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Gene: Tenm4 MGI:2447063

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Gene Summary

Name:
teneurin transmembrane protein 4
Synonyms:
ELM2,  Ten-m4,  Doc4,  Odz4,  l(7)-3Rn,  l7Rn3

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
anophthalmia Tenm4em1(IMPC)Tcp HOM Early adult 0.00
decreased lean body mass Tenm4em1(IMPC)Tcp HOM Late adult 8.54×10-06
small adrenal glands Tenm4em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Tenm4em1(IMPC)Tcp HOM Late adult 0.00
decreased total body fat amount Tenm4em1(IMPC)Tcp HOM Late adult 8.05×10-05
decreased heart weight Tenm4em1(IMPC)Tcp HOM Late adult 4.45×10-07
decreased spleen weight Tenm4em1(IMPC)Tcp HOM Late adult 9.18×10-05
decreased thigmotaxis Tenm4em1(IMPC)Tcp HOM   Early adult 6.56×10-05
increased circulating chloride level Tenm4em1(IMPC)Tcp HOM Late adult 6.24×10-06
decreased bone mineral density Tenm4em1(IMPC)Tcp HOM Late adult 1.71×10-06
decreased grip strength Tenm4em1(IMPC)Tcp HOM Early adult 9.23×10-08
abnormal sternum morphology Tenm4em1(IMPC)Tcp HOM Late adult 0.00
increased grip strength Tenm4em1(IMPC)Tcp HOM Late adult 1.01×10-06
increased circulating sodium level Tenm4em1(IMPC)Tcp HOM Late adult 1.97×10-06
decreased fasting circulating glucose level Tenm4em1(IMPC)Tcp HOM Early adult 6.44×10-06
corneal opacity Tenm4em1(IMPC)Tcp HOM Late adult 9.65×10-07
increased bone mineral content Tenm4em1(IMPC)Tcp HOM Late adult 8.20×10-06

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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.

Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

161 Images

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Eye Morphology

Images Ophthalmoscopy

97 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Slit Lamp

114 Images

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Histopathology

Images

24 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Tenm4 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 Tenm4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736

