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Gene: Psap MGI:97783

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
prosaposin
Synonyms:
SGP-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Psap mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Psap by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence, Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, M... OMIM:249900
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... OMIM:611721
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Chorea, Progressive psychomotor deterioration, Progressive gait ataxia, Cho... ORPHA:309271
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Thrombocytopenia, I... OMIM:610539
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Death in infancy, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia ORPHA:139406
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Dystonia, Urinary incontinence, Decreased nerve conduction velocity, Babins... ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Urinary incontinence, Decreased nerve conduction velocity, Babinski sign, Optic atrophy... ORPHA:309256
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Peripheral axonal neuropathy, Hypertonia, Cerebral dysmyelination OMIM:611722
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436

The table below shows human diseases predicted to be associated to Psap by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Psap

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Psap.

No publications found that use IMPC mice or data for Psap.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Psaptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Psaptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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