM:617053 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly, Hyperactivity, Anorexia, Spas... |
OMIM:207800 |
| Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hem... |
ORPHA:98791 |
| Pearson Syndrome |
|
Ataxia, Bone marrow hypocellularity, Hearing impairment, Exocrine pancreatic insufficiency, Pancy... |
ORPHA:699 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Anorexia, Abnormality of the autonomic ner... |
ORPHA:330015 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, EEG abnormality, Hyperactivity, Exaggerated startle response, Macrotia |
OMIM:617281 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Difficulty walking, Gait ataxia, Ataxia, Exaggerated startle response |
OMIM:620451 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... |
ORPHA:171929 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Irregular ossificat... |
OMIM:260400 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Choreoathetosis |
OMIM:612716 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... |
ORPHA:124 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormal hemoglobin, Sensorineural hearing impairment, Ag... |
ORPHA:847 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... |
ORPHA:521426 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Mend Syndrome |
|
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity |
ORPHA:401973 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, HbH hemoglobin, Sensorineural hearing impairment, Posteriorly rotated ears, Hypochr... |
OMIM:301040 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Hepatosplenomegaly, Exaggerated startle response, Macrotia |
ORPHA:79255 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Asparagine Synthetase Deficiency |
|
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... |
OMIM:615574 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Microphthalmia, Syndromic 9 |
|
Low-set ears, Multilobulated spleen, Hypoplastic spleen |
OMIM:601186 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears |
OMIM:617527 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Broad-based gait, Inability to walk, Stereotypical hand wringing, Osteoporosis, Exagg... |
ORPHA:438213 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Seizure, Obesity, Emo... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Seizure, Postnatal gr... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Seizure, Postnatal gr... |
ORPHA:353277 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Alkaptonuria |
|
Methemoglobinemia, Reduced bone mineral density, Hemolytic anemia, Black pigment gallstones |
ORPHA:56 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated ... |
OMIM:619522 |