The table below shows human diseases predicted to be associated to Tenm4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Tremor, ... OMIM:607734
Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Symmetrical progressive periphe... ORPHA:208981
Optic Atrophy 2
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis OMIM:311050
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Upper limb postural tremor, Decreased number of peripheral myelinated... OMIM:180800
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Athetosis, Gliosis, Axonal loss, Paralysis, Dystonia OMIM:300857
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Abnormal myelination, Spastic gait, Babinski sign, L... ORPHA:401840
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, CNS hypomyelination, Sudanophilic leukodystrophy, Ataxia, Abnormal CNS m... OMIM:312080
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Abnormality of extrapyramidal motor fu... OMIM:617672
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Peroxisome Biogenesis Disorder 8B
Spasticity, Frequent falls, Ataxia, Clonus, Ankle clonus, Limb tremor, Rigidity, Spastic parapare... OMIM:614877
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic paraplegia, Onion bulb ... OMIM:182815
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Perip... OMIM:606482
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination, Dystonia OMIM:250850
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Apraxia, Abnormal upper motor neuron morphology, Peripheral demyelination, Gliosis, A... OMIM:221770
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Decreased number of peripheral myelinated nerve fibers, Tetraplegia, Gliosis, Axonal... OMIM:604484
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Hand tremor, Peripheral demyelination, Babinski sign, Onion bulb formation OMIM:618279
Null Syndrome
CNS hypomyelination, Ataxia, Progressive spastic paraplegia, Demyelinating peripheral neuropathy,... ORPHA:280234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... ORPHA:397946
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Peripheral axonal neuropathy, Tremor, Babinski sign OMIM:611105
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Tr... OMIM:609260
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Paraplegia, Myelitis ORPHA:71211
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Hypertrophic nerve changes, Gait ataxia, Onion bulb formation, Segmental peripheral demye... OMIM:601098
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Dystonia, Axonal loss, Ataxia OMIM:616684
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal deg... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Segmental peripheral demyelination, Onion bulb formation, Segme... OMIM:606483
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis OMIM:105500
Mucolipidosis Type Iii
Craniofacial hyperostosis, Reduced bone mineral density, Inguinal hernia, Joint stiffness, Hypopl... ORPHA:577
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Cogwheel rigidity, Peripheral axonal neuropathy, Decr... ORPHA:497764
Progressive Multifocal Leukoencephalopathy
Parkinsonism, Weakness due to upper motor neuron dysfunction, Hemiplegia/hemiparesis, CNS demyeli... ORPHA:217260
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Myelin tomacula, Decreased number of peripheral myelinated nerve fibe... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Hypertrophic nerve changes, Segmental per... OMIM:214400
Winchester Syndrome
Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Corneal opacity, Osteolysis invol... OMIM:277950
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Subacute Inflammatory Demyelinating Polyneuropathy
Frequent falls, Symmetric peripheral demyelination, Tremor, Peripheral demyelination, Diffuse per... ORPHA:206594
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Clumsiness, Decreased number of peripheral myelinated nerve fibers, Slurred speech,... ORPHA:2386
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Gait ataxia, Spastic tetraparesis, Babinski sign OMIM:249900
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Frequent falls, Clusters of axonal regeneration, Decreased number of small peripheral myelinated ... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Peripheral de... OMIM:118200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Hip dysplasia, Abnormal metaphysis morphology, Abnormal metacarpal ... ORPHA:2370
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinate... OMIM:118210
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Spastic Paraplegia 55, Autosomal Recessive
Knee clonus, Peripheral axonal neuropathy, Spastic paraplegia, Onion bulb formation, Babinski sig... OMIM:615035
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Sandhoff Disease, Adult Form
Spasticity, Sensory axonal neuropathy, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia ORPHA:309169
Krabbe Disease
Progressive spasticity, CNS demyelination, Failure to thrive, Peripheral demyelination, Optic atr... OMIM:245200
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Webb-Dattani Syndrome
Hydronephrosis, Cryptorchidism, Hip dislocation, Hypernatremia, Neurogenic bladder, Diabetes insi... OMIM:615926
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Myelin outfol... OMIM:118220
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Segmental peripheral demyel... OMIM:601596
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Decreased circulating renin level, Hyperkalemia OMIM:614492
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Glut1 Deficiency Syndrome 1
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis, Paroxysmal... OMIM:606777
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Megacystis, Diabetes insipidus, Failure to thrive, Polyuria OMIM:304800
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Nephrogenic diabetes insipidus, Failure to thrive, Polyuria OMIM:125800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Sensory axonal neuropathy, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Peripheral axonal neuro... OMIM:607317
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Peripheral demyelination, Axonal regeneration, Onion bulb formation OMIM:615185
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Failure to thrive OMIM:612740
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Vocal cord paralysis, Facial diplegia OMIM:616287
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Myoclonus OMIM:615957
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Chorea, Peripheral demyelination, Peripheral axonal degeneration, Peripheral hypomyelinat... OMIM:604168
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... ORPHA:71277
Charcot-Marie-Tooth Disease, Type 4J
Frequent falls, Peripheral hypomyelination, Axonal loss, Onion bulb formation OMIM:611228
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Hepatomegaly, Large for gestational age ORPHA:2432
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Ataxia, Pseudobulbar paralysis, Symmetric peripheral demyelination, Gliosis, Babinski... OMIM:169500
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia,... ORPHA:35710
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Substantia nigra gliosis, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Ataxia, Spinocerebellar tract degeneration, Tremor, Leukodystrophy, Lower limb spastici... OMIM:617916
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Abnormal urine sebacic acid concent... OMIM:615751
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Ataxia, Failure to thrive, Tremor, Myoclonus, Leukodystrophy OMIM:616494
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Spastic dysarthria, Decreased number of large peripheral myelinate... ORPHA:101111
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the... ORPHA:223
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Frequent falls, Hand tremor, Paraparesis, Decreased number of peripheral myelinated nerve fibers,... OMIM:302800
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Hemolytic anemia, Prolonged neonatal jaundice, Abnormal conj... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Hemolytic anemia, Prolonged neonatal jaundice, Abnormal conj... ORPHA:529808
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve... OMIM:609311
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Ataxia, Clumsiness, Hof... ORPHA:206448
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dy... OMIM:607458
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Dystonia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Spastic ataxia, Myoclonus, ... OMIM:614487
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Hyperintensity of MRI T2 signal of the spinal cord, Ataxia OMIM:609033
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect ORPHA:2956
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Abnormal lower motor neuron morphology, Amyotro... OMIM:105550
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Clumsiness, Rig... ORPHA:216873
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Axonal degeneration/regeneration, Decreased numb... OMIM:605588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy OMIM:613710
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Fasciculations, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased number of ... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Corneal opacity, Abnormality of the liver ORPHA:1980
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:604563
Neuroleptic Malignant Syndrome
Proteinuria, Acute kidney injury, Leukocytosis, Hyperuricemia, Urinary incontinence, Hyperphospha... ORPHA:94093
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Abnormality of the tonsils, Cornea... ORPHA:93476
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Ankle clonus, Decreased number of peripheral myelinated nerve fibers, Spastic paraplegia,... OMIM:604360
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus, Failure to thrive OMIM:619651
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Anencephaly 2
Anophthalmia OMIM:619452
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spasticity, Clonus, Progressive spastic paraplegia, Sensory axonal neuropathy, Spastic paraplegia... ORPHA:139578
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Pulmonic stenosis, Failure to thrive, Hypernatr... OMIM:615508
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Hepatomegaly, Elevated plasma citrulline, Fai... ORPHA:3008
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Mirage Syndrome
Adrenal hypoplasia, Radial club hand, Cryptorchidism, Decreased testicular size, Leukopenia, Micr... OMIM:617053
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Optic disc pallor, P... OMIM:617087
Developmental And Epileptic Encephalopathy 14
Spasticity, Clonus, Tetraplegia, Gliosis, Delayed CNS myelination OMIM:614959
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Alpha-Mannosidosis
Cataract, Craniofacial hyperostosis, Inguinal hernia, Hip dysplasia, Hypoplastic inferior ilia, H... ORPHA:61
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Metachromatic Leukodystrophy
Spastic tetraplegia, Ataxia, Chorea, Peripheral demyelination, Tetraplegia, Babinski sign, Optic ... OMIM:250100
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Hyponatremia, Failure... OMIM:610600
Sialidosis Type 2
Inguinal hernia, Umbilical hernia, Osteoporosis, Hepatomegaly, Nephropathy, Corneal opacity, Flex... ORPHA:87876
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... OMIM:614736
Leukodystrophy, Hypomyelinating, 5
Abnormal pyramidal sign, CNS hypomyelination, Truncal titubation, Intention tremor, Babinski sign... OMIM:610532
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Abnormality of bone mineral density, Megalocornea, Synostosis of carpal ... ORPHA:2741
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Small for gestational age OMIM:616733
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction, Progressive cerebella... ORPHA:275872
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Metatarsal osteolysis, Stage 5 chronic kidney disease, Metacarpal osteolysis, Renal ... OMIM:166300
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Failure to thrive, Hyperkalemia, Hyperactive renin-angiotensin system, Renal ... OMIM:264350
Neuropathy, Congenital Hypomyelinating, 2
Onion bulb formation, Facial diplegia, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Hemiballismus, Tremor, Chorea ORPHA:494526
Spinocerebellar Ataxia 23
Limb ataxia, CNS demyelination, Tremor, Gait ataxia, Babinski sign, Dysmetria OMIM:610245
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Bartter Syndrome, Type 5, Antenatal, Transient
Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc... OMIM:300971
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... OMIM:618815
Spinocerebellar Ataxia Type 26
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Paralysis, Fasciculations, B... ORPHA:101112
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtrat... OMIM:613090
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy ORPHA:99953
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Polyuria, Hyponatremia, Hypo... OMIM:620152
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Neonatal insulin-dependent diabetes ... ORPHA:1667
Bartter Syndrome, Type 1, Antenatal
Hyperaldosteronism, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Hyperparathy... OMIM:601678
Horner Syndrome, Congenital
Paralysis OMIM:143000
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Myelin outfoldings, Irregular myelin loops OMIM:601382
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Failure to thrive, Hy... OMIM:203400
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Hypokalemia, Failure to thr... OMIM:214700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypopituitarism, Increased circulating prolactin concentration, Decreased response to growth horm... ORPHA:91354
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Hand tremor, Sensory axonal neuropathy, Postural tremor, Vocal cord paralysis, Ab... ORPHA:99947
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hyponatremia, Hyperkalemia OMIM:240200
Cystinosis
Rickets, Delayed puberty, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephrogenic diabete... ORPHA:213
Dermoids Of Cornea
Corneal opacity OMIM:304730
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased circulating cortisol lev... OMIM:615830
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Osteoporosis, Isosexual precocious puberty, Abnormal femoral neck/head morp... ORPHA:2788
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556037
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Increased circulating renin level, Abnormal circulating aldosterone, Failu... ORPHA:171876
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Central Diabetes Insipidus
Diabetes insipidus, Failure to thrive, Nocturia, Hyponatremia, Weight loss ORPHA:178029
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia OMIM:615924
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... OMIM:607136
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis OMIM:143100
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Gliosis, Incoordination, Dysmetria OMIM:213200
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Cachexia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
Congenital Rubella Syndrome
Cataract, Jaundice, Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defe... ORPHA:290
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Ataxia, Tremor OMIM:278780
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... OMIM:267700
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyperacti... OMIM:177735
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Dystonia, Ataxia, Chorea, Decreased number of large peripheral m... OMIM:208920
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Prolonged neonatal jaund... ORPHA:199296
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Dysm... OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Frequent falls, Facial palsy, Onion bulb formation OMIM:607684
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... ORPHA:521406
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Osteomalacia, Arthritis, T lymphocytopenia, Follicular... OMIM:619381
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556030
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Dystonia, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegia, Spastic ga... ORPHA:251282
Glutaric Acidemia I
Delayed myelination, Spastic diplegia, Rigidity, Failure to thrive, Symmetrical progressive perip... OMIM:231670
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Clonus, Atrophy of the spinal cord, Abnormal lower motor neuron morpholo... OMIM:602433
Late-Onset Isolated Acth Deficiency
Graves disease, Hypercalcemia, Adrenocorticotropin deficient adrenal insufficiency, Hyperuricemia... ORPHA:199299
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Hartsfield Syndrome
Craniosynostosis, Cryptorchidism, Micropenis, Diabetes insipidus, Ectrodactyly, Syndactyly, Gonad... OMIM:615465
Renal Hypoplasia, Bilateral
Microscopic hematuria, Proteinuria, Cryptorchidism, Small for gestational age, Glycosuria, Chroni... ORPHA:97362
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Hyperuricemia, Chronic kidney disease, Leukopenia, Diabetes mellitus, Anemia, Increa... OMIM:613845
Machado-Joseph Disease Type 3
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... ORPHA:276244
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased circulating cortisol lev... ORPHA:189439
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Hydronephrosis, Congenital hip dislocation, Nephrocalcinosis, Calcinosis, Renal artery ... OMIM:617913
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Ataxia, Tremor, Delayed CNS myelination, Optic atrophy OMIM:300983
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebral hypomyelination, Oculomotor apraxia, Ataxia, Choreoathetosis, Rigidity, Trem... OMIM:612438
Alg8-Cdg
Cataract, Camptodactyly, Small for gestational age, Abnormality of subcutaneous fat tissue, Anemi... ORPHA:79325
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia OMIM:616286
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Eyelid myoclonus, Ataxia OMIM:616421
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia, Thin ribs, Slender long bone, Failure to thrive, Flared... OMIM:602361
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Tremor, Facial palsy, Myoclonus, Tongue fasciculations, Degeneration of anterior ... OMIM:159950
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Cystinosis, Nephropathic
Rickets, Delayed puberty, Diabetes mellitus, Hepatomegaly, Hypokalemia, Reduced blood urea nitrog... OMIM:219800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Hypernatriuria, Elevated circulating follicle stimulating hormone level, Primary... ORPHA:289548
Legionnaires Disease
Myocarditis, Proteinuria, Jaundice, Endocarditis, Pancreatitis, Renal insufficiency, Bone marrow ... ORPHA:549
Corticobasal Syndrome
Limb myoclonus, Parkinsonism, Limb dystonia, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers OMIM:607250
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia ORPHA:363710
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Sensory axonal neuropathy, Clumsiness, Athetosis, Decreased number of large peripheral my... OMIM:271245
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Abnorm... ORPHA:361
Paragangliomas 2
Vagal paraganglioma, Glomus jugular tumor, Chemodectoma, Glomus tympanicum paraganglioma, Vocal c... OMIM:601650
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Parkinsonism, Apraxia, CNS demyelination, Rigidity, Bradykinesia, Gliosis OMIM:221820
Autosomal Recessive Spastic Paraplegia Type 35
Frequent falls, Oculomotor apraxia, Ankle clonus, Generalized dystonia, Dysdiadochokinesis, Perip... ORPHA:171629
Addison Disease
Delayed puberty, Thymoma, Decreased urinary potassium, Hypoparathyroidism, Primary adrenal insuff... ORPHA:85138
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination, Failure to thrive, Tremor, Spastic paraplegia, Babinski sign ORPHA:477673
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Increased se... ORPHA:90791
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Upper motor neuron dysfunction, Ataxia, Babinski sign, Pr... OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Mietens Syndrome
Cataract, Elbow ankylosis, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Join... ORPHA:2557
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Cogwheel rigidity, ... OMIM:613135
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Poor gross motor coordination, Chronic axonal neuropathy, Vocal cord paresis, Dec... ORPHA:99948
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Hypernatriuria, Elevated circulating follicle stimulating hormone level, Primary... ORPHA:168558
Charcot-Marie-Tooth Disease, Type 4D
Frequent falls, Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601455
Charcot-Marie-Tooth Disease Type 2B1
Motor axonal neuropathy, Sensory axonal neuropathy, Clusters of axonal regeneration, Decreased nu... ORPHA:98856
Juvenile Nephropathic Cystinosis
Abnormal long bone morphology, Renal phosphate wasting, Hypouricemia, Hypokalemia, Proximal tubul... ORPHA:411634
Hereditary Coproporphyria
Hepatocellular carcinoma, Abnormal circulating porphyrin concentration, Anemia, Increased urinary... ORPHA:79273
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus OMIM:182940
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Persistent pupillary membrane, Corneal opacity, Aplasia/Hypo... ORPHA:1067
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, Clumsiness, Abnormal lower motor neuron morphol... ORPHA:2590
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Progressive cerebellar ataxia, Dysmyelinating leukodystrophy, Clumsiness,... ORPHA:137898
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Tapered finger, Brachydactyly, Corneal opacity, Abnormal testis morp... ORPHA:317
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypernatriuria, D... OMIM:602522
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Short ribs, Brachydactyly, Coarse metaphyseal trabecularization, Short long... OMIM:618961
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... OMIM:603553
Autoimmune Polyendocrinopathy Type 1
Cataract, Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Incre... ORPHA:3453
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Inguinal hernia, Hip dysplasia, Pointed proximal second through fifth metacarpals... OMIM:253010
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, Thin bony cortex, Mitral valve prolapse, Broad metat... OMIM:259600
Hurler Syndrome
Calvarial hyperostosis, Inguinal hernia, Cardiomyopathy, Hepatomegaly, Flared iliac wing, Diaphys... OMIM:607014
Sanjad-Sakati Syndrome
Cryptorchidism, Hypoparathyroidism, Astigmatism, Abnormal dental enamel morphology, Hyperphosphat... ORPHA:2323
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Optic disc pallor, Abnormality of extrapyramidal motor function, ... ORPHA:320406
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Increased circulating cortisol level, Osteoporosis, Truncal obesity, Primary... OMIM:219080
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Small for gestational age, Hypochloremia, Nephrocalcinosis, Hyperchloriduria,... OMIM:241200
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Axonal degeneration, Peripheral axonal neuropathy, Decreased number of peri... OMIM:615490
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Alg12-Cdg
Proximal placement of thumb, Long fingers, Muscular ventricular septal defect, B lymphocytopenia,... ORPHA:79324
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Bartter Syndrome Type 4
Hyperaldosteronism, Acute kidney injury, Small for gestational age, Nephrocalcinosis, Chronic kid... ORPHA:89938
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Hepatomegaly, Rocker bottom foot, Elevated circulating creatine kinase... OMIM:301056
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Dystonia, Ataxia, Progressive spastic paraplegia, Fasciculations, Delayed peripheral ... ORPHA:464282
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Dystonia, Progressive cerebellar ataxia, Ataxia, Facial-li... OMIM:109150
Variegate Porphyria
Paralysis OMIM:176200
Machado-Joseph Disease Type 1
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... ORPHA:276241
Spinocerebellar Ataxia 25
Babinski sign, Oculomotor apraxia, Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Reduced bone mineral density, Grayish enamel, Abnormal metaphysis morpholo... ORPHA:582
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic tetraplegia, Torticollis, Dysmyelinating leukodystrophy, Ataxia, Demyelinatin... OMIM:609136
Short Syndrome
Lipodystrophy, Inguinal hernia, Diabetes mellitus, Megalocornea, Abnormal pupil morphology, Abnor... ORPHA:3163
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypernatriuria, Elevated urinary epinephrine... ORPHA:90794
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:620126
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Hypernatriuria, Decreased serum creatinine, Reduced blood urea ... OMIM:300539
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Spastic tetraplegia, Peripheral demyelination, Opisthotonus, Gliosis, Axonal lo... OMIM:252160
Carpenter Syndrome 1
Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy of Fallot, Polysplenia, P... OMIM:201000
Panhypophysitis
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:95513
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Small for gestational age, Gliosis, Delayed CNS myelination, Hypertonia OMIM:615095
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Limb tremor, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, ... OMIM:218000
Familial Dysautonomia
Abnormality of the peritoneum, Osteolysis, Corneal erosion, Abnormal pupil morphology, Renal insu... ORPHA:1764
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimulation test, Dorsoc... ORPHA:189427
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Small for gestational age, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia,... OMIM:261640
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:620125
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Dystonia 12
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia OMIM:128235
Adenohypophysitis
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:95512
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Al-Gazali Syndrome
Hydronephrosis, Proximal radio-ulnar synostosis, Wrist flexion contracture, Osteopenia, Failure t... OMIM:609465
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:404
Leigh Syndrome
Spasticity, Ataxia, CNS demyelination, Failure to thrive, Gliosis, Hepatocellular necrosis, Optic... OMIM:256000
Whipple Disease
Myocarditis, Anemia, Hepatomegaly, Cachexia, Hyponatremia, Arthritis, Hypothyroidism, Mediastinal... ORPHA:3452
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypokalemia, Hyper... ORPHA:251274
Brachyolmia Type 1, Toledo Type
Short femoral neck, Precocious costochondral ossification, Opacification of the corneal stroma, B... OMIM:271630
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin co... ORPHA:100924
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Frequent falls, Hand tremor, Chronic axonal neuropathy, Decreased number of large peripheral myel... OMIM:162400
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Ce... ORPHA:70594
Shigellosis
Myocarditis, Abnormal blood ion concentration, Peritonitis, Acute kidney injury, Corneal ulcerati... ORPHA:810
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, CNS demyelination, Rigidity, Laryngeal dystonia, Fasciculations, D... ORPHA:99
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Tangier Disease
Peripheral demyelination, Peripheral axonal neuropathy, Facial diplegia OMIM:205400
Molybdenum Cofactor Deficiency, Complementation Group A
Myoclonic spasms, Spastic tetraplegia, Peripheral demyelination, Opisthotonus, Gliosis, Axonal lo... OMIM:252150
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Corneal opacity, Splenome... ORPHA:79292
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Gliosis, Myoclonus OMIM:225753
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Secretory adrenocortical adenoma, D... ORPHA:403
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:136120
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Optic atrophy, Dystonia, Spastic paraparesis ORPHA:329284
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Dystonia, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia,... OMIM:618877
Huntington Disease-Like 1
Frequent falls, Simultanapraxia, Clumsiness, Chorea, Bradykinesia, Gait ataxia, Gliosis, Slurred ... ORPHA:157941
Brittle Cornea Syndrome 2
Corneal perforation, Inguinal hernia, Megalocornea, Keratoglobus, Umbilical hernia, Decreased cor... OMIM:614170
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Corneal opacity, Hematuria, Posterior embryotoxon ORPHA:1473
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Hyperaldosteronism, Inguinal hernia, Hip dislocation, Nephrocalcinosis, Hyperpar... ORPHA:534
Morquio Syndrome C
Corneal opacity OMIM:252300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, CNS hypomyelination, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, L... OMIM:607694
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Increased circulating renin level, Decreased urinary potassium, ... ORPHA:427
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Flexion contractur... ORPHA:682
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Hyperintensity of MRI T2 signal of the spinal cord, Fascicula... ORPHA:99965
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hyponatremia, Failure to thrive OMIM:620157
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Hypercalcemia, Increased c... ORPHA:95409
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Small for gestational age, Abnormal T cell morphology, Nephro... OMIM:215250
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Failure to thrive in i... ORPHA:90103
Multiple Sulfatase Deficiency
Spasticity, Peripheral demyelination, CNS demyelination, Ataxia OMIM:272200
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Ataxia, Astrocytosis, Abnormality of extrapyramidal motor fu... ORPHA:204
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal spurs, Ectopia pupillae, Hypoplastic ilia, Ivory epiphyses, Femoral spur, Bowing of t... ORPHA:85167
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Progressive cerebellar ataxia, Astrocytosis, Clumsiness, Spastic dysarth... ORPHA:282166
Developmental And Epileptic Encephalopathy 71
Gliosis, CNS demyelination OMIM:618328
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Zellweger Syndrome
Cataract, Hydronephrosis, Brushfield spots, Cryptorchidism, Jaundice, Ventricular septal defect, ... ORPHA:912
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Hemiparesis, Ataxia, Paraparesis, Pseudopapilledema, Paralysis ORPHA:140989
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Ventricular septal defect, H... ORPHA:369929
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... OMIM:617145
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Jaundice, Abnormal circulating androgen le... ORPHA:90790
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Osteoporosis, Decreased circulating ACTH level, Macronodula... OMIM:615954
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Inguinal hernia, Joint stiffness, Umbilical hernia, Abnormal hip bone morp... ORPHA:584
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Leukodystrophy, Rigidity OMIM:615010
Lowry-Maclean Syndrome
Craniosynostosis, Inguinal hernia, Megalocornea, Atrioventricular canal defect, Osteoporosis, Ost... ORPHA:2409
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Tremor, Bradykinesia, Writer's... OMIM:606159
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:90793
Snakebite Envenomation
Hypopituitarism, Acute kidney injury, Thrombocytopenia, Hyponatremia ORPHA:449285
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Elbow ankylosis, Abnormal metacarpophalangeal joint morphology, Metatarsal synos... ORPHA:95699
Pituitary Apoplexy
Hypopituitarism, Elevated circulating growth hormone concentration, Mydriasis, Increased circulat... ORPHA:95613
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Abnormality of extrapyramidal... ORPHA:98757
Focal Dermal Hypoplasia
Camptodactyly of finger, Inguinal hernia, Ventricular septal defect, Horseshoe kidney, Toe syndac... ORPHA:2092
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski ... OMIM:616505
Porphyria Variegata
Hepatocellular carcinoma, Inappropriate antidiuretic hormone secretion, Chronic kidney disease, N... ORPHA:79473
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Limited knee extension, Abnormal femoral head morphology, Coxa vara, Abnor... ORPHA:239
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Limb ataxia, Hand tremor, Cervical spinal cord atrophy, Optic n... ORPHA:101085
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue tremor, Motor axonal neuropathy, Sensory axonal neuropathy, Diaphragmatic paralysis, Atrop... ORPHA:466768
Sheehan Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Breast hypoplasia, De... ORPHA:91355
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Spinocerebellar Ataxia, Autosomal Recessive 27
Spasticity, Frequent falls, Torticollis, Spastic ataxia, Gait ataxia, Lower limb hypertonia, Gliosis OMIM:618369
4H Leukodystrophy
Cerebral hypomyelination, Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor fu... ORPHA:289494
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation OMIM:615284
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Abnormal pyramidal sign, CNS hypomyelination, Cerebral hypomyelination, Ataxia, Dysdi... OMIM:614381
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Abnormal finger morphology, Abnormal toe morphology, Osteopenia, Hypophosphatem... OMIM:163200
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Ataxia, Titubation, Abnormal myelination, Failure to thrive, Gliosis, L... ORPHA:280210
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Gliosis, Severe de... OMIM:236792
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... ORPHA:650
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Hypothyroidism, Hyponatremia ORPHA:83601
Mucolipidosis Iv
Hypergastrinemia, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria OMIM:617810
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... ORPHA:79263
Neuropathy, Hereditary Sensory, Type Ie
Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Leukocytosis, Renal insufficienc... ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Left ventricular h... OMIM:613153
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104