Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Deafness, Autosomal Dominant 11 |
|
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
Deafness, Autosomal Recessive 2 |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment |
OMIM:600060 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Deafness, Autosomal Recessive 89 |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:613916 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Deafness, Autosomal Recessive 18B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614945 |
Deafness, Autosomal Recessive 94 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:618434 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O... |
ORPHA:280234 |
Machado-Joseph Disease Type 3 |
|
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... |
ORPHA:276244 |
Usher Syndrome, Type Ic |
|
Congenital sensorineural hearing impairment, Vestibular hypofunction |
OMIM:276904 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Dep... |
OMIM:615157 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atr... |
ORPHA:225154 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Decreased compound muscle action potential amplitude, Babinski sign, Imp... |
OMIM:618279 |
Deafness, Autosomal Recessive 101 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:615837 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Frontotemporal dementia, Babin... |
OMIM:600795 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Euphoria, Axonal loss, Lat... |
OMIM:221770 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... |
ORPHA:206594 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Machado-Joseph Disease Type 1 |
|
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... |
ORPHA:276241 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... |
ORPHA:101097 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia |
ORPHA:211017 |
Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati... |
OMIM:208920 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
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, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
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 Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Neurogenic bladder, Urinary incontinence, ... |
OMIM:263570 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Impaired oropharynge... |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Babinski sig... |
OMIM:619742 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... |
ORPHA:101111 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence, Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, M... |
OMIM:249900 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Impulsivity, Inability ... |
OMIM:617854 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:607706 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... |
OMIM:162500 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Neurogenic bladder, Dy... |
ORPHA:513436 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... |
OMIM:620378 |
Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia |
OMIM:617769 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Onion bul... |
OMIM:214400 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, I... |
OMIM:614436 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... |
OMIM:169500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Bulbar palsy, Proximal m... |
OMIM:615911 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... |
OMIM:615185 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... |
OMIM:607250 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Lower limb spasticity, Agenesis of cerebellar vermis, Unsteady gait, Babinski sign, Sensory ataxi... |
OMIM:620106 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... |
OMIM:606483 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Adult Krabbe Disease |
|
Urinary incontinence, Progressive neurologic deterioration, Hoffmann sign, Upper limb muscle weak... |
ORPHA:206448 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... |
ORPHA:99953 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Foix-Alajouanine Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Lower limb muscle weakness, Distal l... |
ORPHA:79093 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Decreased motor nerve conduction veloc... |
OMIM:604168 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Dementia, Gliosis, Myocl... |
ORPHA:204 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Elevated circulating creatine kinase co... |
OMIM:618387 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Axonal loss, Gliosis, Dysphagia |
OMIM:300857 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Cataract, Premature ovarian insufficiency, Parkinsonism, Di... |
OMIM:609286 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
Camos Syndrome |
|
Renal insufficiency, Ataxia, Spasticity, Nephrotic syndrome, Brain atrophy, Aplasia/Hypoplasia of... |
ORPHA:83472 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
East Syndrome |
|
Cerebellar atrophy, Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability ... |
ORPHA:199343 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Diffuse cerebral atrophy, Recurrent myoglobinuria, Elevated circulating creatine kinase concentra... |
OMIM:607426 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Neurogenic bladder, Hyperactivity, Paralysis, Aggres... |
ORPHA:43 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, D... |
OMIM:614487 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, Fl... |
OMIM:609033 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle ... |
ORPHA:466768 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis, Thro... |
ORPHA:3327 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... |
OMIM:157640 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary u... |
OMIM:611390 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... |
OMIM:607731 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Distal sensory impairm... |
ORPHA:206583 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp... |
ORPHA:320370 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Distal lower limb amyotrop... |
OMIM:609311 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Substantia nigra gliosis, Dystonia, Parkinsonism, Rigidity, Babinski sign, Ab... |
ORPHA:171695 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Decrease... |
OMIM:311070 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ... |
ORPHA:401820 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Vomiting, Loss of ambulation, Ataxia, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:271245 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Ataxia, Short statur... |
OMIM:248800 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Poor head control, Weakness due to upper motor neuron ... |
ORPHA:466722 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... |
OMIM:610100 |
Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M... |
ORPHA:98934 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai... |
ORPHA:251282 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... |
OMIM:613672 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... |
OMIM:607483 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Ataxia, Apraxia |
ORPHA:85338 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... |
ORPHA:90103 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Loss of ambulation, S... |
OMIM:167320 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, High palate, Loss of ambulation, Foot dorsiflexor... |
ORPHA:98897 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial... |
OMIM:611694 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Progressive spasticity, Cerebral hypomyelination, ... |
ORPHA:496641 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Gait disturbance... |
OMIM:615643 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Microcytic anemia, Axonal degeneration, Falls, Tongue fasciculations, Scoliosis, Failure ... |
OMIM:618811 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atr... |
OMIM:500013 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria |
OMIM:222100 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Inabili... |
ORPHA:2596 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Impaired vibratory sensation, A... |
OMIM:617225 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa... |
OMIM:607565 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De... |
OMIM:270550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal sensory impairment, Steppage gait, Dysphagia, Peripheral demyelination, Axonal degeneratio... |
OMIM:607736 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... |
ORPHA:521406 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Restless legs,... |
ORPHA:101085 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Nescav Syndrome |
|
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... |
OMIM:614255 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... |
OMIM:619389 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Generalized-onset seizure, Ataxia, Elevated circulating ... |
OMIM:620166 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis |
ORPHA:2815 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Gliosis, Simultanapraxia, Clumsiness, Se... |
ORPHA:157941 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Somatic sensory dysfu... |
OMIM:600882 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... |
OMIM:618184 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Dysmetria, Enuresis nocturna, Foot dorsiflexor weakness, Ophthalmoplegia, S... |
ORPHA:171629 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Somatic sensory dysfuncti... |
ORPHA:79473 |
Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peri... |
OMIM:616287 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... |
OMIM:604360 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Epileptic spasm, Dystonia, Hypoplasia of the pons, Partial agenesis of the co... |
ORPHA:500144 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... |
ORPHA:99944 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Metachromatic Leukodystrophy |
|
Bulbar palsy, Ataxia, Urinary incontinence, Decreased nerve conduction velocity, Reduced leukocyt... |
OMIM:250100 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ... |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Cognitive impa... |
ORPHA:401901 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Fatt... |
OMIM:620249 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen... |
OMIM:614296 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Neurogenic bladder, Generalized-onset seizure, Inability to walk, Babinski... |
ORPHA:280229 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... |
OMIM:236792 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis |
OMIM:616155 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... |
OMIM:608627 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... |
ORPHA:99948 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Torticollis, Impaired vi... |
OMIM:619686 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokine... |
OMIM:612780 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... |
OMIM:615924 |
Arts Syndrome |
|
Death in infancy, Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord po... |
OMIM:301835 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Steppage gait, Distal sensory impairment |
OMIM:302802 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria... |
ORPHA:313772 |
Spinocerebellar Ataxia 17 |
|
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Park... |
OMIM:607136 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Neurogenic bladder, Epileptic spasm, Dystonia, Hypoplasia of the pons, O... |
OMIM:617669 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... |
OMIM:616795 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ... |
ORPHA:254343 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunct... |
ORPHA:101077 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dyst... |
OMIM:605361 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la... |
OMIM:617087 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... |
OMIM:182815 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... |
OMIM:607791 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... |
OMIM:614322 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Delayed CNS myelination, Multiple joint contractures, Neurogenic bladder, Oro... |
ORPHA:466934 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria... |
OMIM:619780 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Flexion contracture, Lower limb muscle weakness, Recurrent aspiration pneumonia, Abnormal... |
ORPHA:2590 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction ve... |
ORPHA:98755 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... |
OMIM:617916 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Depression, Lo... |
OMIM:618369 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... |
ORPHA:71211 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Delayed CNS myelination, Hyperactivity, Generalized-onset seizure, Ankle flexion contracture, Ina... |
OMIM:616657 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Axonal loss... |
ORPHA:1175 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavi... |
ORPHA:382 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Impaired d... |
OMIM:601455 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Demyelinating sensory neuropathy, Distal muscle weakness, Urinary incontin... |
ORPHA:320365 |
Adrenoleukodystrophy |
|
Bulbar palsy, Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred spee... |
OMIM:300100 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sig... |
OMIM:616680 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Myoclonus, Nephritis, Thrombocytopenia |
OMIM:274240 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... |
ORPHA:329284 |
Cog5-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Neurogenic bladder, Hepatomegaly, Camptodactyl... |
ORPHA:263487 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Oromandibular dystonia, Abnor... |
ORPHA:216873 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Neurogenic bladder, Involuntary movements, Optic nerve hy... |
ORPHA:572013 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Ataxia, Facial palsy, Short stature, Progressive muscle weakness, Optic a... |
ORPHA:772 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment |
OMIM:620009 |
Hemangioblastoma |
|
Cerebellar edema, Neurogenic bladder, Dysesthesia, Spinal hemangioblastoma, Upper limb muscle wea... |
ORPHA:252054 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebellar hyp... |
ORPHA:33445 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Lower limb muscle weakness, Tonic seizure, Focal hemiclonic sei... |
OMIM:616973 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty w... |
OMIM:619425 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated mus... |
OMIM:620285 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Distal ... |
OMIM:613710 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, I... |
OMIM:600363 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Heterochromia iridis, Ataxia, Cerebral dysmyelination, Porta... |
OMIM:609136 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Opti... |
OMIM:222300 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... |
ORPHA:137898 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... |
OMIM:615048 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Unsteady ... |
OMIM:619405 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Abnormal pyramidal sign, Dysmetria, Gait atax... |
ORPHA:98 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Delayed myelination, Chorea, Spastic tetrapl... |
OMIM:613811 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Paralysis, Oral-pharyngeal dysphagia, Cerebral atrophy, Facial diplegia |
OMIM:616286 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio... |
OMIM:620011 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode... |
OMIM:245200 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Ataxia, Confusion, Infantile spasms, Abnormal brainstem MRI signal intensity, Spast... |
ORPHA:263410 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Distal sensory impairment |
OMIM:614369 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... |
OMIM:615376 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Gait ... |
OMIM:210000 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... |
OMIM:608703 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Depression, Lateral ventricle d... |
OMIM:615889 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Calf muscle pseudohypertrophy, Neurogenic bladder, Ataxia, Neck fle... |
ORPHA:96180 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia |
OMIM:264070 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Diaminopentanuria |
|
Ataxia, Cystinuria, Hyperlysinuria, Neurodegeneration, Spasticity |
OMIM:222350 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... |
OMIM:256850 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Teratoma, Pineal |
|
Hemiparesis, Polydipsia, Polyuria |
OMIM:273120 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, D... |
OMIM:618088 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, D... |
OMIM:616756 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Confusion, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis,... |
ORPHA:71277 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Neurofib... |
OMIM:601104 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... |
OMIM:608804 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Diaphragmatic eventration, Distal muscle weakness, Small for gest... |
OMIM:604320 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating... |
OMIM:612319 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Cognitive impairment, Astrocytosis |
OMIM:607341 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Apraxia, Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Depression... |
OMIM:221820 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Dementia, Dystonia, Memory imp... |
OMIM:606438 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Elevated circulating creatine kinase concentration, Increa... |
ORPHA:264580 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neurogenic bladder, Truncal ataxia |
OMIM:613612 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Waddling gait, Lower limb spasticity, Urinary incontinence, D... |
OMIM:607259 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Poster... |
OMIM:609195 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... |
ORPHA:254875 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Abnormal... |
ORPHA:2382 |
Glutathionuria |
|
Eczema, Urinary incontinence, Tremor, Asthma, Gray matter heterotopia, Dysdiadochokinesis, Glutat... |
OMIM:231950 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Truncal titubation, Abnormal cerebellum morphology, Ba... |
OMIM:610532 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Cholecystitis, C... |
OMIM:615512 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Neurogenic bladder, Delayed myelination, Flexion contracture, Optic atrophy, ... |
OMIM:616683 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... |
OMIM:616230 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... |
OMIM:607641 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... |
ORPHA:909 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence, Decreased nerve conduc... |
OMIM:615284 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... |
ORPHA:98759 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1383 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Neurofibrillary tangles, Fron... |
ORPHA:100070 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Aminoacidur... |
ORPHA:213 |
Rabies |
|
Cerebral palsy, Anorexia, Depression, Paresthesia, Attention deficit hyperactivity disorder, Voca... |
ORPHA:770 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Elevated circulating creatine kinase concentration, Hepato... |
ORPHA:79240 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo... |
ORPHA:88628 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1490 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Progressive neurologic deterioration, Flexion contracture, Gastroesophag... |
ORPHA:90324 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus... |
OMIM:256810 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, D... |
OMIM:617862 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Diabetes insipidus, Facial hypotonia, Inability to walk, Astrocytosis, Nephrocalcinosis, Seizure,... |
OMIM:611087 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Depression, Paresthesia, Allodynia, CNS d... |
ORPHA:221091 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Congenital contracture, G... |
ORPHA:191 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... |
ORPHA:254361 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred sp... |
ORPHA:98772 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... |
OMIM:617770 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spina... |
ORPHA:2822 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... |
ORPHA:178400 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... |
ORPHA:66624 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Clonus, Demyelinating motor neuropathy, Ragged-red muscle fibers, Abnorm... |
OMIM:616479 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment |
OMIM:608653 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Neurogenic bladder, Optic atrophy, Ataxia, Spastic tetraplegia |
OMIM:618248 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerosto... |
OMIM:618527 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... |
OMIM:607596 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Kyphosis, Babinski sign,... |
OMIM:614409 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment |
OMIM:268010 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... |
OMIM:618404 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Proteinuria, Stage 5 c... |
OMIM:614455 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... |
OMIM:603516 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Skeletal muscle atrophy, Cataract, Premature ovarian insufficiency, Babins... |
ORPHA:101006 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, A... |
OMIM:618161 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
Joubert Syndrome 4 |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Abnormal renal medulla morphology, Sta... |
OMIM:609583 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... |
ORPHA:309854 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Cataract, Left ventricular hypertro... |
ORPHA:228346 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Gait d... |
ORPHA:391417 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Urinary incontinence, Peroneal muscle atrophy, Thenar muscle atrophy, Then... |
ORPHA:171617 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... |
OMIM:617691 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Iris hy... |
ORPHA:97229 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ... |
OMIM:614229 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Clonus, Clonic seizure, High, narrow palate, Hypertonia, Tics, High palate, Leukod... |
OMIM:619475 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Abnormal pyramidal sign, Upper limb muscle we... |
ORPHA:254930 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... |
OMIM:615491 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... |
ORPHA:306692 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... |
OMIM:616204 |
Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Anorexia |
ORPHA:178029 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Poor coordination, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Impulsivity, Cerebral atrophy, Ir... |
OMIM:614116 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment |
OMIM:613076 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Urocanic aciduria, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... |
OMIM:613647 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... |
ORPHA:453521 |
X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Choreoathetosis, Vesicoureteral reflux, Spasticity, Cerebral cortical atrophy |
ORPHA:85285 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
De Sanctis-Cacchione Syndrome |
|
Ventriculomegaly, Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptor... |
OMIM:278800 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Skeletal muscle atrophy, Streak ovary, Abnormality of... |
ORPHA:168563 |
Spastic Paraparesis And Deafness |
|
Cataract, Short stature, Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... |
OMIM:605253 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... |
ORPHA:98818 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebe... |
OMIM:243910 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Elevated circulating creatine ki... |
ORPHA:98911 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Delayed CNS myelination, Cataract, Poor head control, Infantile spasms, Tonic seizure, Focal-onse... |
OMIM:617393 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Generalized-onset seizure, Facial p... |
OMIM:159950 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia... |
ORPHA:320391 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Titubat... |
ORPHA:98771 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait a... |
OMIM:137440 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Arachnoid Cyst |
|
Facial palsy, Inability to walk, Cranial nerve compression, Paraparesis, Slurred speech, Abnormal... |
ORPHA:2356 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar gliosis, Flexion contracture, Abnormal pyramidal sign, Aspiration pneumonia, Progressi... |
ORPHA:35069 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Gastroesophageal reflu... |
OMIM:619971 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Neurogenic bladder, Hepatomegaly, Elevated circulati... |
OMIM:608779 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... |
ORPHA:79139 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Optic disc pallor, Neurogenic bladder, Leukodystrophy, Dystonia, Joint c... |
OMIM:617762 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... |
OMIM:275900 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Progressive muscl... |
OMIM:600462 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Hoffmann sign, Dysmetria, Diffuse demyelination of the cere... |
ORPHA:139396 |
Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Parkinsonism, Difficulty walking, Compulsive behaviors, Oromandibul... |
ORPHA:397725 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... |
ORPHA:1368 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... |
OMIM:164400 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Osteomyelitis, Neurogenic bladder, Focal tonic seizure, Hypop... |
OMIM:619218 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... |
OMIM:183090 |
Peroxisome Biogenesis Disorder 7B |
|
Sensorineural hearing impairment |
OMIM:614873 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Opisthotonus, Axonal loss, Hypertonia, Gliosis, Neonatal death, Decreas... |
OMIM:252160 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Ataxia, Seizure |
OMIM:613402 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Gastroesophageal reflux, Compulsive behaviors, Hyperactivity, Cryptorchidism, Seizure, Up... |
ORPHA:485350 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Elevated circulating creatine k... |
OMIM:617013 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Senior-Boichis Syndrome |
|
Diffuse cerebral atrophy, Polydipsia, Thickening of the tubular basement membrane, Aggressive beh... |
ORPHA:84081 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Spastic/hyperactive blad... |
ORPHA:411602 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Ataxia, Polyuria, Myoclonus |
OMIM:560000 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Pare... |
OMIM:263800 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Gait atax... |
OMIM:610743 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... |
OMIM:605355 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Gastrointestinal dysmotility, R... |
ORPHA:298 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment |
OMIM:600193 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Opt... |
ORPHA:254886 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Urinary incontinence, Waddling gait, Ataxia, Short stature, Obesity, Seizure, Fasciculations, Bil... |
ORPHA:464282 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Uri... |
ORPHA:157946 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:276902 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Delayed CNS myelination, Dystonia, Involuntary movements, Chorea, Cerebral at... |
OMIM:617493 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... |
ORPHA:478029 |
Hematuria, Benign Familial, 2 |
|
Sensorineural hearing impairment |
OMIM:620320 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:619518 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... |
ORPHA:289560 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Impaired ... |
OMIM:162400 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Urinary incontinence, Chorea, Upper-limb j... |
ORPHA:300605 |
Choreoacanthocytosis |
|
Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Cho... |
ORPHA:2388 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... |
ORPHA:444099 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Respiratory insufficiency due to muscle we... |
ORPHA:98902 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Impaired pain sensation, A... |
ORPHA:139578 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins... |
ORPHA:506353 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Abnormal macrophage morphology, Scapular winging, Calf muscle ps... |
ORPHA:353 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Urinary incontinence, Hypoplasia of the... |
ORPHA:98760 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Delayed CNS myelination, Hyperactivit... |
OMIM:271980 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Facial palsy, Seizu... |
ORPHA:258 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
Desminopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... |
ORPHA:98909 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina... |
OMIM:272200 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Megacystis, Polyuria |
OMIM:304800 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Spastic paraplegia, Nephrolithiasis, Athetosis, Polydipsia |
ORPHA:369929 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... |
OMIM:607694 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proxi... |
ORPHA:98896 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Adrenomyeloneuropathy |
|
Back pain, Female sexual dysfunction, Peripheral axonal degeneration, Cerebral dysmyelination, At... |
ORPHA:139399 |
Developmental And Epileptic Encephalopathy 97 |
|
Poor head control, Ventriculomegaly, Epileptic spasm, Tremor, Inability to walk, Seizure, Stereot... |
OMIM:619561 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... |
ORPHA:803 |
Lowe-Kohn-Cohen Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2408 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... |
ORPHA:182050 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Hypertriglyceridemia, Impaired temperature sensation,... |
OMIM:205400 |
Poliomyelitis |
|
Skeletal muscle atrophy, Anorexia, Upper limb muscle weakness, Paralytic ileus, Fatigable weaknes... |
ORPHA:2912 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... |
ORPHA:542310 |
Multifocal Motor Neuropathy |
|
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... |
ORPHA:641 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Seizure, Recur... |
OMIM:300624 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Elevated circulating creatine kinase con... |
OMIM:609452 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Corneal opacity, Decreased response... |
ORPHA:488632 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Progressive proximal muscle weakness, Functional abnormality of the bl... |
OMIM:300076 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Akinesia, Aggressive behavior,... |
OMIM:607454 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:619024 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Optic atrophy, Cerebral atrop... |
OMIM:610217 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... |
ORPHA:100999 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Clef... |
OMIM:162100 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... |
ORPHA:2585 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Delayed CNS myelination, Hepatomegaly, Elevated circulating aspartate am... |
OMIM:257200 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Orthostatic hypotension, Hypospadias, Neurogenic bladder, Sta... |
OMIM:191800 |
Myopathy With Extrapyramidal Signs |
|
Clonus, Tremor, Gowers sign, Chorea, Choreoathetosis, Cerebellar dysplasia, Hepatomegaly, Hyperac... |
OMIM:615673 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Abnormal renal cort... |
OMIM:616733 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Reduced xanthine dehydrogenase level, Opisthotonus, Axonal loss, Gliosis, Decreased urinary sulfa... |
OMIM:252150 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... |
ORPHA:223 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Generalized-onset seizure, Anorexia, Tremor, Leukopenia, Vomiting, Tongu... |
ORPHA:297 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Ab... |
ORPHA:1532 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Elevated hepatic transaminase, Facial p... |
OMIM:610131 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Progressive neurologic deterioration, Chore... |
ORPHA:506 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Severe demyelination of the white matter, Megaloblastic anemia, Neutropenia, Lethargy, Delirium, ... |
ORPHA:79282 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Incr... |
ORPHA:99330 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Psychomotor deterioration, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Deficit... |
ORPHA:329336 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R... |
OMIM:617284 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Chorea, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Hepatomegaly, Ataxia, Ophthalmoparesis... |
ORPHA:255210 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, C... |
OMIM:617951 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... |
OMIM:619470 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Urinary incontinence, Opisthotonus, Spastic... |
OMIM:205100 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Cerebral dys... |
ORPHA:101070 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Polyuria |
OMIM:613677 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Poor head control, Dystonia, Ataxia, Inability to walk, Optic atrophy, Dysmet... |
OMIM:617954 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, ... |
OMIM:261630 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic a... |
ORPHA:544469 |
Familial Cold Urticaria |
|
Dysesthesia, Polydipsia |
ORPHA:47045 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Tremor, Flexion contracture, Choreoathetosis, High palate, Male hypogonadism, Juvenile cataract, ... |
OMIM:300055 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... |
ORPHA:431329 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia, Tremor |
OMIM:619099 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Seizu... |
OMIM:300983 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Severe temper tantrums, Optic nerve hypoplasia, Ataxia, Dysmetria, Gait ataxi... |
OMIM:614306 |
Farber Disease |
|
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Flexion contracture, He... |
ORPHA:333 |
Acute Disseminated Encephalomyelitis |
|
Abnormal pyramidal sign, Vomiting, Nausea, Ataxia, Confusion, Abnormal brainstem MRI signal inten... |
ORPHA:83597 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... |
OMIM:162000 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... |
OMIM:238970 |
4H Leukodystrophy |
|
Cerebellar atrophy, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone... |
ORPHA:289494 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity... |
ORPHA:845 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Elevated circulating creatine kinase ... |
OMIM:606002 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Ba... |
ORPHA:98761 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Postnatal growth retardation, Cryptorchidism, High, narrow ... |
ORPHA:276432 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Congenital Myopathy 19 |
|
Renal atrophy, Gait disturbance, Hydronephrosis, Dysphagia |
OMIM:618578 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, A... |
OMIM:604317 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Peroneal muscle atrophy, Urinary incon... |
ORPHA:100989 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... |
OMIM:618917 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Leukodystrophy, Hepatomegaly, Portal hypertension, Paraplegia, Hepatosplenomeg... |
ORPHA:79124 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Impaired pain sensation, K... |
OMIM:618124 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Weight loss, Bradykinesia, Ina... |
OMIM:168605 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... |
ORPHA:139480 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Cerebellar atrophy, Increased urine succinate ... |
OMIM:618384 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Seiz... |
ORPHA:452 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, P... |
ORPHA:91131 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Short stature, Absent pubertal growth sp... |
OMIM:615919 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Urinary incontinen... |
OMIM:300623 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
Machado-Joseph Disease |
|
Gliosis, Urinary bladder sphincter dysfunction, Impaired vibratory sensation, Ataxia, Parkinsonis... |
OMIM:109150 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Mental deterioration, M... |
ORPHA:240085 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... |
OMIM:606159 |
Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Abnormal cerebellum morphology, Polydipsia, Hydronephrosis |
ORPHA:35687 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ataxia, Camptodactyly of finger, Optic atrophy, Seizure, Gait disturbance, Sp... |
ORPHA:2710 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination... |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:171612 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... |
ORPHA:309246 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... |
ORPHA:320 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Renal hypoplasia, C... |
ORPHA:85284 |
Hartnup Disorder |
|
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Neutral hyp... |
OMIM:234500 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, CNS demyelination, Failure to t... |
OMIM:618237 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Jeavons Syndrome |
|
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit... |
ORPHA:139431 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Decreased circulating total IgM, Scoliosis, ... |
OMIM:300861 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Mild postnatal growth retardation, Dysmetria, Hypothyr... |
ORPHA:456312 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Decreased motor nerve... |
ORPHA:99949 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive |
ORPHA:796 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia,... |
ORPHA:48431 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Cerebral atrophy, Tetraplegia, Growth delay, Seizure, Uraciluria, H... |
OMIM:274270 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal ... |
ORPHA:453533 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... |
OMIM:612674 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Superficial Siderosis |
|
Impaired temperature sensation, Functional abnormality of the bladder, Abnormal pyramidal sign, D... |
ORPHA:247245 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... |
ORPHA:98907 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior |
ORPHA:208441 |
Saccharopinuria |
|
Citrullinuria, Tremor, Spastic diplegia, Cystinuria, Gait ataxia, Distal sensory impairment, Hype... |
ORPHA:3124 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Flexion contracture, Gastroesophageal reflux, Abnormality of the male genita... |
ORPHA:847 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Cach Syndrome |
|
Progressive neurologic deterioration, Flexion contracture, Dysmetria, Vomiting, Renal hypoplasia,... |
ORPHA:135 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Decreased response to growth hormone stimulation t... |
ORPHA:273 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Bilateral tonic-clonic seiz... |
ORPHA:457240 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... |
ORPHA:600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Ventriculomegaly, Hyperactivity, Hypospadias, Short stature, Aggres... |
OMIM:300354 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Dyspnea, M... |
ORPHA:93552 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Bradykinesia, Dementia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hemiplegia/hemiparesis, Optic atrophy, Abnormal brainstem morphology, Abnormal pyra... |
ORPHA:79279 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Gastroesophageal reflux, Ataxia, Short stature, Seizure, Myoclonus, Brain atrophy, Limb h... |
ORPHA:442835 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P... |
ORPHA:101082 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spastic tetraparesis, Progressi... |
ORPHA:496756 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Mental deterioration, Bradykinesia, Urinary urg... |
OMIM:168601 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, ... |
OMIM:614381 |
Developmental And Epileptic Encephalopathy 109 |
|
Delayed CNS myelination, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemi... |
OMIM:620145 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Decreased serum estradiol, Gas... |
ORPHA:2959 |
Meckel Syndrome 13 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia, Polycystic kidney dysplasia |
OMIM:617562 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante... |
OMIM:611890 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Bowel incontinence, Dysesthesia, Rigidity, Abnormal brainstem morphology, D... |
ORPHA:93256 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a... |
ORPHA:306669 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tre... |
ORPHA:363717 |
Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Small for gestational age, Progressive neurologic deterioration, Parkinsonism, ... |
OMIM:261640 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... |
ORPHA:458803 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Seizure, Status epilepticus, Prolinu... |
OMIM:239500 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Elevated circulating creatine kinase concen... |
ORPHA:64753 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Decreased circulating antibody level, Gait disturbance, Sco... |
ORPHA:85317 |
Deafness-Vitiligo-Achalasia Syndrome |
|
EEG abnormality, Sensorineural hearing impairment |
ORPHA:3239 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1144 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
Mepan Syndrome |
|
Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic ... |
ORPHA:508093 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen... |
ORPHA:445062 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Spastic paraplegia, Focal clonic seizure |
OMIM:617370 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia |
OMIM:605909 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to wal... |
OMIM:618877 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cataract, Chorea, Progressive proximal muscle weakness, Cerebral atrophy, Myopathy, Seizure, Hype... |
ORPHA:369847 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... |
ORPHA:98889 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Short attention span, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic at... |
ORPHA:401866 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia |
OMIM:128235 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Vesicoureteral reflux, Loss of ambulation, Ata... |
ORPHA:3208 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Speech apraxia, Dysuria, Abnormal cerebellum morphology, Babinski s... |
ORPHA:101000 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Generalized-onset seizure, Tremor, Microvesicular hepatic steatosis, Partial agenesis of the corp... |
OMIM:220111 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Tremor, Micropenis, Hepatomegaly, Ataxia, Short stature, Cryptor... |
OMIM:216400 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Urinary incontinence, Dysmetria, Chronic axonal neuropathy, Lower limb m... |
ORPHA:88644 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... |
OMIM:158590 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ... |
ORPHA:98768 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Cataract, Muscle weakness, Hepatosplenomegaly |
OMIM:614885 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Pineal cyst, Cholecystit... |
ORPHA:98908 |
Pontocerebellar Hypoplasia Type 10 |
|
Poor head control, Optic atrophy, Abnormal brainstem morphology, Seizure, Hypertonia, Spasticity |
ORPHA:411493 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Failure to th... |
OMIM:617595 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... |
ORPHA:276198 |
Optic Atrophy 11 |
|
Dysmetria, Mildly elevated creatine kinase, Delayed CNS myelination, Hyperactivity, Ataxia, Short... |
OMIM:617302 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebral cortical atrophy, Cerebellar h... |
OMIM:620327 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Hydronephrosis |
OMIM:617127 |
Griscelli Syndrome, Type 2 |
|
Progressive neurologic deterioration, Hepatosplenomegaly, Seizure, Hemophagocytosis, Spasticity |
OMIM:607624 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... |
ORPHA:3095 |
Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, External genital hypoplasia, Self-mutilation, Unsteady gait, Blue irides, ... |
ORPHA:3041 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Tethered cord, Neurogenic bladder, Dural ectasia, Chiari type I malformati... |
OMIM:130720 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Bulbar palsy, Dy... |
ORPHA:99857 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Urinary incontinence, Bowel incontinence, Babinski sign, Impaired ... |
ORPHA:100993 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... |
ORPHA:216866 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Ataxia, Dysuria, Abnormality of the urinary system, Nephropat... |
ORPHA:3463 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal myelination, A... |
ORPHA:85179 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Tremor, Cryptorchidism, Trun... |
OMIM:300957 |
Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Hemiplegia/hemiparesis, Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Babinski sign, Impaired vibration sens... |
ORPHA:171863 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, S... |
ORPHA:100 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Gait disturbance, Attent... |
OMIM:609757 |
Developmental And Epileptic Encephalopathy 82 |
|
Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia, Cerebral atrophy, Spastic p... |
OMIM:618721 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Abnormal brain... |
ORPHA:300573 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... |
ORPHA:500180 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia,... |
OMIM:168600 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Dementia, Gl... |
ORPHA:683 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... |
OMIM:611721 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, External ophthalmoplegia, Optic atrophy, Cerebral atrophy, Dysphagia, C... |
OMIM:619422 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased mus... |
ORPHA:465508 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Tremor, Microcornea, Hypoplasia of the iris, Death in childhood,... |
OMIM:133540 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Partial agenesis of the corpus callosum, ... |
OMIM:270400 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Severe temper tantrums, Tremor, Dysmetria, Hyp... |
OMIM:617710 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Short stature, Cryptorchidism, Repetiti... |
ORPHA:352490 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Clonus, Hypoplasia of the pons, Abnormal pyramidal sign, Hypoplasia of the brainstem, Agenesis of... |
ORPHA:370959 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Urinary incontinence, Tremor, Abnormal cereb... |
ORPHA:447753 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Optic atrophy... |
OMIM:603896 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... |
ORPHA:1929 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Hand muscle weakness, Proximal muscle weakness, Spinal cord lesion, Urinar... |
ORPHA:320355 |
Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Ma... |
ORPHA:79320 |
Classic Galactosemia |
|
Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism... |
ORPHA:79239 |
Webb-Dattani Syndrome |
|
Delayed CNS myelination, Neurogenic bladder, Bilateral tonic-clonic seizure, Hyposthenuria, Gastr... |
OMIM:615926 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Dystonia, Aganglionic megacolon, Short stature, Aggressive beha... |
OMIM:300352 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Progressive neurologic deterioration, Gait ataxia, Weight loss, Aminoaciduria, Proximal... |
OMIM:612075 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Gliosis, Cer... |
OMIM:277470 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia |
OMIM:618637 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Dystonia, Spastic tetraparesis, Paraparesis... |
OMIM:620358 |
Typhoid |
|
Skin rash, Epistaxis, Ataxia, Tremor, Splenomegaly, Hypertonia, Cough, Infectious encephalitis |
ORPHA:99745 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decre... |
OMIM:607616 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617992 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Delayed myelination, Spastic tetraplegia, Temporal... |
ORPHA:621 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Listeriosis |
|
Respiratory distress, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulom... |
ORPHA:533 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Christianson Syndrome |
|
Cerebellar atrophy, Death in early adulthood, Decreased muscle mass, Dystonia, Generalized-onset ... |
ORPHA:85278 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait, A... |
OMIM:303350 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... |
ORPHA:167 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Macrocytic anemia, Scapular winging, Ataxia, Ophthal... |
ORPHA:98673 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia |
OMIM:239200 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... |
ORPHA:401768 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Hypogonadism, Lethargy, Decreased seru... |
OMIM:201100 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Aganglionic megacolon, Optic nerve hypoplasia, Bilateral tonic-clonic s... |
ORPHA:171680 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Bone-marrow foam cells, Low chole... |
OMIM:257220 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment |
ORPHA:66633 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Splenomegaly, Myocarditis, Dyspnea, Res... |
ORPHA:83317 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizu... |
OMIM:614307 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Sneddon Syndrome |
|
Tremor, Nephropathy, Chorea, Hemiparesis |
ORPHA:820 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Startle-induced seizure, Infantile spasms, Hypoplasia of th... |
ORPHA:467166 |
Alport Syndrome |
|
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... |
ORPHA:63 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liv... |
ORPHA:254892 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hepatic fibrosis, High palate, Micropenis, Ataxia, Nephrogenic diabetes insi... |
OMIM:209900 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Urinary incontine... |
ORPHA:268882 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior be... |
OMIM:230650 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordinati... |
ORPHA:544254 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Sensorineural hearing impairment, Aganglionic megacolon |
ORPHA:2155 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Orthostatic hypotension, Dysesthesia, ... |
ORPHA:139417 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Urinary incontinence, Elevated circulating cre... |
OMIM:617193 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Short stature, Chorea, Ileus, Athetosis, ... |
ORPHA:52503 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Abnormality of extrapyramidal motor... |
OMIM:607822 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Distal sensory impairment, Axonal loss, Steppage gait, Gait disturbance |
OMIM:118300 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Typical absence seizure... |
ORPHA:168491 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Memory ... |
ORPHA:79234 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Th... |
ORPHA:139402 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Clonus, Opisthotonus, Hypertonia, Gliosis, Limb dystonia, Death in childhood, Micropenis, Short s... |
OMIM:619847 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Anemia, Seizure, Conjuncti... |
OMIM:603552 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations |
OMIM:620007 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:619473 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Delayed CNS myelination, Hyperactivity, Short stature, Decreased response to growth hormone stimu... |
OMIM:615286 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Hydronephrosis, Cerebral atrophy |
OMIM:619797 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... |
ORPHA:101076 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr... |
ORPHA:1192 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Vocal cord paralysis, Tongue fasciculations, Bulbar... |
OMIM:211530 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Death in infancy, Ectopic kidney, Cryptorchidism, Seiz... |
OMIM:613730 |
Nipah Virus Disease |
|
Respiratory distress, Tremor, Myoclonus, Cough, Infectious encephalitis |
ORPHA:99825 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Hyperkinetic m... |
OMIM:233910 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... |
OMIM:617404 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture, Agitation, A... |
OMIM:613870 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Myoclonus, Lethargy |
OMIM:605899 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Chilblains, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Throm... |
OMIM:615010 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Hydroureter, Hydronephrosis, Myoclonus |
OMIM:618240 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... |
ORPHA:319199 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Gastroparesis, Impaired distal proprioception, Proximal muscle weak... |
ORPHA:70595 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia |
OMIM:619556 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy |
OMIM:618453 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Angelman Syndrome |
|
Tremor, Gastroesophageal reflux, Iris hypopigmentation, Keratoconus, Hyperactivity, Ataxia, Cereb... |
ORPHA:72 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Bulbar palsy, Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Ca... |
OMIM:313200 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... |
ORPHA:36387 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Splenomegaly, Myocarditis, Hepatitis, End... |
ORPHA:549 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Generalized-onset seizure, Hypergonadotropic hyp... |
OMIM:619737 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High pala... |
ORPHA:363528 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C... |
ORPHA:157846 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... |
OMIM:615290 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic bladder |
OMIM:619173 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, O... |
OMIM:615217 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Cle... |
ORPHA:10 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Short-segment aganglionic megacolon |
OMIM:619465 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363558 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, High pala... |
OMIM:304100 |
Crigler-Najjar Syndrome |
|
Jaundice, Ophthalmoparesis, Memory impairment, Seizure, Abnormality of the liver, Cognitive impai... |
ORPHA:205 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Prominent corneal nerve fibers, Elevated circulating parathyroid hormo... |
ORPHA:653 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ... |
OMIM:254900 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Generalized amyo... |
ORPHA:66634 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dy... |
ORPHA:254881 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Hypospadias, Short stature, Cleft palate, Seizure, Iris col... |
ORPHA:66629 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Whipple Disease |
|
Ataxia, Anorexia, Abnormal pyramidal sign, Myoclonus, Polydipsia |
ORPHA:3452 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Ataxi... |
ORPHA:713 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Age... |
ORPHA:2059 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
Primary Progressive Freezing Gait |
|
Lewy bodies, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuf... |
ORPHA:75567 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis |
OMIM:235900 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Delayed CNS myelination, Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Tonic seizure, Bil... |
OMIM:619428 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Herpes simplex encephalitis, Hemiparesis, Seizure, Gliosis, Mental deterioration, Leth... |
OMIM:613002 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal loss in central... |
OMIM:260565 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Membrano... |
OMIM:619644 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hypoplasia of the brainstem, Abnormal myelination |
ORPHA:352682 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensat... |
OMIM:616586 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Hypothyro... |
ORPHA:663 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Impulsivity, Tremor, Park... |
ORPHA:240071 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Tremor, Gowers sign, Chorea, Achalasia, Hepatic steatosis, Waddling gait, Hepatomegaly, Ataxia, C... |
OMIM:615356 |
Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Eosinophilia, Lower limb muscle weakness, Paraparesis, Lymphadenitis... |
ORPHA:449427 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Ataxia, Tremor, Gait disturbance, Abnormal pattern of respiration |
ORPHA:29822 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ataxia, Paraparesis, Uveitis, Seizure, Tetraparesis, Joint contracture of the... |
OMIM:164200 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... |
OMIM:105210 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... |
OMIM:219800 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Aganglionic megacolon, Supernumerary nipple, Bilateral tonic-clonic seizure, Growth delay... |
ORPHA:247262 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... |
OMIM:300635 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... |
ORPHA:368 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Ataxia, Supernumerary nipple, Aggressive behavior, Postnatal growth retard... |
ORPHA:2896 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria |
ORPHA:251274 |
Sialidosis Type 2 |
|
Ataxia, Tremor, Splenomegaly, Dyspnea, Nephropathy |
ORPHA:87876 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Aggressive behavior, Self-mutilation, Babinski ... |
ORPHA:364028 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... |
ORPHA:99956 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Inability to wa... |
OMIM:618494 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Butyrylcholinesterase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Paralysis |
ORPHA:132 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... |
ORPHA:320375 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, High palate, Foot dor... |
ORPHA:2020 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Short stature, Congenital diaphragmatic hernia, Aggressive behavio... |
OMIM:300978 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:620138 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Epistaxis, Asplenia, Hematuria, Coombs-positive hemolytic anemia, ... |
OMIM:614034 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Neurofibrillary tangles, Abnormal pyramidal sig... |
OMIM:616840 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Gowers sign, Flexion contracture, Oligosaccha... |
ORPHA:365 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Spasticity, ... |
OMIM:618718 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus, Cleft palate, Seizure,... |
ORPHA:220497 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Impaired pain sensation, Impaired temperature sensation, Centrally nuclea... |
OMIM:619574 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self... |
OMIM:619827 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... |
ORPHA:280210 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Decreased muscle mass, Clonus, Infantile spasms, Aggressive behavior, Proximal mus... |
OMIM:617773 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Rigidity, Generalized muscle weakness, Abnormal brainste... |
ORPHA:88619 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Vomiting, Lethargy, Infectious encephalitis, Nausea, Abnormal medulla oblongata morpho... |
ORPHA:68 |
Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Chronic kidney disease, Hepatic amyloidosis, Cutaneous amyloido... |
ORPHA:314652 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment |
ORPHA:3225 |
Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon, Ataxia, Leukodystrophy, Spastic paraparesis |
OMIM:277580 |
Split Cord Malformation |
|
Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner... |
ORPHA:573278 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, High palate, Micropenis, Distal lower limb amyotrophy, Hyperactivity, Pain i... |
OMIM:300534 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Foo... |
OMIM:214500 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate... |
OMIM:612953 |
Developmental And Epileptic Encephalopathy 103 |
|
Delayed CNS myelination, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Epileptic spasm, ... |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Hyperkinetic movements, Polydipsia, Polyphagia |
ORPHA:525731 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Gm1 Gangliosidosis |
|
Tremor, Decreased beta-galactosidase activity, Gastroesophageal reflux, Decerebrate rigidity, Asp... |
ORPHA:354 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Flexion contracture, Macroglossia,... |
OMIM:613155 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Seizure, Spasticity, Aganglionic megacolon, Muscle weakness |
ORPHA:1497 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Impaired vibratory sensation, Colonic diverticula, Aganglionic megacolon, Intestinal malrotation,... |
OMIM:243180 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Ataxia, Short stature, Cryptorchidism, Polyphagia, Growth del... |
ORPHA:228402 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Abnormal circulating enzyme concentration or activity, ... |
ORPHA:565624 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Hepatomegaly, Bilateral tonic-cloni... |
ORPHA:163681 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Spina bifida occulta, Neurogenic bladder |
OMIM:613686 |
Marchiafava-Bignami Disease |
|
Ataxia, Urinary incontinence, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia... |
ORPHA:221074 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, High palate, Gastroesophageal reflux, Progressive spasticity, Abnormal repetitive manneri... |
OMIM:300260 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... |
ORPHA:70594 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Aggres... |
ORPHA:495875 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di... |
ORPHA:702 |
Nystagmus, Hereditary Vertical |
|
Ataxia |
OMIM:164150 |
Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hypertriglyceridemia, Hepatomegaly, C... |
ORPHA:247585 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Perry Syndrome |
|
Parkinsonism, Tremor, Weight loss, Dementia, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Low cholesterol esterification rate, Sple... |
OMIM:607625 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Seizure, Tetrapa... |
ORPHA:255182 |
Tetraploidy |
|
Chiari malformation, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr... |
OMIM:616267 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Axonal loss, Gliosis, Fatigable weakness of speech musc... |
ORPHA:404454 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Death in infancy, Corpus callosum atrophy, Sudanophilic leukodystrophy, ... |
OMIM:260600 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Bone Marrow Failure Syndrome 1 |
|
Sensorineural hearing impairment |
OMIM:614675 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Papilledema, Bilateral tonic-clonic seiz... |
ORPHA:2072 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Nephrolithiasis, Choreoathetosis... |
OMIM:620023 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
L1 Syndrome |
|
Skeletal muscle atrophy, Aganglionic megacolon, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydr... |
ORPHA:275543 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red c... |
OMIM:613179 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentra... |
OMIM:618733 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Obesity, Spasticity, Global brain atrophy |
OMIM:619255 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
Zaki Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Renal agenesis, Unsteady gait, Spastic ga... |
OMIM:619648 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Cleft palate, Seizure, ... |
OMIM:300958 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, P... |
ORPHA:411515 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Ataxi... |
OMIM:603553 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Miscarriage, Anorexia, Paralysis, Hematemesis, Paraparesis, Thromb... |
ORPHA:319251 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor f... |
OMIM:613280 |
Hartnup Disease |
|
Abnormal urinary color, Skin rash, Ataxia, Infectious encephalitis, Neutral hyperaminoaciduria |
ORPHA:2116 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal ... |
OMIM:229850 |
Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Achalasia, Hypospadias, Sh... |
OMIM:617053 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spas... |
OMIM:609541 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:99880 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Incoordination, Ataxia, Short stature, Aggressive behavior, Cryptorc... |
ORPHA:369891 |
Variegate Porphyria |
|
Paralysis, Porphyrinuria, Increased urinary porphobilinogen, Vomiting, Constipation, Elevated uri... |
OMIM:176200 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Hepato... |
ORPHA:158057 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Esophageal atresia, Hydrocephalus, Tracheoe... |
ORPHA:59315 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Protruding tongue, Splenomegaly, Optic atrophy, Spastic tetraplegia, Cerebr... |
OMIM:230600 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropen... |
OMIM:617303 |
Gaucher Disease, Type Iii |
|
Depression, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Seizure, Spasticity, Ve... |
ORPHA:457260 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Abn... |
ORPHA:77299 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... |
ORPHA:100024 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Lower limb muscle weakness, Bilateral tonic-clonic seizure, Atroph... |
ORPHA:395 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chor... |
OMIM:312170 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Gastroparesis, Impulsivity, Rigidity, Tremor, Diarrhea, Brad... |
ORPHA:2828 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Sclerocornea, Congenital diaphragmatic hernia, Hypertonia, Gastroesophageal ... |
ORPHA:818 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:143 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, S... |
OMIM:614104 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Inability to wal... |
OMIM:103050 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkins... |
OMIM:607060 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Generalized-onset seizure, Tremor, Flexion contracture, Renal cyst, Dysmetria, H... |
OMIM:212065 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus, Cleft palate, Seizure, Gait disturbance, Oc... |
ORPHA:220493 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Dysuria, Paralysis, Diarrhea, Paralytic ileus, Seizure, Respiratory paralys... |
OMIM:176000 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Cataract, Small for gestational age, Hypospadias, Diastasis recti, Aggressive beha... |
OMIM:123450 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
African Trypanosomiasis |
|
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, P... |
ORPHA:3385 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy |
OMIM:619092 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetrapares... |
ORPHA:268940 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity |
ORPHA:2429 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Multiple small medullary renal cysts, Renal cyst, Hepatic fibrosis,... |
OMIM:216360 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Spi... |
OMIM:162210 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Polyphagia, Incre... |
ORPHA:97279 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Anorexia, Hepatomegaly |
ORPHA:86893 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Urin... |
ORPHA:329478 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy |
ORPHA:2047 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... |
ORPHA:65682 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Pancreatic islet-... |
ORPHA:276608 |
Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... |
ORPHA:2552 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... |
ORPHA:477817 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Short stature, Aganglionic megacolon, Bilateral tonic-clonic seizure, Inability to... |
OMIM:614207 |
Aceruloplasminemia |
|
Tremor, Chorea, Gait ataxia, Hepatic fibrosis, Elevated hepatic iron concentration, Ataxia, Parki... |
ORPHA:48818 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypoparathyroidism, Hypertriglyceridemia, Bilateral tonic-clonic seizure, Pre... |
ORPHA:369837 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Corneal opacit... |
ORPHA:812 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Delayed CNS myelination, Hepat... |
OMIM:619487 |
Joubert Syndrome |
|
Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor aprax... |
ORPHA:475 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... |
OMIM:618325 |
Currarino Syndrome |
|
Neurogenic bladder, Tethered cord, Recurrent urinary tract infections, Urinary incontinence, Peri... |
OMIM:176450 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Clonic seizure, Opisthotonus, Choreoathetosis, Gait ataxia, Myoclonic seizure, Abnormal repetitiv... |
OMIM:619580 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Joubert Syndrome 37 |
|
Oculomotor apraxia, Micropenis, Cerebellar vermis hypoplasia, Hydronephrosis |
OMIM:619185 |
Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Tubuloin... |
ORPHA:358 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... |
ORPHA:93958 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypertonia, Leukodystr... |
ORPHA:3455 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis, Spastic tetraparesis, Abnormality of extrapyramidal motor function |
ORPHA:79314 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralys... |
ORPHA:221098 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Hypospadias, Ataxia, Involuntary movements, Abnormal eating behavi... |
ORPHA:209905 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
Cysticercosis |
|
Calcification of muscles, Somatic sensory dysfunction, Generalized-onset seizure, Ataxia, Confusi... |
ORPHA:1560 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Tremor, Dysmetria, High palate, Generalized amyotrophy, Limb dystonia, Ataxia, Athetosis, Seizure... |
ORPHA:572798 |
Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Kyphosis, Delayed myelination, Cryptorchidism |
OMIM:618512 |
Avian Influenza |
|
Respiratory distress, Lymphopenia, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Cerebellar v... |
OMIM:617988 |
Cog8-Cdg |
|
Cerebellar atrophy, Skeletal muscle atrophy, Chronic axonal neuropathy, Elevated hepatic transami... |
ORPHA:95428 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Miscarriage, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased se... |
ORPHA:96181 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Short stature, Aggressive behavior, Tremor, Bruxism, High palate, Br... |
OMIM:618342 |
Schinzel-Giedion Syndrome |
|
Vocal cord paralysis, Renal cyst, Anteriorly placed anus, Hypertonia, High palate, Hepatoblastoma... |
ORPHA:798 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Ataxia |
ORPHA:3350 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Short neck, Inability to walk, Cerebral atrophy, Hyperton... |
OMIM:616801 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Ba... |
OMIM:615838 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Ataxia, Splenomegaly, Ileus, Abnormal pyramidal sign, Seizur... |
ORPHA:163746 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, F... |
OMIM:607485 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG level, Inc... |
OMIM:209950 |
Trisomy X |
|
Cognitive impairment, Multicystic kidney dysplasia, Tremor, Attention deficit hyperactivity disorder |
ORPHA:3375 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Weight loss |
ORPHA:391 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Vomiting, Limb dystoni... |
OMIM:277900 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Renal hypoplasia, Spasticity, Nephrocalcinosis, Aminoaciduria, Renal artery st... |
OMIM:617913 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Short stature, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes m... |
ORPHA:769 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Astrocytoma, Glioma, Facial palsy, Bilateral vestibular schwannoma, ... |
ORPHA:637 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Akinesia |
OMIM:607598 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Tip-toe gait, Scolio... |
OMIM:606612 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Kyphosis, Gait disturbance, Decreased testicular size |
ORPHA:1875 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffma... |
OMIM:601162 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Skin rash, Maculopapular exant... |
ORPHA:540 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Cryptorchidism, Obes... |
ORPHA:3085 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Myotonic Dystrophy 1 |
|
Cataract, Cerebral atrophy, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-c... |
OMIM:160900 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Abnormality of the ... |
ORPHA:84 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon, Heterochromia iridis, Ataxia |
ORPHA:2885 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Choreoathetosis, Ureterocele, Micropenis, Hyperactivity, Precoc... |
ORPHA:1934 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Bowel incontinence, Aqueductal stenosis, Tremor, Chorea, Abnormal p... |
ORPHA:58 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis... |
ORPHA:449285 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Proteinuria, Chronic kidney disease, Obesity, Seizure, Attention deficit h... |
ORPHA:261222 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Lower limb spasticity, Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism,... |
ORPHA:363686 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia,... |
OMIM:213300 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Hepatomegaly, Delayed CNS myelination, Short neck, Kyphosis, Hepatosplenomega... |
OMIM:608776 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Ey... |
OMIM:234200 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus, Gastroesophageal reflux, ... |
ORPHA:567 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Pelvic girdle m... |
ORPHA:3044 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Abnormality of the kidney, Pneumonia, Keratitis, Cough, D... |
ORPHA:1163 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Generalized-onset seizure, Hypospadias, Diastasis recti, Larg... |
ORPHA:457485 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... |
OMIM:606071 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia |
ORPHA:537 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Si... |
ORPHA:1942 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Dysplastic corpus callosum, Micropenis, Hydrocele tes... |
OMIM:618810 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, A... |
ORPHA:369939 |
Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Postural tremor, Autophagic vacuoles, Elevated circulating creatine kinas... |
OMIM:619790 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Tremor, Seizure, Compulsive behaviors, Attention ... |
ORPHA:370079 |
Recombinant Chromosome 8 Syndrome |
|
Hypertonia, Hydronephrosis, Cerebral atrophy |
OMIM:179613 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Abnormal mesentery m... |
ORPHA:93941 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis |
ORPHA:505652 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Chorea, Progressive psychomotor deterioration, Progressive gait ataxia, Cho... |
ORPHA:309271 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Joubert Syndrome With Oculorenal Defect |
|
Renal insufficiency, Aganglionic megacolon, Ataxia, Hydrocephalus, Seizure, Nephropathy, Abnormal... |
ORPHA:2318 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Delayed myelination, Cleft palate, Anteriorly placed anus, ... |
OMIM:239300 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Muscle weakness, Histiocytosis |
ORPHA:139436 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... |
ORPHA:33355 |
Coach Syndrome 3 |
|
Renal insufficiency, Ataxia, Oculomotor apraxia, Stage 5 chronic kidney disease, Portal fibrosis,... |
OMIM:619113 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Thrombocytopenia, Splenomegaly, Jaundice, Tetraplegia... |
OMIM:267700 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Elevated circulating creat... |
ORPHA:79095 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Chiari type I malformation, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Gangliocytoma |
|
Distal muscle weakness, Abnormal cerebellum morphology, Focal-onset seizure, Abnormal brainstem m... |
ORPHA:251937 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Gastroesophageal reflux, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Noc... |
OMIM:619229 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Tethered cord, Urinary retention, Rectal abscess, Hydromyelia, ... |
OMIM:600145 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Adrenocortical adenoma, R... |
ORPHA:681 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Delayed CNS myelination |
OMIM:617767 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Unilateral cryptorchidism, Hamartoma of tongue, Optic disc coloboma, Horse... |
OMIM:174300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Tremor, Cer... |
OMIM:614080 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Small for gestational age, Hypertonia, Myoclonus, Abnormal myelination |
ORPHA:289266 |
Down Syndrome |
|
Cataract, Aganglionic megacolon, Impaired pain sensation, Protruding tongue, Abnormality of the l... |
ORPHA:870 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai... |
ORPHA:765 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finge... |
ORPHA:356961 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Gowers sign, Dysmetria, Increased muscle glycogen content, High palate, Mildly elevated c... |
ORPHA:502423 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal... |
OMIM:301900 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Dysphagia, Failure to thrive, Limb ... |
OMIM:617162 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Proportionate short stature, Seizure, Aminoaciduria, Anemia |
ORPHA:99688 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements, Nephronophthisis |
OMIM:257550 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Leukodystroph... |
ORPHA:51 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Delayed CNS myelination, Hyperactivity, Small for gestational age, Scapular winging, Bilateral cr... |
OMIM:617796 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity, Motor deterio... |
OMIM:312750 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Thrombocytopenia, I... |
OMIM:610539 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Tremor, Conjunctivitis, Male hypogonadism, Hepatomegaly, Ata... |
ORPHA:90321 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Dementia, Urinary retention, Myoclonus, Dysphagia |
OMIM:600072 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the cerebellum, Micropenis,... |
ORPHA:1926 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... |
OMIM:146500 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
Wiedemann-Rautenstrauch Syndrome |
|
Sudanophilic leukodystrophy, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Generaliz... |
OMIM:264090 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Lesch-Nyhan Syndrome |
|
Poor head control, Dystonia, Short stature, Megaloblastic anemia, Nephrolithiasis, Opisthotonus, ... |
OMIM:300322 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... |
ORPHA:990 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia, Histiocytosis |
ORPHA:157991 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Delay... |
OMIM:618443 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in... |
ORPHA:183 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Death in infancy, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia |
ORPHA:139406 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Progressive spastic quadriplegia, Irritability, Spas... |
OMIM:207800 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Neurogenic bladder, Elbow contracture, Ulcerative colitis... |
OMIM:617137 |
Triple A Syndrome |
|
Ataxia, Optic atrophy, Abnormality of the calf musculature, Seizure, Abnormality of the hypothena... |
ORPHA:869 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:98863 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Self-biting, Gastroesophageal reflux, Abnormal repetitive mannerisms, Hyper... |
OMIM:300912 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Dystonia, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosi... |
OMIM:616271 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Microcytic anemia, Kyphosis, Abnormal sacrum morphology, Abnormal cer... |
ORPHA:324737 |
Nail-Patella Syndrome |
|
Renal insufficiency, Acroparesthesia, Proteinuria, Abnormality of the kidney, Impaired temperatur... |
ORPHA:2614 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... |
ORPHA:180229 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:261 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr... |
ORPHA:646 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... |
ORPHA:144 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:98853 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:2198 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Chiari ... |
OMIM:618476 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Weight loss, Organic aciduria, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Glioblastoma |
|
Glioblastoma multiforme, Emotional lability, Paralysis |
ORPHA:360 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... |
OMIM:615516 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Renal interst... |
ORPHA:93126 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Gait disturbance, Cachexia, Hyperlordosis |
ORPHA:157973 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha... |
ORPHA:99965 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly... |
ORPHA:94080 |
Alstrom Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Asthma, Recurrent pneumonia, Tubulointerstitial ne... |
OMIM:203800 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o... |
ORPHA:1727 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Neurofibrillary tangles, Parkinsonism with favorable response t... |
ORPHA:199351 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Inability to walk, Hydronephrosis, Limb hypertonia |
ORPHA:488613 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Spastic paraplegia, Blue irides... |
OMIM:148820 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Midline brainstem ... |
OMIM:617542 |
Kallmann Syndrome |
|
Hypoplasia of penis, Tremor, Micropenis, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, O... |
ORPHA:478 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Neurofibrillar... |
OMIM:609454 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... |
ORPHA:731 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gland morphology, ... |
ORPHA:2298 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Hemiplegia, Attention deficit hyperactiv... |
ORPHA:79254 |
Micro Syndrome |
|
Hypoplasia of penis, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal local... |
ORPHA:2510 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Bowel incontinence, Fle... |
ORPHA:682 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
H Syndrome |
|
Hypertriglyceridemia, Short stature, Diabetes mellitus, Microcytic anemia, Malabsorption, Hydroce... |
ORPHA:168569 |
Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Hematuria, Anemia, Neoplasm of the liver, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Diabetes mellitus, Small for gestational age, Distal muscle weakness, Proportio... |
ORPHA:391408 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Delayed CNS myelination, Cerebellar vermis hypoplasia, Hyperactivity, Aggre... |
OMIM:620242 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Punding, Attention... |
ORPHA:64280 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Poor head control, Ataxia, Eczema, Bilateral tonic-clo... |
OMIM:617799 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brai... |
OMIM:617186 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Spasticity, Gait ataxia, Seizure, Microphallus, Mic... |
OMIM:300486 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Short stature, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:617675 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... |
ORPHA:440437 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... |
OMIM:618901 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... |
OMIM:620161 |
Brucellosis |
|
Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Ep... |
ORPHA:1304 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Infantile spasms, Aggressive behavior, Tremor, Cryptorch... |
OMIM:608093 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Infectious encephalitis, Arthritis |
ORPHA:42642 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased ser... |
ORPHA:247768 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Dementia, Hy... |
OMIM:176500 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Spasticity, Intention tremor |
OMIM:117300 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Seizure, Hyp... |
ORPHA:79477 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Short stature, Unilateral ... |
OMIM:620024 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Seizure, Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia, Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, En... |
OMIM:620047 |
Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, Tremor, Flexion contracture, Gastroesophageal reflux, Vesicour... |
ORPHA:821 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Generalized amyloid deposition, Splenomegaly, Cholestasis, Hematuria, ... |
OMIM:105200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Hypertonia, Spastic parap... |
ORPHA:760 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Seizure, Gait d... |
ORPHA:778 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurr... |
OMIM:613101 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa... |
ORPHA:39812 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Tremor, Abnormal repetitive manneri... |
OMIM:619312 |
Ataxia-Telangiectasia |
|
Failure to thrive, Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis, ... |
OMIM:208900 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Hypothyroidism, O... |
ORPHA:254346 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial ... |
OMIM:251000 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Spastic tetraplegia, Abnormality of the urinary system, Hypertonia, Cerebellar hypop... |
ORPHA:96092 |
Hypokalemic Tubulopathy And Deafness |
|
Sensorineural hearing impairment |
OMIM:619406 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short stature, Postnatal growth retardation, Cryptorchidism, Partial agene... |
ORPHA:3338 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Hypospadias, Ataxia, Unilateral renal agenesis, Cerebral cortical atrophy, Ce... |
OMIM:616737 |
Hyperlysinemia |
|
Tremor, Dysmetria, Opisthotonus, Cystinuria, Vomiting, Gastroesophageal reflux, Hyperactivity, Cl... |
ORPHA:2203 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Poor head control, Agenesis of cerebellar vermis, Hypoplasia of the pons, H... |
OMIM:613153 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen... |
ORPHA:2232 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Sjogren-Larsson Syndrome |
|
Short stature, Opacification of the corneal epithelium, Flexion contracture, Seizure, Astigmatism... |
OMIM:270200 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Behçet Disease |
|
Myositis, Pulmonary embolism, Abnormal pyramidal sign, Infectious encephalitis, Glomerulopathy, A... |
ORPHA:117 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Short stature, Hyperactivity, Cachexia, Aggressive behavio... |
ORPHA:85293 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Failure to thrive, Recurrent skin infections |
OMIM:617744 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, External ophthalmoplegia, Hydrocephalus, Hydrocele testis, Seizure, Brain ... |
OMIM:613603 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Ddost-Cdg |
|
Tremor, Failure to thrive, Oromotor apraxia, Nephrotic range proteinuria |
ORPHA:300536 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, ... |
OMIM:274150 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thromboc... |
ORPHA:158048 |
Trisomy 13 |
|
Abnormality of the ureter, Chiari malformation, Multiple renal cysts, Displacement of the urethra... |
ORPHA:3378 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, F... |
ORPHA:2152 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Slurred speech, Renal tubular epithelial necrosis, Renal tubular dys... |
ORPHA:31826 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Abnormal pupil morphology, Flex... |
ORPHA:261552 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Delayed myelination, Cerebral atrophy, Scolios... |
OMIM:314580 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Hypospadias, Eczema, Recur... |
OMIM:617751 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Acute demyelinating polyneuropathy, Arthrit... |
ORPHA:448237 |
Tetrasomy 15Q26 |
|
Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Difficulty walking |
ORPHA:531151 |
Meningococcal Meningitis |
|
Renal insufficiency, Neonatal respiratory distress, Skin rash, Paresthesia, Infectious encephalitis |
ORPHA:33475 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Dystonia, Urinary incontinence, Decreased nerve conduction velocity, Babins... |
ORPHA:309263 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis |
OMIM:615834 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Horseshoe kidney, Athetosis, Cerebellar hypoplasia, Hydronephrosis |
OMIM:311900 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Seizure, Dysphagia, Intrauterine growth retardation, Hypoplastic spleen, Agen... |
ORPHA:89844 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Compulsive behaviors, Basal gangli... |
ORPHA:3008 |
Haddad Syndrome |
|
Death in infancy, Small for gestational age, Aganglionic megacolon, Seizure, Gastroesophageal ref... |
ORPHA:99803 |
Capillary Malformation-Arteriovenous Malformation |
|
Seizure, Neurogenic bladder, Abnormality of the musculature of the limbs |
ORPHA:137667 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia |
ORPHA:230800 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Tetanus |
|
Respiratory distress, Elevated urinary norepinephrine level, Tremor, Rigidity, Tachypnea, Elevate... |
ORPHA:3299 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple... |
ORPHA:53035 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Flexion contracture, Vesicouret... |
ORPHA:261537 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Pain insensitivity, Hyperactivity, Emotional lability, Abnormal autonomic nervous system physiolo... |
OMIM:256800 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ... |
ORPHA:464306 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... |
ORPHA:3339 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Seizu... |
ORPHA:163961 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Decreased female libido, Reduced c... |
ORPHA:95512 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chronic kidney dise... |
ORPHA:25 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Stage 5 chron... |
OMIM:610688 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Congenital Disorder Of Deglycosylation 1 |
|
Oral-pharyngeal dysphagia, Chorea, Dysmetria, Myoclonic seizure, Gliosis, Hepatic fibrosis, Chond... |
OMIM:615273 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Cerebral atrophy, Spasticity, Attention deficit hyperactivity disorder, M... |
OMIM:612513 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Lipodystrophy, Familial Partial, Type 7 |
|
Polyuria, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Dysdiadochoki... |
OMIM:606721 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Short stature, Intestinal malrotation, Supernumerary nipple, Delayed peri... |
OMIM:605039 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal brainstem MRI signal intensity, Diarrhea, Abnormal pyramidal sign, Seizure, Abno... |
ORPHA:51188 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Abnormal repetitive mannerisms, Chorea, Myoclonus, Attention defic... |
OMIM:617600 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Hemolytic-ure... |
OMIM:611209 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive |
OMIM:618234 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Abnormal central motor function |
ORPHA:91351 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss, Lymphade... |
ORPHA:1332 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Delayed CNS myelination, Facial palsy, Short neck, Kyphosis, Inability to walk, Scoliosis, Brain ... |
OMIM:301041 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy,... |
OMIM:615084 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Generalized-onset seizure, Confusion, Paralysis, Focal-onset seizure, Leukocytosis, Status epilep... |
ORPHA:83601 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis, Dandy-Walker malformation |
OMIM:220210 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Lead Poisoning |
|
Somatic sensory dysfunction, Skin rash, Small for gestational age, Asthma, Chronic kidney disease... |
ORPHA:330015 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Abnormality of neutrophils, Abnormal brainstem morphology, Seizure, Hypertonia, Hypochrom... |
ORPHA:2720 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Anorexia, Spa... |
ORPHA:20 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventriculomegaly, Corneal opacity, Camptodactyly of finger, Intestinal malro... |
ORPHA:99776 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Progressive neurologic deterioration, L... |
ORPHA:263455 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Flexion contracture, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Hepato... |
ORPHA:581 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Dystonia, Abnormal stomach morphology, Decreased ne... |
ORPHA:512 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Renal tubular epithelial necro... |
ORPHA:49041 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Seizure, Aniridia, ... |
OMIM:602361 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Neurocutaneous Melanocytosis |
|
Renal hypoplasia/aplasia, Hemiparesis, Seizure, Syringomyelia, Chiari malformation, Aplasia/Hypop... |
ORPHA:2481 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Spastic diplegia |
OMIM:300048 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hypertonia, Hydronephrosis |
ORPHA:2083 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Urinary incontinence, Decreased nerve conduction velocity, Babinski sign, Optic atrophy... |
ORPHA:309256 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... |
ORPHA:481 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diarrhea, Diaphragma... |
ORPHA:228371 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cerebellar hypoplasia, Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Multicystic kidney dysplasia, Gait disturbance, Cerebellar hypoplasia, Att... |
ORPHA:261349 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Cerebellar hypoplasia, Vesicoureteral reflux, Micropen... |
OMIM:301056 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Anorexia, Leukocytosis, Weight loss, Agitation, Oral aversion, E... |
ORPHA:134 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... |
ORPHA:251061 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Chronic mucocutaneous candidias... |
OMIM:209920 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Rena... |
ORPHA:261494 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Elevated circulating creatine kinase concentration, ... |
ORPHA:1320 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Dysmetria, Abnormal optic disc morphology, High palate, Abnormal... |
ORPHA:96121 |
Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagi... |
ORPHA:280195 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Trem... |
OMIM:251100 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nep... |
ORPHA:289390 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, H... |
ORPHA:464311 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... |
OMIM:612164 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Global brain atrophy, Peripheral axonal neuropathy, Hypertonia, Cerebral dysmyelination |
OMIM:611722 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated hemoglobin A1c, Babinski ... |
OMIM:616192 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Joubert Syndrome With Hepatic Defect |
|
Tremor, Nephropathy, Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Hepatomegaly,... |
ORPHA:1454 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Respiratory paralysis, P... |
ORPHA:79102 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... |
ORPHA:98850 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Abnormality of the kidney, Respiratory failure, 3-Methylglutaconic aciduria, Infecti... |
ORPHA:1194 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, Gliosis... |
ORPHA:506358 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Cachexia, Babinski sign, CNS hypomyelination, Facial diplegia, Spasticity |
OMIM:618186 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Tremor, High palate, Foot dorsiflexor weaknes... |
OMIM:164310 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Gastrointestinal dysmotility, Abnormal pyram... |
ORPHA:2131 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Obesity, Cleft palate, Azoospermia, S... |
ORPHA:96263 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology, Leukodystrophy |
ORPHA:370997 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Scoliosi... |
ORPHA:90322 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Stage 5 chronic kidney disease, Renal cyst, Hypo... |
OMIM:611560 |
Parkinson Disease 21 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Lewy bodies |
OMIM:616361 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Small for gestational age, Hypospadias, Ataxia, Tremor, Cryptorchidism, Growth delay, S... |
OMIM:614052 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Enuresis, Compulsive behav... |
ORPHA:293987 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, C... |
ORPHA:447788 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Gastroesophageal reflux, Compulsive behaviors, Abnormal anterior ch... |
ORPHA:2044 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Lewy bodies |
OMIM:614251 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Somatic sensory dysfunction, Dysuria, Urinary incontinence, Trem... |
ORPHA:79276 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:50251 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Tremor, Cryptorchidism, Cleft palate, Azoosper... |
ORPHA:96264 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure, Dystonia, A... |
ORPHA:330021 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Urinary incontinence, Clonus,... |
OMIM:609727 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Optic atrophy, Dys... |
OMIM:619708 |
Chromosome 18Q Deletion Syndrome |
|
Delayed CNS myelination, Broad-based gait, Hypospadias, Decreased response to growth hormone stim... |
OMIM:601808 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Leukopenia, Renal fibrosis, Vomiting, Lethargy, Decreased glomerula... |
ORPHA:470 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Horseshoe kidney, Cerebellar hypoplasia, Spasticity |
OMIM:617140 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Trisomy 1Q |
|
Cerebellar hypoplasia, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis, Cerebral atrophy |
OMIM:300337 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ... |
ORPHA:284 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls |
ORPHA:75840 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss, Lewy bodies, Parkinsonism, Dementia |
OMIM:605543 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Cataract, Aganglionic megacolon, Facial palsy, Renal hypoplasia, Horseshoe kidney,... |
OMIM:607323 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypertonia, Polycystic kidney dysplasia, ... |
ORPHA:261290 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomega... |
ORPHA:781 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Kury-Isidor Syndrome |
|
Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:619762 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, El... |
OMIM:162300 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Seizure, Abnormal ... |
OMIM:617516 |
Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon, Heterochromia iridis, Blue irides |
OMIM:613265 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,... |
ORPHA:3226 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Unsteady gait, Albuminuria, Aminoaciduria, Cerebral cortical atrophy, Dysphagia, Los... |
OMIM:214100 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Protruding tongue, Paroxysmal bursts of laughter, Blue i... |
OMIM:105830 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Hepatosplenomega... |
ORPHA:85450 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Delayed CNS myelination, Facial hypotonia, Tremor, Cryptorchidism, Lateral ventric... |
OMIM:617557 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Cryptorchidism, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Intellectual Disability, Buenos-Aires Type |
|
Spastic gait, Hydronephrosis |
ORPHA:3079 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... |
ORPHA:400 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Ataxia, Short s... |
OMIM:300998 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Subcortical cerebral atrophy, High palate, Gastroesophageal refl... |
ORPHA:468678 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Cerebellar hypoplasia, Scoliosis, Agenesis of corpus callosum |
ORPHA:238750 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... |
ORPHA:761 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Short stature, Cryptorch... |
ORPHA:2473 |
Dpagt1-Cdg |
|
Tremor, Flexion contracture, Hypertonia, Diffuse optic disc pallor, Hepatomegaly, Ataxia, Focal m... |
ORPHA:86309 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Joubert Syndrome 2 |
|
Renal insufficiency, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor aprax... |
OMIM:608091 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Chronic kidney disease, Cholestasis, Nephrotic syndrome, Amyloidosis, ... |
ORPHA:85445 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Steatorrhea, Hepatic failure, Anemia |
ORPHA:75233 |
Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon, Heterochromia iridis |
ORPHA:895 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis |
OMIM:217090 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis |
OMIM:618484 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Stereotypical hand wringing, Hydronephrosis, Spastic tetraparesis |
OMIM:619179 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Metrorrh... |
ORPHA:370348 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Lateral ventricle dilatation, Cerebellar h... |
OMIM:618291 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the cerebellum, Hydronephrosis, Dandy-Wal... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Dystonia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:610505 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral b... |
OMIM:230500 |
Metatropic Dysplasia |
|
Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ... |
OMIM:156530 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esopha... |
ORPHA:71272 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Waddling gait, Ureteral duplication, Aggressive behavior, Inability to walk, Hand tremor, Duplica... |
ORPHA:457212 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... |
OMIM:307200 |
Trisomy 20P |
|
Incoordination, Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Aganglionic megacolon, Corneal opacity, Severe short stature, Camptodactyly of finge... |
ORPHA:2273 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:276621 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Renal dysplasia |
OMIM:618183 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Aggressive behavior, Inability to walk, Cerebral atrophy, Male urethral meatus steno... |
ORPHA:464738 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Cleft palate, Growth delay, Seizure, Vesicoureteral reflux,... |
OMIM:614749 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Renal hypoplasia, Renal cyst, Hypertonia, Dys... |
OMIM:618460 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
Alg1-Cdg |
|
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy |
ORPHA:79327 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Scoliosis |
ORPHA:2598 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Hypospadias, Small for gestational age, Short stature, Aggressive b... |
OMIM:619148 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft hard pala... |
OMIM:619680 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Hemolytic anemia, Generalized lymphadenopathy, Hepatom... |
OMIM:615846 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Keratitis, Xerostomia, Smooth tongue, Abnormal auton... |
ORPHA:1051 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Bilateral tonic-cloni... |
OMIM:617281 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Spinal rigidi... |
ORPHA:352447 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Chiari malformation, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Wei... |
ORPHA:47 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia, Loss of... |
OMIM:607371 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... |
ORPHA:97349 |
Scleromyxedema |
|
Distal muscle weakness, Abnormality of the kidney, Proximal muscle weakness, Hypoperistalsis, Abn... |
ORPHA:167635 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Hydroureter, Tremor, Partial absence of cerebellar vermis, Hypertrophy of the... |
ORPHA:280633 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:255200 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Dyspnea, Babinski sign, Renal tubular dysfunction, Hypertonia, G... |
OMIM:616539 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia |
ORPHA:3386 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Abnormal skeletal ... |
ORPHA:142 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... |
ORPHA:3440 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Severe short stature, Short stature, Congenital diaphragmatic hernia, ... |
OMIM:601186 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Enterocolitis |
OMIM:142623 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Corneal arcus, Joint contracture of the 5t... |
OMIM:602782 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Unsteady gait, Hydronephrosis, Involuntary movements |
OMIM:617798 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Paresthesia, Uveitis |
ORPHA:91546 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity... |
ORPHA:98855 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Ataxia, Methylmalonic aciduria |
ORPHA:1933 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Attrv122I Amyloidosis |
|
Abnormal autonomic nervous system physiology, Left ventricular hypertrophy, Abnormal enteric nerv... |
ORPHA:85451 |
Serotonin Syndrome |
|
Restlessness, Acute kidney injury, Confusion, Clonus, Tremor, Rigidity, Hypertonia, Agitation, My... |
ORPHA:43116 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... |
ORPHA:97289 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Cachexia... |
ORPHA:824 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Ataxia, Short stature, Premature ovarian insufficiency, Increased circulating gonad... |
ORPHA:243 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Abnormal spinal cord morphology, Cognitive impairment |
ORPHA:494 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral re... |
OMIM:308205 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Tubulointerstitial nephr... |
OMIM:124000 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Ventriculomegaly, Failure to thrive, Optic nerve hypop... |
OMIM:615574 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Inability to walk, Kyphosis, Cryptorchidism, Obesity, Hypogonadism,... |
OMIM:615547 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive |
ORPHA:536516 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Generalized amy... |
ORPHA:171 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal... |
ORPHA:96169 |
Distal Deletion 10Q |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facial dipleg... |
ORPHA:96148 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Small for gestational age,... |
OMIM:208085 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypopla... |
ORPHA:2604 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Hypospadias, Hydronephrosis, Cerebral atrophy |
OMIM:616449 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized non-motor (absence) se... |
OMIM:619338 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Cardiac amyloidosis, Nephrotic syndrome, Generalized amyloid deposition |
OMIM:105120 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Respiratory insufficiency, ... |
OMIM:208500 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Anal ... |
OMIM:250250 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Hepatomegaly, Poor head control, Ataxia, Optic neuropathy, Focal T2 hyperinten... |
ORPHA:2609 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... |
OMIM:607155 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Renal hypoplasia, Renal tubul... |
ORPHA:37553 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Elevated urinary catecholamine level, Pancreatic islet cel... |
ORPHA:892 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Rhizomelia, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Apla... |
ORPHA:175 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Polymicrogyria, Red-brown urine, Stage 5 chronic kidney disease, R... |
ORPHA:157 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Poems Syndrome |
|
Papilledema, Weight loss, Lymphadenopathy, Increased circulating antibody level, Paresthesia, Hyp... |
ORPHA:2905 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Aplasia/Hypoplasia of the cerebellum, Glandular hypospadias |
ORPHA:1358 |
Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Hydronephrosis, Bruxism, Vesicoureteral ref... |
ORPHA:48652 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... |
ORPHA:97360 |
Congenital Central Hypoventilation Syndrome |
|
Abnormality of the autonomic nervous system, Seizure, Aganglionic megacolon, Ganglioneuroma |
ORPHA:661 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Dyspnea, Tubulointerstitial nephritis, Failure to thrive |
OMIM:614582 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Biotinidase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Infantile spasms, Optic atrophy, Focal ... |
ORPHA:79241 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Increased circulating IgE level, Scoliosis |
ORPHA:1858 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Periodic paralysis, Rhabdomyolysis, Weight loss, Muscle weakness, Goiter |
OMIM:188580 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Renal hypoplasia, Renal cyst, Cerebral cortical atrophy, Microphall... |
OMIM:618454 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis |
OMIM:170400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Short neck, Weight loss, Failure to thrive, Anemia |
ORPHA:1842 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss |
ORPHA:26790 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology |
ORPHA:897 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidis... |
ORPHA:797 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy, Paralysis, Limb m... |
OMIM:612300 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Majeed Syndrome |
|
Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic anemia, Splenomega... |
ORPHA:77297 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... |
OMIM:608836 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abno... |
ORPHA:101330 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome... |
ORPHA:131 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Babinski sign, Abnormal py... |
OMIM:617527 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, Infertility, Steatorrhea, Thrombo... |
OMIM:212750 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Cataract, Dystonia, Clonus, Tremor, Jaundice, Neutropenia, Cerebral atrophy, Gr... |
OMIM:617248 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Low... |
OMIM:169400 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Involuntary movements, Short stature, Ectopic kidney, Cryptor... |
ORPHA:3063 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Piebaldism |
|
Aganglionic megacolon, Heterochromia iridis, Ataxia |
ORPHA:2884 |
Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Camptodactyly of finger, Keratitis, Hemiplegia/hemiparesis, Uveitis, Sei... |
ORPHA:464 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochrom... |
ORPHA:514 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Paresthesia, Eosinophilia, Weight loss |
ORPHA:3165 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Corneal erosion, Vesicoureteral reflux, Megalocornea, Corneal ulceration, ... |
OMIM:609460 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis |
ORPHA:568 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Apraxia, Me... |
OMIM:606889 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Abnormal ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Abnormal ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Abnormal ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Abnormal ... |
ORPHA:93924 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Hydronephrosis |
ORPHA:2839 |
Urban-Rogers-Meyer Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Increased circulating IgE level, Obesity, Hypogonadism |
ORPHA:3409 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... |
ORPHA:340 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Renal hypoplasia, Bicornuat... |
OMIM:137920 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Delayed CNS myelination, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal... |
OMIM:619512 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Distal sensory impairment, ... |
OMIM:181405 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Short stature,... |
OMIM:235730 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Oliguria, Hematuria, Paresthesia |
ORPHA:727 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Spasticity, Cerebral atrophy, Micropenis, Abnormal repetitive manner... |
OMIM:301040 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cereb... |
ORPHA:444072 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Cryptorchidism, Obesity, Narrow pa... |
OMIM:616078 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Megacystis, Pyelonephrit... |
OMIM:619351 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Generalized-onset seizure, Hemiparesis, Dysphagia, Achalasia, Thrombocytopenia |
OMIM:615750 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Rectal prolapse, Microcornea, High palate, Self-mutilation, Iris coloboma, H... |
OMIM:309800 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build |
OMIM:254090 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Diabetes mellitus, Short stature, Intestinal malrotation, Ectopic kidney... |
ORPHA:94063 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Optic atrophy, Progressive... |
ORPHA:521426 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Dysphagia, Weight loss, Steatorrhea, Anemia |
ORPHA:2070 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:29072 |
Visceral Myopathy 1 |
|
Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pneumothorax, Respiratory insufficiency,... |
ORPHA:90349 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Agenesis of corpus callosum, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Weight loss, Decreased circulating antibody level, Decreased ci... |
ORPHA:90362 |
Tetrasomy 18P |
|
Seizure, Achalasia, Gait disturbance |
ORPHA:3307 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality ... |
ORPHA:85443 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repetitive manneri... |
OMIM:618653 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Tarp Syndrome |
|
Broad-based gait, Horseshoe kidney, Cerebellar hypoplasia, Athetoid cerebral palsy, Hydronephrosis |
ORPHA:2886 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Hurler Syndrome |
|
Hepatomegaly, Death in infancy, Cerebral palsy, Corneal opacity, Short stature, Abnormality of th... |
ORPHA:93473 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Dementia, Generalized amyloid deposition |
OMIM:105150 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Testicular atrophy, Intestinal malrotation, Congenital diaphragmati... |
OMIM:601163 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Brain atrophy, Nephroblasto... |
ORPHA:314585 |
Gaucher Disease |
|
Tremor, Hepatomegaly, Death in infancy, Ataxia, Short stature, Hemiplegia/hemiparesis, Hepatitis,... |
ORPHA:355 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Dysesthesia, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydronephr... |
ORPHA:2953 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Clumsiness, Weight loss, Decreased circulating total IgM, Ga... |
ORPHA:420741 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Agenesis of cor... |
ORPHA:2396 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Scoliosis |
ORPHA:61 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Gastroesoph... |
ORPHA:779 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Cerebellar atrophy, Ataxia, Cerebral atrophy, Bifid ureter, Hydrone... |
OMIM:267750 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Babinski sign, Optic atrop... |
OMIM:231550 |
Igg4-Related Aortitis |
|
Low back pain, Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophil... |
ORPHA:449400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Polymicrogyria, Red-br... |
ORPHA:228308 |
Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Self-mut... |
ORPHA:96149 |
Inhalational Botulism |
|
Paralysis, Diarrhea, Xerostomia, Urinary retention, Constipation, Muscle weakness |
ORPHA:254504 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Lafora bodies, Progressive cerebellar ataxia, Myoclo... |
OMIM:616640 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Vocal cord paralysis, Leukopenia, Iron def... |
OMIM:619488 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Short neck, Spastic tetraplegia, Scoliosis, Hyperesthesia, Severe failure to thrive |
ORPHA:371364 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Renal agenesis, Episodic tachypnea, Renal hypoplasia/aplasia, Tremor, Ataxia, Abnormality ... |
ORPHA:2754 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Heterochromia iridis, Cleft palate |
ORPHA:894 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Bilateral tonic-clonic seizure, Pure red cell aplasia, Erythroid hypoplasia, Growt... |
OMIM:618165 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Enlarged to... |
OMIM:607014 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Leukocytosis, Weight loss, Anemia, Leukopenia, Hematuria, Addictive alcoh... |
ORPHA:520 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Short stature, Unilateral renal agenesis, Congenital diaphragmatic hernia,... |
OMIM:154400 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Cerebellar hypoplasia, Renal dysplasia, Dandy-Walker malformation |
OMIM:300968 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Hyperactivity, Hypospadias, Small for gestational age, Short stature, Cr... |
OMIM:309590 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Seizure, Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegi... |
ORPHA:171436 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:47612 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Spasticity, Hydronephrosis |
ORPHA:541423 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis, Cerebral atrophy |
OMIM:201000 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Stage 5 chronic kidney dis... |
OMIM:222700 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Pontocerebellar Hypoplasia, Type 17 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetraplegia, Cerebellar h... |
OMIM:619909 |
Takayasu Arteritis |
|
Weight loss, Anemia, Anorexia |
ORPHA:3287 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Anemia |
ORPHA:2930 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Proximal ... |
OMIM:185070 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Agenesis of cerebellar vermis, Spasticity, Cerebellar hemisphere hy... |
OMIM:615287 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Kyphosis, Cryptorchidism, Cerebral atrophy, Lateral ventricle dilatation... |
OMIM:619244 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Kyphosis, Cryptorchidism, Cerebral atrophy, Scoliosis, Failure to thr... |
OMIM:609029 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Tremor, Postnatal growth retardation, Thrombocytopenia, Optic atrophy, Abn... |
OMIM:612199 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism, Hepat... |
OMIM:615381 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomegal... |
ORPHA:1328 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, B lymphocytope... |
OMIM:301078 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Harrod Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive, Cerebral cortical atrophy |
ORPHA:2115 |
Say-Barber-Miller Syndrome |
|
Short stature, Impaired neutrophil chemotaxis, Cryptorchidism, Babinski sign, Optic atrophy, Elbo... |
ORPHA:3132 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Facial palsy, Clonus, Elevated circulating creatine kinase concen... |
OMIM:619424 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Aganglionic megacolon, Postnatal growth retardation, Optic disc coloboma, Horseshoe kid... |
ORPHA:959 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the... |
OMIM:253000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis |
OMIM:300280 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, External genital hypoplasia, Paralysis |
OMIM:242100 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis |
ORPHA:3191 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Aggressive behav... |
OMIM:620330 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, Dysphagia, EMG: myopathic abnormalities, Periodic hypoka... |
ORPHA:684 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Spasticity, Hydronephrosis |
OMIM:617093 |
Fucosidosis |
|
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetraple... |
ORPHA:349 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Short neck, Tremor, Kyph... |
OMIM:300966 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hepatomegaly, Gastroin... |
OMIM:276700 |
Lassa Fever |
|
Oliguria, Dysphagia |
ORPHA:99824 |
Crisponi Syndrome |
|
Kyphosis, Hypertonia, Scoliosis |
ORPHA:1545 |
Polyarteritis Nodosa |
|
Polyneuritis, Sensory axonal neuropathy, Weight loss |
ORPHA:767 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Alkuraya-Kucinskas Syndrome |
|
Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Camptodactyly, Ocu... |
OMIM:617822 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia, Weight loss |
ORPHA:1302 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Hemiparesis, Acute kidney injury |
OMIM:235400 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Ureteral stenosis, Proteinuria, Diabetes insipi... |
ORPHA:900 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Fetal pyelectasis, Bilateral ren... |
ORPHA:49 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hypertonia, Decreased circulatin... |
ORPHA:508533 |
Mend Syndrome |
|
Hyperactivity, Cataract, Short stature, Abnormal auditory evoked potentials, Aggressive behavior,... |
ORPHA:401973 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Scoliosis |
OMIM:108145 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Subcortical cerebral atrophy, Cerebral corti... |
ORPHA:2995 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse,... |
ORPHA:904 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Gait disturbance, Cachexia, Proteinuria |
ORPHA:2774 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Subependymal giant-cell astrocytoma, Pheochromocytoma, Ca... |
ORPHA:805 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
Legius Syndrome |
|
Hyperactivity, Cataract, Short stature, Acute monocytic leukemia, Dystonia, Neurofibroma, Nephrol... |
ORPHA:137605 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Tremor, Hydronephrosis, D... |
ORPHA:2750 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoi... |
OMIM:253220 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Impulsivity, Vesicoureteral reflux, Hydronephr... |
OMIM:610443 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Polymyositis |
|
Hepatomegaly, Gait disturbance, Anorexia, Weight loss |
ORPHA:732 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Oculogyric crisis, Pulmonary... |
ORPHA:94093 |
Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Hydronephrosis, Hypertonia, Oculomotor apraxia, Cerebral cortical atrophy |
OMIM:115150 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Bruxism, Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Giant Cell Arteritis |
|
Renal insufficiency, Ataxia, Anorexia, Weight loss, Hematuria, Paresthesia, Hepatic failure |
ORPHA:397 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Neoplasm of the thymus, Chorea, Opisthotonus, Choreoathetosis, Abnorma... |
ORPHA:217253 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Weight loss |
ORPHA:2221 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Mend Syndrome |
|
Hyperactivity, Cataract, Short stature, Cryptorchidism, Hydrocephalus, Seizure, Hypertonia, High ... |
OMIM:300960 |
Cocaine Intoxication |
|
Respiratory distress, Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, Wheezing, T... |
ORPHA:90068 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Eosinophilia, Anorexi... |
ORPHA:199299 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia, Scoliosis, Hepatomegaly |
ORPHA:1133 |
Scheie Syndrome |
|
Hepatomegaly, Cerebral palsy, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Spastic parap... |
ORPHA:93474 |
Pycnodysostosis |
|
Cerebral dysmyelination, Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Chiari malforma... |
ORPHA:763 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis, Lafora bodies |
ORPHA:324290 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Chi... |
OMIM:258040 |
Immunodeficiency 70 |
|
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Dementia, Dysphagia, Slender buil... |
OMIM:603041 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Failure to thrive |
ORPHA:94065 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Weight loss, Scoliosis, Abnormal vertebral morphology, Anemia |
ORPHA:324964 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Crossed fused renal ectopia, Bifid... |
ORPHA:2919 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Alg9-Cdg |
|
Cerebellar atrophy, Hypoplasia of the bladder, Torticollis, Lower limb spasticity, Ureteral hypop... |
ORPHA:79328 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Seizure, Leukodystrophy, Cognitive impairment, Left vent... |
ORPHA:444013 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... |
ORPHA:171876 |
Norrie Disease |
|
Clonus, Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Hypertonia, Uterine rupt... |
ORPHA:649 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles... |
ORPHA:1333 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Violent behavior, Broad-based gait, Cerebral atrophy, Gait ataxia, ... |
OMIM:280000 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Dandy-Walker malformation |
OMIM:302960 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Cryptorchidism, Dysplastic corp... |
OMIM:300967 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Short stature, Decreased response to growth hormone stimulation test, Proximal muscle weakness, P... |
OMIM:619234 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Scoliosis, Fail... |
ORPHA:420794 |
Monosomy 18Q |
|
Kyphoscoliosis, Bilateral cryptorchidism, Poor coordination, Choreoathetosis, Cerebellar hypoplas... |
ORPHA:1600 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure... |
ORPHA:447997 |
Familial Cerebral Saccular Aneurysm |
|
Hemiparesis, Seizure, Oculomotor nerve palsy, Abnormal brainstem morphology |
ORPHA:231160 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Decreased circulating antibody level,... |
ORPHA:29073 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Abnormal pyr... |
OMIM:614947 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Opitz Gbbb Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of the urinary system, Dysp... |
ORPHA:2745 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Incoordination, Decreased number of large peripheral myelinated nerve fi... |
OMIM:223900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Diastrophic Dysplasia |
|
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... |
ORPHA:628 |
Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Skin rash, Small for gestational age, Tremor, Cholecystitis |
ORPHA:69665 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology |
ORPHA:2522 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Trisomy 18 |
|
Hypertonia, Chiari malformation, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa... |
ORPHA:91500 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Decreased c... |
ORPHA:99867 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Hypospadias, Unilateral renal agenesis, Hydronephrosis, Dandy-Walker malforma... |
ORPHA:487796 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Leukopenia, ... |
ORPHA:77259 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Papilledema, Short neck, Kyphosis, Splenomegaly, Hepatosplenomegaly, Neurodegeneration |
OMIM:309900 |
Marden-Walker Syndrome |
|
Short neck, Kyphosis, Cryptorchidism, Cerebellar hypoplasia, Scoliosis, Inferior cerebellar vermi... |
OMIM:248700 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... |
OMIM:253010 |
Cholera |
|
Decreased urine output, Abnormality of renal excretion, Acute kidney injury |
ORPHA:173 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Facial hypotonia, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus... |
ORPHA:457284 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Truncal obe... |
OMIM:610475 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Cerebellar hypoplasia, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leuk... |
OMIM:613987 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Weaver Syndrome |
|
Delayed CNS myelination, Kyphosis, Cryptorchidism, Slurred speech, Poor fine motor coordination, ... |
OMIM:277590 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia |
ORPHA:3242 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hydronephrosis |
OMIM:235255 |
Frasier Syndrome |
|
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... |
ORPHA:347 |
Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon, Ganglioneuroma |
OMIM:613013 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:250989 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
ORPHA:79318 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Coffin-Lowry Syndrome |
|
Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco... |
ORPHA:192 |
Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Abnormal repetitive mannerisms, Oppositional defiant disord... |
ORPHA:580 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia |
ORPHA:90060 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Weight loss |
ORPHA:654 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Kyphosis, Decrease... |
ORPHA:79329 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... |
OMIM:619991 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration... |
ORPHA:642 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Cryptorchidism,... |
OMIM:614294 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Poor coordination, Optic atrophy, Scoliosis, Failure t... |
OMIM:610965 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:180870 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Weight loss, Cholestatic liver disease, Steatorrhea, Failure to thrive |
ORPHA:92050 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Delayed myelination, Athetosis, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Renal insufficiency, Oliguria, Dysphagia, Microscopic hematuria |
ORPHA:319213 |
Mungan Syndrome |
|
Gastroparesis, Hypoperistalsis, Vesicoureteral reflux, Renal hypoplasia, Abnormality of the auton... |
OMIM:611376 |
Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Hemifacial spasm, Ataxia, Tremor, Myocarditis, Tachypnea, Hyperkin... |
ORPHA:466677 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... |
ORPHA:227990 |
Diaphanospondylodysostosis |
|
Disproportionate short-trunk short stature, Horseshoe kidney, Cleft palate, Abnormal liver lobula... |
OMIM:608022 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Cryptorchidism, Blue irides, Lacrimal gland hypoplasia, Hypogonadism, Hete... |
OMIM:613266 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Optic atrophy, Seizure, Congenital contracture, Congenital muscular dystr... |
OMIM:236670 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hand tremor, Dysmetria, Gait ataxia, Hippocampal atrophy, High palate, Gastroesophageal reflux, A... |
OMIM:614756 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Craniofacioskeletal Syndrome |
|
Cerebellar hypoplasia, Hypospadias, Hydronephrosis |
OMIM:300712 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... |
ORPHA:100086 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Anorexia, Weight loss, Increased circulating cortisol level, Hepatic failure |
ORPHA:97287 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Attention deficit hyperactivity disorder,... |
OMIM:616580 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ketonuria, Ataxia, Moderate albuminuria, Weight loss, Renal tubular d... |
ORPHA:99885 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Hypoperistalsis, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, ... |
ORPHA:1018 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100080 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Overfriendliness, Recurrent urinary tract infections, Hypospadias, Fetal pyelecta... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Overfriendliness, Recurrent urinary tract infections, Hypospadias, Fetal pyelecta... |
ORPHA:363958 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, T lymphocytopen... |
OMIM:619313 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Optic atrophy, Spasticity, Demyelinating peripheral neuropathy |
ORPHA:220295 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Apert Syndrome |
|
Chiari type I malformation, Cerebellar hypoplasia, Hydronephrosis |
OMIM:101200 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Impaired pain sensation, Inability to walk, Bruxism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Impaired pain sensation, Inability to walk, Bruxism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
Nijmegen Breakage Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Neurodegeneration, Hydronephrosis |
OMIM:251260 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Failure to thrive |
ORPHA:583 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Cowden Syndrome 1 |
|
Dysplastic gangliocytoma of the cerebellum, Kyphosis, Decreased circulating antibody level, Hydro... |
OMIM:158350 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls |
OMIM:620351 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Macroglossia, Dysphagia, Mental deterioration, Achalasia |
ORPHA:79107 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Hypogonadism, Short neck |
ORPHA:2983 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Weismann-Netter Syndrome |
|
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Megacystis, Chronic constipatio... |
OMIM:619350 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t... |
ORPHA:2311 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Piebald Trait |
|
Aganglionic megacolon, Heterochromia iridis |
OMIM:172800 |
Tetrasomy 12P |
|
Cachexia, Short neck |
ORPHA:884 |
Eales Disease |
|
Optic disc pallor, Spastic paraparesis |
ORPHA:40923 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis, C... |
OMIM:617011 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Bilateral tonic-clonic seizure, Increased circulating androgen concentration, ... |
ORPHA:2976 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High, nar... |
OMIM:613406 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cerebellar hypoplasia, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Abnormality of the ki... |
ORPHA:90291 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Obesity, Scoliosis |
OMIM:618493 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Oliguria |
ORPHA:159 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Hypercholesterolemia, Scoliosis |
ORPHA:2479 |
Cardiofaciocutaneous Syndrome |
|
Cerebral cortical atrophy, Hydronephrosis |
ORPHA:1340 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Hypochromic microcyti... |
ORPHA:97283 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Ménétrier Disease |
|
Weight loss, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Impaired pain sensation, Kyphosis, C... |
OMIM:176270 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100082 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Gait disturbance, Hypogonadism, Scoliosis, Failure to thrive |
ORPHA:500055 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr... |
ORPHA:1578 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
White-Kernohan Syndrome |
|
Attention deficit hyperactivity disorder, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
Pineoblastoma |
|
Papilledema, Progressive neurologic deterioration, Paralysis, Memory impairment, Seizure, Cogniti... |
ORPHA:251909 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Hypospadias, Short stature, Sep... |
OMIM:300166 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Down Syndrome |
|
Aganglionic megacolon, Short stature, Protruding tongue, Brushfield spots, Duodenal stenosis, Mac... |
OMIM:190685 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thro... |
ORPHA:1855 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Tremor, Kyphosis, Pain insensitivity, Scoliosis |
OMIM:617061 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia ... |
OMIM:602535 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Achalasia |
ORPHA:2400 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia, Anemia, Anorexia |
OMIM:175500 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Delayed CNS myelination, Hepatomegaly, Impaired pain sensatio... |
OMIM:619005 |
Lafora Disease |
|
Ataxia, Inability to walk, Lafora bodies, Gait disturbance, Myoclonus, Brain atrophy, Erratic myo... |
ORPHA:501 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Early onset of sexu... |
OMIM:194050 |
Trisomy 8P |
|
Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Dandy-Walker malformation |
ORPHA:264450 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Wea... |
ORPHA:35125 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Kyphosis, Cryptorchidism, Colpocephaly, Increased mean corpuscular volume... |
ORPHA:261250 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Cerebral atrophy, Opisthotonus, Micropenis, Hydronep... |
OMIM:269150 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Short neck |
ORPHA:3082 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Chiari malformation |
ORPHA:1826 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Urinary retention, Weight loss |
ORPHA:2126 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility, Scoliosis |
ORPHA:2616 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Chiar... |
ORPHA:2789 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Small scrotum, Hypospadias, Short stature, Protruding tongue, Cryptorchidism, Paro... |
OMIM:309580 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Hyperlipidemia, Optic atrophy, Hematu... |
ORPHA:324 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Gait disturbance, Hydronephrosis |
OMIM:309350 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Kyphosis, Cryptorchidism, Abnormality of the gallbladder, Optic atrophy, A... |
ORPHA:280 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level, Weight loss |
ORPHA:723 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Weight loss, Anemia,... |
ORPHA:50918 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Dysphagia, Seizure, Chronic constipation, Gastroesophageal reflux, Difficul... |
OMIM:619482 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Scoliosis, Decreased testicular ... |
ORPHA:813 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:3121 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Oliguria, Hemiparesis, Acute kidney injury, Nephrotic range proteinuria, Decreased urine ... |
ORPHA:544482 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Involuntary movements, Inability to walk, Nephrol... |
ORPHA:438213 |
Dubowitz Syndrome |
|
Hypospadias, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:235 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Tetraparesis, Distal re... |
ORPHA:2785 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive |
ORPHA:476126 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Aggressive behavior, Celiac disease, Cryptorchidism, Glandular hyposp... |
OMIM:136140 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia |
OMIM:617190 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Paresthesia, Thr... |
ORPHA:71493 |
Idiopathic Trachyonychia |
|
Amyloidosis, Autoimmune thrombocytopenia |
ORPHA:79153 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney |
ORPHA:459061 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97278 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Kyphosis, Cryptorchidism, Increased body weight, Primary amenorrh... |
ORPHA:398069 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait ataxia, Cerebella... |
ORPHA:457359 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:33577 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Lower limb hypertonia, Gait imbalance, Dysphagia, Abnormal re... |
OMIM:616268 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Ab... |
ORPHA:800 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97282 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic kidney disea... |
OMIM:249100 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Abnormality of the d... |
OMIM:601992 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compr... |
OMIM:219090 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Renal hypoplasia, Gait ataxia, Com... |
OMIM:135900 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Primary hypercortisolism, Kyphosis, Increased circulating cortisol level, Truncal obesity |
OMIM:219080 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Diarrhea, Cru... |
ORPHA:324625 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Acanthocytosis, Intrahepatic cholestasis, Extra... |
ORPHA:97280 |
Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure |
ORPHA:90051 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Salt craving, Renal insufficiency, Anore... |
ORPHA:95409 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Agenesis of corpus callosum, Scoliosis |
ORPHA:261144 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Hyperthyroidism, Short stature, Periodic paralysis, Cleft palate, High palate, ... |
OMIM:170390 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Iron deficiency anemia, Atypica... |
ORPHA:100075 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Horseshoe kidney, Attention deficit hyperactivity disorder,... |
ORPHA:138 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Cerebral atrophy, Attention deficit hyperactivity d... |
ORPHA:2308 |
Periodic Fever, Familial, Autosomal Dominant |
|
AA amyloidosis, Hepatomegaly, Hepatic amyloidosis |
OMIM:142680 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Cerebral cortical atrophy, Weight loss |
ORPHA:37 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Cutaneous macular amyloidosis, Amyloidosis |
OMIM:615225 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Abeta Amyloidosis, Dutch Type |
|
Mental deterioration, Dementia, Cerebral amyloid angiopathy |
ORPHA:100006 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Ganglioneuroma, Ineffective ... |
OMIM:209880 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Renal dysplasia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, D... |
ORPHA:480880 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly |
OMIM:607015 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Chime Syndrome |
|
Hydronephrosis, Cerebral cortical atrophy, Abnormality of the kidney |
ORPHA:3474 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:404440 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Chops Syndrome |
|
Gastroparesis, Splenomegaly, Optic atrophy, Horseshoe kidney, Gastroesophageal reflux, Constipati... |
OMIM:616368 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Renal hypoplasia/aplasia, Abnormal renal morphology, Attention deficit hype... |
ORPHA:363700 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Immunodeficiency 77 |
|
Gastroparesis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,... |
ORPHA:268261 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Facial palsy, Scoliosis |
OMIM:617143 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hyperactivity, Horseshoe kidney, Inappropria... |
ORPHA:3310 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Noonan Syndrome 14 |
|
Short neck, Cryptorchidism, Kyphosis, Lateral ventricle dilatation, Lymphopenia |
OMIM:619745 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Incoordination, Hypospadias, Impulsivity, Self-mutilation, Poor coordination, Unst... |
OMIM:180849 |
Cohen Syndrome |
|
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Optic atrophy, Obesity, Scoliosis, Neutro... |
ORPHA:193 |
Cerebral Amyloid Angiopathy, App-Related |
|
Dementia, Paresthesia, Cerebral amyloid angiopathy |
OMIM:605714 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97261 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Cowden Syndrome 5 |
|
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, Cachexia, Acute leukemia, Pollakisuria, At... |
ORPHA:647 |
Colchicine Poisoning |
|
Renal insufficiency, Oliguria |
ORPHA:31824 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Somatic sensory dysfunction, Orthostatic hypotension, Ataxia, Dysphagia, Spasticity, Achalasia |
OMIM:615510 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Chiari malfo... |
OMIM:265380 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Scoliosis |
ORPHA:2075 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Delayed peripheral myelination, Cleft palate, Intrauterine growth retardation, M... |
ORPHA:364577 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Intestinal obstruction, Ataxia, Osteoarthritis, Flexion contracture,... |
ORPHA:666 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
Prader-Willi Syndrome |
|
Gastroparesis, Impaired temperature sensation, Polyphagia, Xerostomia, Seizure, Periodontitis, Vo... |
ORPHA:739 |
Mucolipidosis Type Ii |
|
Inability to walk, Kyphosis, Splenomegaly, Hepatosplenomegaly, Weight loss |
ORPHA:576 |
Cowden Syndrome 6 |
|
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Optic nerve compression, Hepatosplenomegaly, Distal ... |
OMIM:259730 |
Intermediate Uveitis |
|
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Short attention span, Confusion, Anorexia, Ependymoma, Insulinoma, Neph... |
ORPHA:652 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:217346 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Rigidity, Abnorma... |
ORPHA:2636 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Weight loss, Infertility, Anemia |
ORPHA:71273 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia, Steatorrhea |
ORPHA:3217 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Skeletal muscle atrophy, Gastroparesis, Myopathy |
ORPHA:1876 |
Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Ataxia, Oliguria |
ORPHA:466650 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Leukemia, Scoliosis, Cryptorchidism |
OMIM:619951 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Kyphosis, Cryptorchidism, Optic disc coloboma, Vertebral segmentation defect, Scolios... |
ORPHA:251014 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Gastroparesis, Impaired temperature sensation, Bulimia, Self-injurious behavior, Seizure, Abnorma... |
ORPHA:98793 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Emphysema |
ORPHA:90348 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness, Xerostomia, Impotence, Keratoconjunctivitis sicca, Abnormal... |
ORPHA:43393 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Gastroparesis, Impaired temperature sensation, Bulimia, Self-injurious behavior, Seizure, Abnorma... |
ORPHA:177904 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Dysesthesia, Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Gastroparesis, Impaired temperature sensation, Bulimia, Self-injurious behavior, Seizure, Abnorma... |
ORPHA:177901 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Spasticity, Cerebral atrophy, Platyspondyly, Spon... |
OMIM:208400 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Small cerebellar cortex, Nephrocalcinosis, Abn... |
ORPHA:79500 |
Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis, Cryptorchidism |
OMIM:617602 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Irregular menstruation |
OMIM:616482 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Primary testicular failure, Premature ov... |
ORPHA:85138 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Myoclonic Epilepsy Of Lafora |
|
Lafora bodies, Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Gastroparesis, Impaired temperature sensation, Bulimia, Self-injurious behavior, Seizure, Skin-pi... |
ORPHA:98754 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy, Achalasia |
OMIM:221350 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Delayed CNS myelination, Short neck, Kyphosis, Cryptorchidism, Hypertonia, Scoliosis, Agenesis of... |
OMIM:619194 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Peritonitis, Weight loss |
ORPHA:679 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Iron deficiency anemia, Hep... |
ORPHA:100078 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Lymphadenopathy, Weight loss, Abnormality of the cervical spine, Anemia |
ORPHA:85408 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Impaired temperature sen... |
ORPHA:536532 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Cutaneous amyloidosis, Failure to thrive in infancy |
OMIM:301220 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Cerebellar hypoplasia,... |
ORPHA:93271 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Optic ... |
OMIM:181000 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Hydronephrosis, Brain atrophy, Diffuse cerebral atrophy |
ORPHA:83617 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:2215 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Weight loss, Anorexia, Neutropenia |
ORPHA:79430 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Thrombocytopenia, Dysmetria, Anemia |
OMIM:620185 |
Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology, Abnormality of masseter muscle, Agenesis of ... |
ORPHA:314621 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Failure to thrive, Scoliosis, Tip-toe gait |
OMIM:618050 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Achalasia, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical vertebrae, Gait dis... |
OMIM:265000 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Rat-Bite Fever |
|
Back pain, Lymphadenitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
External ophthalmoplegia, Ophthalmoplegia, Gastroparesis |
OMIM:277320 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency, Steatorrhea |
ORPHA:309031 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Horseshoe kidney, Chiari malformation, Bifid ureter, Hydronephrosis |
OMIM:305600 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S... |
OMIM:619381 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Chiari malfor... |
ORPHA:955 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Weig... |
ORPHA:79078 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Dysphagia |
ORPHA:2363 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, T lymphocytopenia, Abnormal B cell mo... |
OMIM:618223 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hemiparesis, Hydronephrosis, Attention deficit hy... |
OMIM:188400 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Campomelic Dysplasia |
|
Hypospadias, Hydronephrosis |
OMIM:114290 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:1969 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cerebr... |
ORPHA:709 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss |
ORPHA:52417 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Vocal ... |
OMIM:164280 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Renal insufficiency, Weight loss |
ORPHA:764 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... |
ORPHA:3042 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Zollinger-Ellison Syndrome |
|
Jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol level, Neuroendoc... |
ORPHA:913 |
Classic Homocystinuria |
|
Hepatomegaly, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Scoliosis |
ORPHA:394 |
Monosomy 9Q22.3 |
|
Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral column, Chiari malf... |
ORPHA:77301 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Generalized-onset seizure, Gastroparesis, Optic nerve hypoplasia, Unilateral ... |
ORPHA:500150 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Postinfectious Vasculitis |
|
Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anore... |
ORPHA:48435 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastom... |
OMIM:312870 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive |
OMIM:239000 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Abnormal cerebellum morphology, Scoliosis, Failure to thrive |
ORPHA:201 |
Juvenile Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:93672 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis, Dandy-Walker malformation |
OMIM:236680 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Kyphosis, Cryptorchidism, Anemia, Azoospermia, Platyspondyly, Hyperaldosteronism, Scolios... |
ORPHA:534 |
Neurofibromatosis Type 1 |
|
Ataxia, Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Paresthesia, Pheochromocytoma, Sc... |
ORPHA:636 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Scoliosis |
ORPHA:109 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Charge Syndrome |
|
Renal agenesis, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Dysphagia, Micropenis, Hydro... |
OMIM:214800 |
Seckel Syndrome |
|
Cachexia, Scoliosis |
ORPHA:808 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis, Hypoperistalsis |
ORPHA:2241 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:616894 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Jaundice, Hepatitis, Cholestasis, Bladder dive... |
ORPHA:198 |
Stickler Syndrome |
|
Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral... |
ORPHA:828 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... |
OMIM:143095 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia |
OMIM:606170 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism |
OMIM:619718 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Cryptorch... |
OMIM:194190 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Agenesis of corpus callosum |
ORPHA:2658 |
Achondroplasia |
|
Brain stem compression |
OMIM:100800 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Renal hypoplasia, Cerebral atrophy, Hydronephrosis |
OMIM:261540 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
Reactive Arthritis |
|
Cognitive impairment, Weight loss |
ORPHA:29207 |
Somatomammotropinoma |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Imp... |
ORPHA:314769 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Limb Body Wall Complex |
|
Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Abnormality of the kidney, Abnorm... |
ORPHA:2369 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute kidney injury |
ORPHA:99829 |
Ramon Syndrome |
|
Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight |
OMIM:266270 |
Poland Syndrome |
|
Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, Vertebral segmentation defec... |
ORPHA:2911 |
Acromegaly |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Imp... |
ORPHA:963 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:881 |
Marfan Syndrome |
|
Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis |
ORPHA:558 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Anorexia, Phimosis, Urinary bladder inflammation, We... |
ORPHA:99921 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Kyphosis, Splenomegaly... |
ORPHA:744 |
Primrose Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Trunc... |
OMIM:259050 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Short neck, Bilateral cryptorchidism, Partial agenesis of the corpus ca... |
ORPHA:434179 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Abnormal central motor function, Kyphosis, Schwannoma, Glomus jugular ... |
ORPHA:97685 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypoperistalsis |
OMIM:613834 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Hydronephrosis |
OMIM:304120 |
Viss Syndrome |
|
Hydronephrosis, Dysphagia |
OMIM:619472 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Weight loss, Shuffling gait, Severe failure to thrive, Delayed menarche |
ORPHA:740 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Cryptorchidism, Platyspondyly, Scoliosis, Hypercholesterolemia, Failure to thrive |
OMIM:309000 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia |
ORPHA:79076 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Cardiospondylocarpofacial Syndrome |
|
Gastroparesis, Congenital diaphragmatic hernia, Vesicoureteral reflux, Horseshoe kidney, Gastroes... |
OMIM:157800 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
Johanson-Blizzard Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula |
OMIM:243800 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Coffin-Lowry Syndrome |
|
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Facial palsy, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis,... |
OMIM:113620 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Wrinkly Skin Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis, Cryptorchidism |
OMIM:278250 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Small for gestational age, Anterior concavity of thoracic vertebrae... |
OMIM:216340 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |