| Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
| Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 112 |
|
Progressive hearing impairment |
OMIM:618257 |
| Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
| Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
| Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
| Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Hearing impairment |
OMIM:614934 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| 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 |
| Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
| 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 Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
| Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Recessive 84B |
|
Hearing impairment, Vestibular hypofunction |
OMIM:614944 |
| Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Dominant 65 |
|
Progressive hearing impairment, Vestibular dysfunction |
OMIM:616044 |
| Deafness, Autosomal Recessive 25 |
|
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 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hearing impairment |
OMIM:615266 |
| Usher Syndrome, Type Id |
|
Vestibular dysfunction, Hearing impairment |
OMIM:601067 |
| Deafness, Mid-Tone Neural |
|
Progressive hearing impairment, Sensorineural hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Dominant 49 |
|
Progressive hearing impairment, Sensorineural hearing impairment |
OMIM:608372 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment |
OMIM:604185 |
| Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
| Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
| Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
| Deafness, Autosomal Recessive 7 |
|
Vestibular dysfunction, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
| Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
| Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
| Deafness, Autosomal Recessive 94 |
|
Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:618434 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| 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 Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Recessive 12 |
|
Prelingual sensorineural hearing impairment |
OMIM:601386 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 111 |
|
Progressive sensorineural hearing impairment |
OMIM:618145 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| 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 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 40 |
|
Prelingual sensorineural hearing impairment |
OMIM:608264 |
| Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
| Deafness, Autosomal Dominant 4A |
|
Progressive sensorineural hearing impairment |
OMIM:600652 |
| Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
| 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 Recessive 45 |
|
Prelingual sensorineural hearing impairment |
OMIM:612433 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| 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 Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 78 |
|
Profound sensorineural hearing impairment |
OMIM:619081 |
| Deafness, Autosomal Dominant 79 |
|
Progressive sensorineural hearing impairment |
OMIM:619086 |
| 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 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| 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 Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
| Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment |
OMIM:608565 |
| Deafness, Autosomal Recessive 46 |
|
Profound sensorineural hearing impairment |
OMIM:609647 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment |
OMIM:618915 |
| 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 76 |
|
Progressive sensorineural hearing impairment |
OMIM:615540 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Deafness, Autosomal Recessive 15 |
|
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 70 |
|
Progressive sensorineural hearing impairment |
OMIM:616968 |
| 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 Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
| Deafness, Autosomal Recessive 85 |
|
Prelingual sensorineural hearing impairment |
OMIM:613392 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Deafness, Autosomal Recessive 2 |
|
Vestibular dysfunction, Sensorineural hearing impairment, Vertigo |
OMIM:600060 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
| Deafness, X-Linked 6 |
|
Hearing impairment, Cochlear malformation |
OMIM:300914 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss |
OMIM:124900 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Aggressive behavior, Focal impaired awareness seizure, Polymicrogyria, Seizure,... |
OMIM:612691 |
| Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
| Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment |
OMIM:608224 |
| Severe Primary Trimethylaminuria |
|
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression |
ORPHA:468726 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... |
OMIM:613074 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F |
ORPHA:46532 |
| Non-Syndromic Genetic Deafness |
|
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... |
ORPHA:87884 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperactivity |
OMIM:238700 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| 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 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Deafness, Autosomal Dominant 72 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:617606 |
| Sinoatrial Node Dysfunction And Deafness |
|
Hearing impairment |
OMIM:614896 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor |
OMIM:618090 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
| Otosclerosis 7 |
|
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... |
OMIM:611572 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, EEG abnormality, Low-set ears |
ORPHA:436151 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Ataxia, Abnorma... |
ORPHA:320401 |
| Hemoglobin E Disease |
|
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Osteopenia |
OMIM:608747 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormality of somatosensory evoked potentials, Dystonia, Shuffling gait, Focal dystonia, Preling... |
ORPHA:52368 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
High-frequency hearing impairment, Bilateral sensorineural hearing impairment, Tinnitus |
OMIM:605594 |
| Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Progressive hearing impairment, Tinnitus |
OMIM:193005 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity |
OMIM:601382 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Alpha-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... |
ORPHA:846 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Gait d... |
OMIM:125250 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Hepatomegaly, Ataxia, Tremor |
OMIM:615924 |
| Hyperprolinemia, Type I |
|
Hyperactivity, EEG abnormality, Ataxia |
OMIM:239500 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Gai... |
OMIM:601455 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Broad-based gait, Tremor |
OMIM:619470 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Anxiety, Generalized myoclonic... |
ORPHA:101039 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Bart-Pumphrey Syndrome |
|
Hearing impairment |
OMIM:149200 |
| Deafness, Autosomal Recessive 103 |
|
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment |
OMIM:616042 |
| 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 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Tremor, Ataxia, Optic atrophy |
OMIM:300983 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia |
OMIM:613977 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Tremor, Ataxia, Decreased nerve conduction veloci... |
ORPHA:206443 |
| Juvenile Huntington Disease |
|
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-... |
ORPHA:248111 |
| Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... |
ORPHA:232 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
| Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity |
ORPHA:2382 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Hepat... |
ORPHA:848 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... |
OMIM:601596 |
| Childhood Disintegrative Disorder |
|
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... |
ORPHA:168782 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Cln5 Disease |
|
EEG with generalized slow activity, Dysmetria, Hyperactivity, Inability to walk, Ataxia, EEG with... |
ORPHA:228360 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... |
ORPHA:66624 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
| Tibia, Absence Of, With Congenital Deafness |
|
Hearing impairment |
OMIM:275230 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
EEG abnormality, Low-set ears, Hyperactivity, Inability to walk, Tremor |
OMIM:618718 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Shuffling gait, Hyperactivity, Focal EEG discharges with secondary generalization... |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... |
OMIM:301008 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, EEG with generalized epileptiform discharges, Steppage gait, Gait ataxia, Interict... |
ORPHA:98818 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia |
OMIM:609425 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment |
OMIM:617302 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:612716 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy, Macrotia |
OMIM:300928 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... |
ORPHA:1929 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
EEG with focal epileptiform discharges, Dystonia, Hyperactivity, EEG with generalized epileptifor... |
ORPHA:88616 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Spastic gait,... |
ORPHA:99027 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Abnormality of the liver, Osteopenia, Hepatosplenomegaly, Leukocytosis, Cirrhosis... |
ORPHA:231222 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
| Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Sensorineural hearing impairment, Head tremor, Inability to walk, Optic nerve hypopl... |
ORPHA:101085 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Ataxia, Absent brainstem auditory r... |
ORPHA:1215 |
| Myoclonic-Astatic Epilepsy |
|
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... |
ORPHA:1942 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, EEG abnormality, Ataxia, Broad-based gait |
ORPHA:411515 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cognitive impairment, Anxiety, Inappropriate behavior, Short stature, Postnatal growth retardatio... |
ORPHA:309246 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hyp... |
ORPHA:3240 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment |
OMIM:248510 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Dystonia, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
| Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Hyperactivity, Broad-based gait |
ORPHA:457260 |
| Adult Krabbe Disease |
|
EEG abnormality, Ataxia, Prolonged brainstem auditory evoked potentials, Gait disturbance, Broad-... |
ORPHA:206448 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Hyperactivity, Hepatomegaly, Ataxia, Limb dystonia, Gait ataxia, Cirrhosis, Tr... |
ORPHA:363400 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Craniosynostosis, Sensorineur... |
OMIM:201050 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, EEG abnormality, Ataxia |
OMIM:271980 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia |
OMIM:250800 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Optic disc pallor, Optic atrophy |
OMIM:609541 |
| Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Dystonia, Hyperactivity, Splenomegaly, Ataxia, Hepatomegaly, Difficulty walking, Op... |
OMIM:615673 |
| Cockayne Syndrome Type 1 |
|
Ataxia, Hepatomegaly, Anemia, Macrotia, Abnormality of peripheral nerve conduction, Gait disturba... |
ORPHA:90321 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Unsteady gait |
OMIM:617865 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased proportion of CD3-positive T cells, Sensorineural hearing impairment, Autoimmune hemoly... |
ORPHA:760 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... |
ORPHA:231226 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity, EEG with series of focal spikes, EEG with photoparoxysmal res... |
ORPHA:168491 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... |
ORPHA:231214 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Hyperactivity, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, Gai... |
ORPHA:35069 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Cholelithiasis, Osteopenia, Resting tremor, Dysto... |
ORPHA:909 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia |
OMIM:619260 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Difficulty walking, Optic atrophy, Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set, posteriorly rotated ears, Ataxia, Exaggerated startle response |
OMIM:618598 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Hearing impairment |
OMIM:252920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hearing impairment, Hyperactivity, Broad-based gait |
OMIM:300958 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis, Limb dystonia |
ORPHA:621 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Unsteady gait |
OMIM:615516 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged neonatal jaundic... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged neonatal jaundic... |
ORPHA:529808 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Low-set ears |
ORPHA:89844 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Hearing impairment |
OMIM:252900 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hepatosplenomegaly, Portal hypertension, Sensorineural hearing impairment, Aganglionic megacolon,... |
OMIM:609136 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Sensorineural hearing impairment, Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Macrotia, Gait disturbance, Thickened helices |
OMIM:614104 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG abnormality, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Gait imbalance, Bro... |
ORPHA:98794 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Dysdiadochokines... |
OMIM:610217 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:619313 |
| X-Linked Creatine Transporter Deficiency |
|
Dystonia, Hyperactivity, Aganglionic megacolon, Athetosis, Ataxia |
ORPHA:52503 |
| Chromosome 15Q25 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia |
OMIM:614294 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, EEG abnormality, Ataxia |
OMIM:610042 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Hearing impairment |
OMIM:252930 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... |
OMIM:301013 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with generalized slow activity, Interictal epileptiform activity, Hyperactivity, Ataxia, EEG ... |
ORPHA:163681 |
| Cockayne Syndrome A |
|
Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Splenomegaly, Ata... |
OMIM:216400 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Decreased skull ossification, Asplenia |
OMIM:602361 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Lethargy, Limb tremor, Exaggerated st... |
OMIM:608643 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Hepatomegaly, Absent brainstem au... |
ORPHA:79330 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Ost... |
ORPHA:73272 |
| Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Osteoporosis, Ata... |
OMIM:133540 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Hypsarrhythmia, EEG with burst suppression |
OMIM:619239 |
| Angelman Syndrome |
|
EEG abnormality, Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Microcytic anemia, HbH hem... |
ORPHA:98791 |
| Sandhoff Disease |
|
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Ataxia, Exaggerated startle response |
OMIM:268800 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Mirage Syndrome |
|
Hypoplastic spleen, Leukopenia, Radial club hand, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
| Adenylosuccinase Deficiency |
|
Opisthotonus, Low-set ears, Hyperactivity, Inability to walk, Gait ataxia |
OMIM:103050 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy |
ORPHA:530983 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, External ear malformation, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612561 |
| X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Attention deficit hyperactivity disorder, Hyperactivity, Gait dis... |
ORPHA:43 |
| Infantile Krabbe Disease |
|
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... |
ORPHA:206436 |
| Pearson Syndrome |
|
Pancytopenia, Hypoplastic spleen, Exocrine pancreatic insufficiency, Abnormality of the liver, He... |
ORPHA:699 |
| Pediatric-Onset Graves Disease |
|
Craniosynostosis, Hyperactivity, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia in presence of... |
ORPHA:525731 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Blepharospasm, Hyperactivity, Bradykinesia, Akinesia, Ataxia, Acanthocytosis, Gait dist... |
OMIM:234200 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Gait disturbance, Difficulty walking, Hearin... |
ORPHA:139396 |
| Shwachman-Diamond Syndrome 1 |
|
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Irregular ... |
OMIM:260400 |
| Tay-Sachs Disease |
|
Dysmetria, Dystonia, Inability to walk, Laryngeal dystonia, Gait disturbance, Exaggerated startle... |
ORPHA:845 |
| Hyperlysinemia |
|
Dysmetria, Craniosynostosis, Opisthotonus, Hypoplasia of the antihelix, Hyperactivity, EEG with s... |
ORPHA:2203 |
| Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Bone Marrow Failure Syndrome 3 |
|
Pancytopenia, Exocrine pancreatic insufficiency, Cupped ear, Bone marrow hypocellularity, Hyperac... |
OMIM:617052 |
| X-Linked Intellectual Disability, Cabezas Type |
|
EEG abnormality, Hyperactivity, Abnormal earlobe morphology, Broad-based gait, Tremor |
ORPHA:85293 |
| Blackfan-Diamond Anemia |
|
Leukopenia, Low-set ears, Thrombocytosis, Erythroid hypoplasia, Microtia, Acute myeloid leukemia,... |
ORPHA:124 |
| Trisomy 10P |
|
Absent gallbladder, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials... |
ORPHA:171929 |
| Citrullinemia Type Ii |
|
Hepatic steatosis, Hyperactivity, Hepatomegaly, Lethargy, Pancreatitis, Hepatocellular carcinoma,... |
ORPHA:247585 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Hypsarrhythmia |
OMIM:615574 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Microtia, HbH hemoglobin |
OMIM:141750 |
| Lead Poisoning |
|
Cranial hyperostosis, Abnormality of the autonomic nervous system, Imbalanced hemoglobin synthesi... |
ORPHA:330015 |
| Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Craniofacial hyperostosis, Conductive hearing impairment, Sensorineural... |
ORPHA:581 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Low-set ears, Sensorineural hearing impairment, Microtia, HbH hemoglobin, Posteriorly rotated ear... |
OMIM:301040 |
| Argininemia |
|
Spastic gait, Cholestasis, Hyperactivity, Hepatomegaly, Portal fibrosis, Micronodular cirrhosis |
OMIM:207800 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Aganglionic megacolon, Anemia, Abnormal hemoglobin, Optic atrophy |
ORPHA:847 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Low-set ears |
OMIM:601186 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears |
ORPHA:401973 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Choreoacanthocytosis |
|
Resting tremor, Lingual dystonia, Decreased amplitude of sensory action potentials, Hyperactivity... |
ORPHA:2388 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Dystonia, Uni- and bilateral multifocal epileptiform discharges, Hyperactivity, ... |
ORPHA:1934 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Low-set ears, Macrotia, Exaggerated startle response, Hearing impairment |
ORPHA:79255 |
| Legius Syndrome |
|
Dystonia, Hearing impairment, Hyperactivity, Acute monocytic leukemia, Vestibular schwannoma, Att... |
ORPHA:137605 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... |
ORPHA:521426 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Dysmetria, Hand tremor, Low-set ears, Hyperactivity, Ataxia, Unsteady gait, Gait ataxi... |
OMIM:614756 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears, Optic atrophy |
OMIM:617527 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Dystonia, Inability to walk, Osteoporosis, Anemia, Optic disc pallor, Exaggerated sta... |
ORPHA:438213 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of the autonomic nervous system, Hyperactivity, Anemia, Orthostatic hypotension due t... |
ORPHA:642 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response, At... |
OMIM:619522 |
