banner
Genes Phenotypes Help, News, Blog

Gene: Zfyve26 MGI:1924767

Log in to follow

Gene Summary

Name:
zinc finger, FYVE domain containing 26
Synonyms:
9330197E15Rik,  LOC380767,  A630028O16Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal motor learning Zfyve26em1(IMPC)J HOM Early adult 7.22×10-05
decreased circulating calcium level Zfyve26em1(IMPC)J HOM   Early adult 1.11×10-05
abnormal lens morphology Zfyve26em1(IMPC)J HOM Early adult 7.77×10-05
increased vertical activity Zfyve26em1(IMPC)J HOM Early adult 7.67×10-05
abnormal sleep behavior Zfyve26em1(IMPC)J HOM Early adult 8.56×10-05
decreased mean corpuscular hemoglobin Zfyve26em1(IMPC)J HOM Early adult 6.43×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Sleep Wake

Wake state (bmp file)

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Eye Morphology

Images Slit Lamp

3 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

View images

Human diseases caused by Zfyve26 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 Zfyve26 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cereb... ORPHA:100996
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Urinary incontinence, Abnorm... OMIM:270700

The table below shows human diseases predicted to be associated to Zfyve26 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Episodic Ataxia, Type 1
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
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
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Hearing impairment, Gait ataxia ORPHA:217012
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, ... ORPHA:225154
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... ORPHA:2589
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Ataxia, Babinski sign, Functional abnormality of the bladder, Limb ataxia,... ORPHA:488594
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... OMIM:302800
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis OMIM:616155
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Kyphoscol... OMIM:214400
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Lacticaciduria, Falls, Tongue fasciculations, Scoliosis, Failure to ... OMIM:618811
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Urinary incontinence, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial ... OMIM:205100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neurona... OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment OMIM:165300
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment OMIM:614369
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Babi... OMIM:602099
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Urinar... ORPHA:314603
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Urinary urgency, Spasticity, Urinary ... ORPHA:100985
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Cachexia, Hea... ORPHA:300605
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Spastic Paraplegia 83, Autosomal Recessive
Babinski sign, Unsteady gait, Spastic paraplegia, Gait ataxia, Urinary urgency, Paresthesia OMIM:619027
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... ORPHA:101110
Spastic Paraplegia 8, Autosomal Dominant
Low back pain, Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticosp... OMIM:603563
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa... OMIM:607565
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Spastic Paraplegia 3, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticospinal tracts, Ba... OMIM:182600
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction OMIM:612577
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... ORPHA:88628
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A... OMIM:617225
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Pontocerebellar Hypoplasia Type 1
Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of ante... ORPHA:2254
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Spasticity OMIM:617892
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ... ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder, Ataxia, Parkinsonism, Babinski sign, Cerebral ... OMIM:615911
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... OMIM:607596
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder, Dysdiadochokinesis, Impaired vibr... ORPHA:101007
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Axonal degeneration, Babinski sig... OMIM:604168
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction, Limb ataxia, Gait ataxia ORPHA:284282
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... OMIM:600363
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Ur... OMIM:607259
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Camos Syndrome
Renal insufficiency, Ataxia, Optic atrophy, Spasticity, Nephrotic syndrome, Brain atrophy, Aplasi... ORPHA:83472
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoc... OMIM:159950
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Neurogenic ... ORPHA:276244
Spastic Paraplegia 27, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder, Impaired v... OMIM:609041
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Spinal Muscular Atrophy, Type Iii
Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los... OMIM:253400
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Urinary incontinence, Babinski sign, Impaired vibrat... OMIM:604187
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... ORPHA:100989
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... ORPHA:90103
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Hearing i... ORPHA:401830
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Ky... OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Axonal degeneration OMIM:618138
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Ba... OMIM:612319
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Spastic Paraplegia 31, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Distal sensory impairment, Ankle clonus... OMIM:610250
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Urinary in... OMIM:604360
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic gait, Spastic... OMIM:609195
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor OMIM:253550
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Impaired vibra... ORPHA:99013
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... ORPHA:100994
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Facial palsy, Cryptorchidism, Degeneration of anterior horn cells, Tongue fasciculat... OMIM:301830
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticosp... OMIM:182601
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary u... OMIM:611390
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Autosomal Spastic Paraplegia Type 72
Postural tremor, Rigidity, Urinary bladder sphincter dysfunction, Spastic gait, Impaired vibratio... ORPHA:401849
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Dysmetria, Limb ataxia, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Urinary incontinence, Axonal degenerat... OMIM:604320
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticospinal tracts, Pr... ORPHA:444099
Spastic Paraplegia 12, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:604805
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Spastic Paraplegia 19, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:607152
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Impa... ORPHA:137898
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... OMIM:616795
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Spastic paraplegia, Spastic gait OMIM:613364
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Trunc... ORPHA:363710
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Cognitive impairment ORPHA:172
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... OMIM:616291
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Diaminopentanuria
Ataxia, Cystinuria, Hyperlysinuria, Neurodegeneration, Spasticity OMIM:222350
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of the bladder, Spastic dysarthria, Ga... ORPHA:247604
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Spastic Paraplegia 37, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:611945
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610743
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Urinary inc... OMIM:607136
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Spastic Paraplegia 13, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:605280
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Urinary incontinence, Atrophy/Degeneration involving t... ORPHA:139399
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spinocerebellar Ataxia 25
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain... OMIM:608703
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Inability to walk... OMIM:128100
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper lim... ORPHA:320391
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Myoclonus, U... ORPHA:306511
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Autoimmune Hypoparathyroidism
Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spinocerebellar Ataxia 2
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... OMIM:183090
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Tongue fasciculations, Waddling gait, Hand tremor OMIM:271150
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Nephrocalcinosis, Difficulty walking, Slender build OMIM:611087
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Gait ataxia... OMIM:213200
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Peripheral axonal neuropathy, Urinary incontinence, Spastic paraplegia, Dista... OMIM:263570
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Frequent falls, Axonal degeneration, Diaphragmatic paralysis OMIM:620011
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Chronic axonal neuropath... ORPHA:88644
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... OMIM:603516
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Hearing impairment, Limb dystonia OMIM:620270
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Delayed peripheral myelinatio... ORPHA:464282
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante... OMIM:611890
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Urinary bladder sphinc... ORPHA:231445
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... ORPHA:100993
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Functional abnormality of the bladder, Paraplegia, Neuronal loss in ... ORPHA:71211
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... OMIM:606353
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Urinary incontinence, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturb... OMIM:221770
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spastic Paraplegia 36, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:613096
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Reduction of oligodendroglia, Head titubation, Tremor, Inability to wal... OMIM:312080
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... OMIM:617435
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait ... OMIM:221820
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atro... OMIM:278800
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cereb... ORPHA:100996
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Distal sensory impairment, Gait disturbance, Brain atrophy, Scoliosis, Loss... OMIM:615284
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hepatomegaly, Failure to thrive, Ataxia, Aciduria, Paralysis, Cerebral cortic... OMIM:203700
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Urinary incontinence, Impaired distal vibrati... ORPHA:98768
Foix-Alajouanine Syndrome
Back pain, Low back pain, Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dys... ORPHA:79093
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Spastic Paraplegia 84, Autosomal Recessive
Impaired vibratory sensation, Babinski sign, Hoffmann sign, Spastic paraplegia, Ankle clonus, Uri... OMIM:619621
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Tetraplegia ORPHA:100997
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... ORPHA:458803
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Hearing impairment ORPHA:101075
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Babins... OMIM:275900
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Urinary urge... OMIM:618418
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Urinary incontinence, Babinski sign, Spastic paraplegia, ... OMIM:607225
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Baralle-Macken Syndrome
Urinary incontinence, Inability to walk, Kyphosis, Obesity, Spasticity, Global brain atrophy OMIM:619255
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis OMIM:611067
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, ... OMIM:618124
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Sp... ORPHA:363722
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spinocerebellar Ataxia 1
Chorea, Impaired proprioception, Dysmetria, Dorsal column degeneration, Spinocerebellar atrophy, ... OMIM:164400
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... ORPHA:139485
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Friedreich Ataxia
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Optic atrophy, Dysmetria, Gait... ORPHA:95
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Urinary incontinence, Impaired temperature sensation, Impaired distal prop... ORPHA:320365
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany OMIM:612462
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ... ORPHA:48431
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scol... OMIM:615157
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Unsteady gait, Distal sensory impairment, Difficulty walking, Voca... ORPHA:600
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior be... OMIM:230650
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Hearing impairment ORPHA:101078
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis ORPHA:85317
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Corpus... OMIM:601162
Urocanase Deficiency
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Urin... ORPHA:320355
Autosomal Dominant Spastic Paraplegia Type 10
Lower limb spasticity, Peripheral axonal neuropathy, Parkinsonism, Spastic paraparetic gait, Impa... ORPHA:100991
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormal cerebellar ped... ORPHA:909
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Spinocerebellar Ataxia 27B, Late-Onset
Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Kyphoscoliosis, Cryptorchidism, Degeneration of anterior ... ORPHA:1145
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... ORPHA:98761
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Urinary incontinence, Corpus ... ORPHA:447753
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Urinary incontinence, Chorea, Babinski sign, Gait ataxia, Titubatio... ORPHA:225147
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di... ORPHA:478029
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Dysmetria, Enuresis nocturna, Oculomotor apraxia, Cerebellar atrophy, Spast... ORPHA:171629
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gait d... ORPHA:216866
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ... ORPHA:99014
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal sensory impairment,... OMIM:606070
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Urinary incontinence, Abnorm... OMIM:270700
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babin... OMIM:616586
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred sp... ORPHA:98772
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Global brai... OMIM:616811
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Abnorma... ORPHA:702
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... OMIM:617404
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Spinal cana... ORPHA:1320
Adult Polyglucosan Body Disease
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Distal sensory impairm... ORPHA:206583
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, Paraplegia, Sh... OMIM:303350
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign, Spastic gait, Tetraplegi... ORPHA:447760
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... ORPHA:319199
Cockayne Syndrome Type 3
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Peripheral axonal neurop... ORPHA:90324
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Incoordination, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Hemi... OMIM:601338
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
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
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Spinocerebellar Ataxia Type 36
Ataxia, Hearing impairment, Vertigo, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ... ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Cerebral atrophy, Titubation OMIM:619405
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Gait at... ORPHA:98771
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Hypertonia, Spasticity, Hearing impairment OMIM:609260
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Superficial Siderosis
Back pain, Impaired temperature sensation, Functional abnormality of the bladder, Abnormal pyrami... ORPHA:247245
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Failure to thrive OMIM:618237
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Ane Syndrome
Motor neuron atrophy, Kyphoscoliosis ORPHA:157954
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spastic Paraplegia 89, Autosomal Recessive
Spastic paraplegia, Ataxia, Functional abnormality of the bladder OMIM:620379
Adamantinoma
Hypercalcemia ORPHA:55881
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gait disturbance, Myoclonu... OMIM:168601
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Ataxia, Urinary incontinence, Rigidity, Babinski sign, Abnormal pyramidal sign, Ga... OMIM:600142
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Adrenoleukodystrophy
Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxi... OMIM:300100
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
X-Linked Agammaglobulinemia
Anemia, Conjunctivitis, Hypocalcemia, Neutropenia, Thrombocytopenia ORPHA:47
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Spastic Paraplegia 16, X-Linked
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Tetraplegia, Urin... OMIM:300266
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Failure to... OMIM:248800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Rigidity, Splenomegaly, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor... ORPHA:309854
Cystathioninuria
Tremor, External ear malformation ORPHA:212
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Cerebral atrophy, Methylmalonic aciduria, Abnormal posturing, Failure to thrive, ... OMIM:614857
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Left ventricular hypertrophy, Optic... ORPHA:228346
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Renal salt wasting, Renal magnesium was... ORPHA:199343
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Inappropriate laughter, Difficulty walking, Cognitive impairment, Mental deterioration, H... OMIM:618476
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic paraparesis, Hearing impairment ORPHA:391417
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Small for gestational age, Functional abnormality of the bladder OMIM:300076
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Urocanic Aciduria
Action tremor, Ataxia, Truncal ataxia, Gait ataxia ORPHA:210128
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Hyperlordosis, Inability to walk, Astrocytosis, Pontocerebellar atrophy, Scoliosis,... ORPHA:258
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Cdkl5-Deficiency Disorder
Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis ORPHA:505652
Xq28 (MECP2) duplication
Inability to walk, Functional abnormality of the bladder, Gait ataxia, Progressive spasticity, Fa... DECIPHER:45
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing... OMIM:304700
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spas... OMIM:609541
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Leukocytosis, H... ORPHA:94093
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Spastic Paraplegia Type 2
Ataxia, Babinski sign, Spastic/hyperactive bladder, Optic atrophy, Abnormality of extrapyramidal ... ORPHA:99015
Secondary Syringomyelia
Back pain, Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysur... ORPHA:99857
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Atypical Rett Syndrome
Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Limb myoclon... ORPHA:3095
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Developmental cataract, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy ORPHA:2047
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Macrotia OMIM:616269
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
Perineural Cyst
Abnormal thoracic spine morphology, Low back pain, Somatic sensory dysfunction, Recurrent urinary... ORPHA:65250
Pseudohypoparathyroidism Type 1C
Calcinosis, Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic te... ORPHA:79444
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Urinary u... OMIM:168600
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Inability to walk, Hypokalemia, Hypocalcemia, D... OMIM:617913
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Developmental cataract OMIM:618440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:264700
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Enuresis, Failure to thrive in infancy, Obesity OMIM:613670
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Failure to thrive, Tremor, Kyphosis, Inability to walk... OMIM:617988
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia OMIM:619911
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Abdominal obesity, Micropenis, Decrea... OMIM:300354
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Clonus, Urinary incontinence, Babinski sign,... OMIM:609727
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Alg1-Cdg
Cerebellar atrophy, Renal insufficiency, Abnormality of the kidney, Kyphosis, Cerebral atrophy, N... ORPHA:79327
Pseudohypoparathyroidism Type 1A
Calcinosis, Cataract, Confusion, Band keratopathy, Choreoathetosis, Hyperphosphatemia, Conjunctiv... ORPHA:79443
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Obesity, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cer... OMIM:301900
Arachnoid Cyst
Back pain, Urinary incontinence, Cranial nerve compression, Holoprosencephaly, Urinary bladder sp... ORPHA:2356
Multiple Sclerosis, Susceptibility To
Incoordination, Urinary incontinence, Paresthesia, Spasticity, Urinary hesitancy OMIM:126200
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, ... ORPHA:93256
Rett Syndrome
Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, Cerebral co... OMIM:312750
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Gait disturbance, Decreased testicular size ORPHA:1875
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Kyphosis, Cryptorchidism, Cerebral atrophy, Scoliosis, Hydronephrosis OMIM:619797
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
X-Linked Immunoneurologic Disorder
Hemiplegia/hemiparesis, Hypertonia, Functional abnormality of the bladder ORPHA:2571
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Difficulty walking, Urinary bladder s... ORPHA:320401
Kanzaki Disease
Peripheral axonal neuropathy, Increased urinary O-linked sialopeptides, Axonal degeneration, Cere... OMIM:609242
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis OMIM:212750
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... ORPHA:420492
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Oculomotor apraxia OMIM:614867
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady... ORPHA:411602
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Abnormal cerebellum morphology,... ORPHA:324737
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar... OMIM:146500
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... ORPHA:280210
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Sneddon Syndrome
Tremor, Chorea, Vertigo, Hemiparesis ORPHA:820
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... ORPHA:573278
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cataract, Hyperphosphatemia, Cognitive impairment OMIM:103580
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Neurogenic bladder, Weakness due to upper motor neuron dysfunction, Urinar... ORPHA:466722
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cataract, Ataxia, Thrombocytopenia, Splenomegaly, Hypomagnesemia, ... ORPHA:699
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Kyphosis, Increased urinary O-l... ORPHA:812
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Spinal a... ORPHA:53721
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dys... OMIM:608776
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Low-set ears, Spastic paraplegia ORPHA:477673
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Oculopharyngodistal Myopathy 3
Tremor, Conductive hearing impairment, Sensorineural hearing impairment, Ataxia OMIM:619473
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Kyphosis, Splenomegaly, Nephropathy ORPHA:87876
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:614831
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Distal Deletion 10Q
Failure to thrive, Lumbar hyperlordosis, Ataxia, Clonus, Unsteady gait, Functional abnormality of... ORPHA:96148
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inabi... OMIM:618443
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Urinary urgency OMIM:618878
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Confusion, Elevated circulating creatinine co... ORPHA:36234
Fatal Familial Insomnia
Ataxia, Weight loss, Urinary retention, Myoclonus, Neuronal loss in central nervous system OMIM:600072
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Facial palsy, Short neck, Kyphosis, Inability to walk, Brain atrophy, Scoli... OMIM:301041
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h... OMIM:619092
Timothy Syndrome
Hypocalcemia OMIM:601005
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia ORPHA:289157
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hyperlordosis, Kyphosis, Cryptorchidism, Obesity, Decreased testicular size ORPHA:3085
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Hypocalci... OMIM:612780
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Facial palsy, Kyphosis, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness,... OMIM:211530
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Isolated Posterior Meningocele
Tethered cord, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegi... ORPHA:268810
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Tip-toe... OMIM:607155
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Cerebellar atrophy, Decreased mitochondrial number, Spinal rigidi... ORPHA:352447
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Ethylene Glycol Poisoning
Ataxia, Confusion, Hyperkalemia, Addictive alcohol use, Hypocalcemia ORPHA:31826
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Cerebral atrophy OMIM:300337
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Progressive psychomotor deterioration, Increased blood urea nitrogen, Episodic hem... ORPHA:251004
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Kyphosis, Cryptorchidism, Hypertonia, Scoliosis, Spast... ORPHA:352490
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Spasticity, Urinary urgency, Cerebral atrophy OMIM:619286
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Hemiplegia ORPHA:2181
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia OMIM:239200
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Neurogenic bladder, Paralysis, Paraparesis, Progress... ORPHA:43
Nipah Virus Disease
Tremor, Vertigo, Myoclonus ORPHA:99825
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Hypocalcemia ORPHA:746
Behr Syndrome
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls OMIM:210000
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... ORPHA:466650
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Tenorio Syndrome
Cerebral palsy, Hydrocephalus, Clumsiness, Enuresis, Gait disturbance, Scoliosis, Cerebral cortic... OMIM:616260
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity OMIM:607694
Mucopolysaccharidosis, Type Iva
Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the... OMIM:253000
Migraine, Familial Hemiplegic, 2
Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Winchester Syndrome
Kyphosis OMIM:277950
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis, Hepatomegaly OMIM:618234
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive... ORPHA:2115
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Dementia, Ataxia, Narcolepsy OMIM:604121
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis OMIM:615834
Velocardiofacial Syndrome
Posterior embryotoxon, Hypocalcemia, Aggressive behavior OMIM:192430
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis OMIM:615084
Myopathy, Centronuclear, 2
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:255200
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia OMIM:241500
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Dilatation of the ... OMIM:619708
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Kyphosis, Cryptorchidism, Babinski sign, Microp... ORPHA:364028
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Slurred sp... ORPHA:206443
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Cognitive impairment, Neutropenia ORPHA:175
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Ataxia, Hearing impairment, Intention tremor OMIM:117300
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Mi... OMIM:615547
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Abnormality of the ure... ORPHA:2522
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperact... ORPHA:476126
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scoliosis, Apraxia, Oculomot... OMIM:314580
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia,... OMIM:212065
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive ORPHA:536516
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Ataxia, Narcolepsy, Mental deterioration, Memory impairment ORPHA:314404
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Distal sensory impairment, ... OMIM:181405
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Pa... OMIM:105210
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Urinary incontinence, Facial palsy, Spinal rigidity, Enuresis nocturna, Tho... OMIM:617114
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Hypertonia, Abnor... OMIM:230500
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Emanuel Syndrome
Sacral dimple, Torticollis, Recurrent urinary tract infections, Unilateral renal agenesis, Kyphos... OMIM:609029
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... ORPHA:97349
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly... ORPHA:98863
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysmetria, S... OMIM:618527
Gm1 Gangliosidosis
Ataxia, Hyperlordosis, Tremor, Kyphosis, Splenomegaly, Unsteady gait, Optic atrophy, Abnormal for... ORPHA:354
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls ORPHA:75840
Metatropic Dysplasia
Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ... OMIM:156530
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... OMIM:253010
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis OMIM:618484
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Obesity... ORPHA:261222
Micro Syndrome
Hypoplasia of penis, Cerebellar vermis hypoplasia, Kyphosis, Cryptorchidism, Abnormal cerebellum ... ORPHA:2510
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Cerebellar hypoplasia, Scoliosis, Spina bi... OMIM:618291
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Kyphoscoliosis, Cardiomegaly, Kyphosis, Difficulty walking, Scoliosis, Left ventri... OMIM:300280
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Cockayne Syndrome Type 2
Lower limb spasticity, Hepatomegaly, Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Scoliosi... ORPHA:90322
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Tip-toe gait, Gait d... ORPHA:98855
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Anorexia, Hypercalcemia, Hyperk... ORPHA:199299
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Peripheral axonal neuropathy, Ataxia, Faci... ORPHA:254892
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis, Cryptorchidism ORPHA:2471
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... ORPHA:93314
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ... ORPHA:2635
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity... ORPHA:98853
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... ORPHA:2785
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney OMIM:618272
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93325
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Gitelman Syndrome
Salt craving, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia,... ORPHA:358
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion... OMIM:253220
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia ORPHA:163979
Mucopolysaccharidosis, Type Ii
Papilledema, Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Kyphosis, Hydrocephalu... OMIM:309900
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Cryptorchidism, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
22Q11.2 Deletion Syndrome
Cataract, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Attention deficit hyperactivity d... ORPHA:567
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
15Q24 Microdeletion Syndrome
Small for gestational age, Hypospadias, Kyphosis, Cryptorchidism, Myelomeningocele, Obesity, Micr... ORPHA:94065
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegi... ORPHA:171436
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia ORPHA:544482
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Distal sensory impairment, Urinary urgency, Scoliosis, Vocal cord paresis OMIM:606071
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegal... ORPHA:191
Pandas
Enuresis, Chorea, Clumsiness ORPHA:66624
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Kyphosis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:615433
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Alexander Disease
Ataxia, Clonus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyram... ORPHA:58
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Bilateral sensorineural hearing impairment ORPHA:397744
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis ORPHA:3454
Central Diabetes Insipidus
Failure to thrive, Nocturia, Weight loss ORPHA:178029
Trisomy 20P
Incoordination, Hypospadias, Abnormality of the kidney, Spina bifida, Short neck, Kyphosis, Crypt... ORPHA:261318
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Obesity, Poor fine motor coordination, Enuresis, Scoliosis, Decreased body weight ORPHA:589821
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Menin... ORPHA:2311
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Short neck, Tremor, Kyph... OMIM:300966
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Tethered cord, Short neck, Kyphosis, Cryptorchidism, Hydroc... OMIM:130720
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Sandifer Syndrome
Abnormal posturing, Torticollis, Decreased cervical spine mobility ORPHA:71272
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Kyphosis, Hydrocephalus, Dilatation of the ... ORPHA:314588
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Kyphoscoliosis, Dysesthesia, Cryptorchidism, Functional abnormality of the bla... ORPHA:2953
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Abnormality of the ureter, Obesity ORPHA:3409
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Mucopolysacch... ORPHA:349
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Limb hypertonia, Fasciculations, Hearing impairment OMIM:620327
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Cerebellar hypoplasia, Scoliosis ORPHA:238750
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Kyphosis, Splenomegaly, Unsteady gait, Cerebral atrophy, Spasticity, F... OMIM:615512
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Hyperlordosis, Large for gestational age, Kyphos... OMIM:617011
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Thrombo... OMIM:619991
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased c... ORPHA:95409
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Hypospadias, Hypoplasia of the pons, Cryptorchidism, Enuresis... OMIM:619293
Trisomy 13
Kyphosis, Cryptorchidism, Abnormality of the ureter, Optic atrophy, Chiari malformation, Multiple... ORPHA:3378
Acute Transverse Myelitis
Back pain, Impaired vibratory sensation, Somatic sensory dysfunction, Urinary incontinence, Dyses... ORPHA:139417
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia ORPHA:667
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Hurler Syndrome
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process,... OMIM:607014
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Attention d... OMIM:188400
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Gitelman Syndrome
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Paresthesia, Hypocalciuria, Failu... OMIM:263800
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168605
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyp... ORPHA:457359
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Small for gestational age, Hypospadias, Unilateral renal agenesis, Kyphosis, C... ORPHA:464311
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Multicystic kidney dysplasia, Facial palsy, Optic nerve hypoplasia, Kyphos... ORPHA:261349
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hypoplasia of penis, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Scoliosis... ORPHA:85293
Hennekam Syndrome
Splenomegaly, Lymphopenia, Hypocalcemia ORPHA:2136
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction, Paresthesia ORPHA:137817
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am... ORPHA:85450
3C Syndrome
Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Optic atrop... ORPHA:7
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Acquired Methemoglobinemia
Methemoglobinemia, Confusion ORPHA:464453
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,... ORPHA:582
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Acute Intermittent Porphyria
Back pain, Dark urine, Somatic sensory dysfunction, Renal insufficiency, Urinary incontinence, Dy... ORPHA:79276
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly ORPHA:93274
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Meningocele, Abnormal form of the vertebral ... ORPHA:2789
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Scoliosis ORPHA:61
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Ataxia, Cerebellar calcifications, Small for gestational age, ... OMIM:133540
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Cerebral atrophy, Scoliosis, Spasticity, Hydronephrosis OMIM:616449
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Optic a... OMIM:617527
Marden-Walker Syndrome
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Renal hypoplasia, Micropenis, Cerebellar hypop... OMIM:248700
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomegal... ORPHA:1328
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Thanatophoric Dysplasia
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platysp... ORPHA:2655
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Cryptorchidism, Hydrocephalus, Gait disturbance, Scoliosis, Micropenis, Fai... ORPHA:500055
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Broad-based gait, Impulsivity, Hypomagnesemia, Bruxism, Hepatosplenomegaly, Tip... OMIM:619503
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Abnormal peripheral m... OMIM:216400
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetraplegia, Cerebellar h... OMIM:619909
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Narcolepsy 3
Narcolepsy OMIM:609039
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Coffin-Lowry Syndrome
Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco... ORPHA:192
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Small for gestational age, Hypospadias, Unilateral renal agenesis, Kyphosis, C... ORPHA:464306
Addison Disease
Normocytic anemia, Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Thiamine-responsive megal... ORPHA:85138
Vici Syndrome
Cerebellar vermis hypoplasia, Left ventricular hypertrophy, Abnormal posturing, Failure to thrive... OMIM:242840
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Hypoplasia of penis, Spina bifida occulta, Short neck ORPHA:2983
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... OMIM:606002
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Progressive spastic quadriplegia... ORPHA:521426
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Cerebral at... OMIM:301040
19P13.12 Microdeletion Syndrome
Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Short neck, Cryptorchidism, Kyphosis, O... ORPHA:254346
Congenital Myopathy 22A, Classic
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scol... OMIM:620351
Arthrogryposis, Distal, Type 5
Kyphosis, Hypertonia, Scoliosis OMIM:108145
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Neurogenic bladder, My... OMIM:600145
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Inability to walk, Kyphosis, Cerebral atrophy, Male urethral meatus stenosis, Diffic... ORPHA:464738
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Obesity, Scoliosis OMIM:618493
Crisponi Syndrome
Kyphosis, Hypertonia, Scoliosis ORPHA:1545
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Obesity, Scoliosis, Short neck ORPHA:3191
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Micropenis, Intention ... OMIM:619475
Narcolepsy 1
Narcolepsy OMIM:161400
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
7Q11.23 Microduplication Syndrome
Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Cryptorchidism, Hydrocephalus,... ORPHA:96121
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
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
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Obesity, Thoracolumbar kyph... ORPHA:15
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Abnormal localization of kidney, Hematuria, Scoliosis, Abnormal vertebr... ORPHA:3121
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Kyphosis, Cerebral atrophy, Cryptorchidism OMIM:619244
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Bone-marrow foam cells, Spleno... ORPHA:646
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis OMIM:619040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Kyphosis, Cryptorchidism, Hydrocephalus, Scoliosis, Vesicoureteral ref... OMIM:619951
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Abnormality of the kidney, Hydrocephalus, Enuresis, Tubulointerstit... ORPHA:459061
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Mucopolysacchariduria, Failure to thrive ORPHA:583
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Ataxia, Hypospadias, Abnormality of the kidney, Kyphosis, Cryptorch... ORPHA:280
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
Koolen-De Vries Syndrome
Vertebral fusion, Ureteral duplication, Hypospadias, Kyphosis, Cryptorchidism, Vertebral segmenta... ORPHA:96169
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:180870
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive OMIM:169400
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Narcolepsy 7
Narcolepsy OMIM:614250
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hyperlordosis, Renal hypoplasia/aplasia, Cryptorchidism, Kyphosis, Opti... ORPHA:568
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Hydrocephalus, Scoliosis ORPHA:2075
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal OMIM:253310
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Abnormality of the upper urinary tract, Kyphosis, Hemivertebrae, Abnormal form ... ORPHA:2916
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia ORPHA:249
Marshall-Smith Syndrome
Thoracic scoliosis, Failure to thrive, Optic nerve hypoplasia, Kyphoscoliosis, Bilateral cryptorc... OMIM:602535
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Small for gestational age, K... OMIM:610443
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Charge Syndrome
Cataract, Hypocalcemia, Dysphagia, Iris coloboma, Lymphopenia, Self-mutilation OMIM:214800
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Shashi-Pena Syndrome
Unilateral renal agenesis, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia OMIM:617190
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Chiari malformation, Spondylolysis, Scol... ORPHA:763
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Kyphosis, Pain insensitivity, Scoliosis OMIM:617061
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Astigmatism, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Ab... ORPHA:800
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Hurler-Scheie Syndrome
Hepatomegaly, Heparan sulfate excretion in urine, Kyphosis, Splenomegaly, Dermatan sulfate excret... OMIM:607015
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Koolen-De Vries Syndrome Due To A Point Mutation
Fetal pyelectasis, Chiari type I malformation, Vesicoureteral reflux, Renal duplication, Hypospad... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fetal pyelectasis, Chiari type I malformation, Vesicoureteral reflux, Renal duplication, Hypospad... ORPHA:363958
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Mgat2-Cdg
Kyphosis, Cerebellar hypoplasia, Brain atrophy, Scoliosis, Failure to thrive ORPHA:79329
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Nephrolithiasis, Abdominal obesity, Biconcave vertebral bodies, Vertebral comp... OMIM:219090
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Kyphosis, Scoliosis, Cryptorchidism OMIM:615381
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Kyphosis, Tubulointerstitial nephritis, Truncal obesity, Scoli... OMIM:203800
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platysp... ORPHA:1860
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Hydrocephalus, Platyspondyly OMIM:616482
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Spondyloenchondrodysplasia
Proteinuria, Kyphosis, Chorea, Chronic kidney disease, Hematuria, Platyspondyly, Spasticity ORPHA:1855
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Glucagonoma
Normochromic anemia, Hypercalcemia, Anorexia, Acanthocytosis ORPHA:97280
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... OMIM:234200
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Pheoch... OMIM:162300
Prader-Willi Syndrome
Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Cryptorchidism, Poor gross motor... OMIM:176270
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Neph... ORPHA:904
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Cryptorchidism, Kyphosis, Increased body weight, Abdominal obesit... ORPHA:398069
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive OMIM:617602
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Impaired pain sensation, Cryptorchidism, Kyphosis, Scoliosis, Decreased body weight... OMIM:619005
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Kyphosis, Abnormal spinal cord morphology, Cryptorch... ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Cardiomegaly, Tremor, Kyphosis, Cryptorchidism, Cerebella... OMIM:300967
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia, Anorexia ORPHA:97283
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy ORPHA:69076
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Hydr... ORPHA:666
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Hydrocephalus OMIM:603387
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Facial palsy, Scoliosis OMIM:617143
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Kyphosis, Hypercalciuria, Hydroxyprolinuria, Failure to ... OMIM:239000
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus,... ORPHA:955
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:404440
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Cryptorchidism, Optic disc coloboma, Vertebral segmentation defect, Scolios... ORPHA:251014
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Abnormal hemoglobin, Anemia ORPHA:847
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Involuntary movements, Kyphoscoliosis, Ectopic kidney, Inability to walk, Kyphosis, ... ORPHA:3063
Cowden Syndrome
Abnormal penis morphology, Ataxia, Abnormality of the kidney, Enlarged polycystic ovaries, Kyphos... ORPHA:201
Weaver Syndrome
Kyphosis, Cryptorchidism, Slurred speech, Poor fine motor coordination, Hydrocele testis, Hyperto... OMIM:277590
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical verteb... OMIM:265000
Citrullinemia Type Ii
Tremor, Enuresis, Decreased body mass index, Hepatomegaly ORPHA:247585
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Cerebral atrophy, Spasticity, Platyspondyly, Spon... OMIM:208400
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Acro-Renal-Mandibular Syndrome
Short neck, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyperkalemia, Self-injurious behav... ORPHA:293987
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... OMIM:203500
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Failure to thrive, Tip-toe gait, Scoliosis OMIM:618050
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Malakoplakia
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary... ORPHA:556
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hydrocephalus OMIM:616294
Cowden Syndrome 1
Dysplastic gangliocytoma of the cerebellum, Kyphosis, Hydrocele testis, Scoliosis, Intention tremor OMIM:158350
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Kyphosis, Hemiplegia/hemiparesis, Cr... ORPHA:1606
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Hydrocephalus, Hypertonia, Crossed fused renal ectopia, ... OMIM:300960
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Optic atrophy, Obesity, Scoliosis ORPHA:193
Cole-Carpenter Syndrome
Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Monosomy 9Q22.3
Large for gestational age, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral colu... ORPHA:77301
Neurofibromatosis Type 1
Astrocytoma, Ataxia, Abnormality of the upper urinary tract, Kyphosis, Cryptorchidism, Hydrocepha... ORPHA:636
Sarcoidosis
Hemolytic anemia, Cataract, Eosinophilia, Hypercalcemia, Thrombocytopenia, Increased T cell count... ORPHA:797
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Kyphosis, Splenomegaly, Hematuria, Vertebral compression fracture ORPHA:77259
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor OMIM:615108
Poland Syndrome
Duplicated collecting system, Encephalocele, Hypospadias, Short neck, Renal hypoplasia/aplasia, K... ORPHA:2911
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Obesity, Hemiparesis, Enuresis, Failure to thrive ORPHA:369950
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Williams-Beuren Syndrome
Vocal cord paralysis, Chiari type I malformation, Nephrocalcinosis, Vesicoureteral reflux, Microp... OMIM:194050
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splenomegaly, Conjunctiv... OMIM:243800
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Kyphosis, Truncal obesity OMIM:610489
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor OMIM:615109
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short neck, Renal hypoplasia/apla... ORPHA:818
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Kyphosis, Cryptor... ORPHA:2273
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis, Cryptorchidism ORPHA:261250
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Hydronephrosis ORPHA:140
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Kyphosis, Hemivertebrae, Optic atrophy, Horseshoe kidney, Ce... OMIM:617140
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Vesicoureteral reflux, Micropenis OMIM:616894
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Hydrocephalus, Dural ectasia OMIM:616914
African Trypanosomiasis
Akinesia, Aggressive behavior, Keratitis, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Choreoath... ORPHA:3385
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2215
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Hypercalciuria, Proteinuria, Clonus, Kyphosis, Cryptorchidis... ORPHA:534
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Multiple Endocrine Neoplasia Type 1
Short attention span, Hypercalcemia, Confusion, Anorexia ORPHA:652
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregul... ORPHA:3042
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hypocalcemic seizures, Anemia OMIM:612301
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria OMIM:620185
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Urinary incontinence, Scoliosis OMIM:619482
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis, Cryp... ORPHA:536532
Mend Syndrome
Sacral dimple, Cryptorchidism, Kyphosis, Hydrocephalus, Failure to thrive, Dandy-Walker malformat... ORPHA:401973
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Micropenis OMIM:619718
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Abnormal central motor function, Glioma, Cerebellar glioma, Kyphosis, ... ORPHA:97685
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Short neck, Cryptorchidism, Kyphosis, Hypertonia, Bilater... OMIM:619194
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Short neck OMIM:619745
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Tethered cord, Hypospadias, Urinary incontinenc... OMIM:619522
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Kyphosis, Cryptorchidism, Bicarbonaturia, Proximal renal ... OMIM:309000
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of th... ORPHA:64
Cdags Syndrome
Rectourethral fistula, Kyphosis, Hypospadias OMIM:603116
Mucolipidosis Type Ii
Inability to walk, Kyphosis, Splenomegaly, Hepatosplenomegaly, Weight loss, Left ventricular hype... ORPHA:576
Sotos Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Astrocytoma, Tremor, Vesicoureteral reflux, A... ORPHA:821
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... OMIM:143095
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Facial palsy, Kyphosis, Epispadias, Cryptorchidism, Hydro... ORPHA:2658
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Kyphosis, Cryptorch... ORPHA:1507
Classic Homocystinuria
Hepatomegaly, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Scoliosis ORPHA:394
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Cerebellar vermis hypoplasia, Cryptorchidism OMIM:619123
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Small for gestational age, Hypospadias, Kyphosis,... OMIM:194190
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Coffin-Siris Syndrome 1
Sacral dimple, Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Cryptorchidism, Renal hypoplas... OMIM:135900
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Orthostatic Hypotension 1
Nocturia OMIM:223360
Marfan Syndrome
Cachexia, Kyphosis, Meningocele, Dural ectasia, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Nocturia ORPHA:230
Acromegaly
Cerebral palsy, Dysuria, Kyphosis, Wide penis, Long penis, Spinal canal stenosis, Paresthesia ORPHA:963
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Occipital Horn Syndrome
Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hydronephrosis OMIM:304150
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Scoliosis, Short neck OMIM:618223
Ramon Syndrome
Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight OMIM:266270
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension, Hepatosp... ORPHA:391487
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Cleidocranial Dysplasia 1
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Primrose Syndrome
Ataxia, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Irregular vertebral endplates, Trunca... OMIM:259050
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Somatomammotropinoma
Cerebral palsy, Dysuria, Kyphosis, Spinal canal stenosis, Paresthesia ORPHA:314769
Stickler Syndrome
Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral... ORPHA:828
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Occipital Horn Syndrome
Recurrent urinary tract infections, Kyphosis, Bladder diverticulum, Platyspondyly, Scoliosis ORPHA:198
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Kyphosis, Lumbar hyperlordosis, Cryptorchidism ORPHA:2232
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:881
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Abnormality ... ORPHA:79408
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Proteus Syndrome
Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Long penis, A... ORPHA:744
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Hypospadias, Renal agenesis, Facial palsy, Hyperlordosis, Short ne... OMIM:113620
Coffin-Lowry Syndrome
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis OMIM:303600
Wrinkly Skin Syndrome
Kyphosis, Failure to thrive, Scoliosis, Cryptorchidism OMIM:278250
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Small for gestational age, Anterior concavity of thoracic vertebrae... OMIM:216340
Viss Syndrome
Kyphosis, Hypereosinophilia, Scoliosis, Failure to thrive, Hydronephrosis, Butterfly vertebrae, R... OMIM:619472

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 Zfyve26

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 Zfyve26.

No publications found that use IMPC mice or data for Zfyve26.

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
Zfyve26em1(IMPC)J Indel Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter