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Gene: Kcnj10 MGI:1194504

Gene Summary

Name:

potassium inwardly-rectifying channel, subfamily J, member 10

Synonyms:

Kir1.2, BIR10, Kir4.1, BIRK-1

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	Allele	Zyg	Life Stage	P Value
tremors	Kcnj10^{tm1b(KOMP)Wtsi}	HET	Early adult	9.22×10^-05
preweaning lethality, complete penetrance	Kcnj10^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased mean platelet volume	Kcnj10^{tm1b(KOMP)Wtsi}	HET	Early adult	6.53×10^-26
decreased exploration in new environment	Kcnj10^{tm1b(KOMP)Wtsi}	HET	Early adult	7.49×10^-05
increased startle reflex	Kcnj10^{tm1b(KOMP)Wtsi}	HET	Early adult	4.76×10^-09
decreased basophil cell number	Kcnj10^{tm1b(KOMP)Wtsi}	HET	Early adult	6.14×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	50% (1 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

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

11 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

Human diseases caused by Kcnj10 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.

Human diseases associated with Kcnj10 (4 diseases)
Human diseases predicted to be associated with Kcnj10 (1300 diseases)

The table below shows human diseases associated to Kcnj10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circ...	OMIM:612780
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791

The table below shows human diseases predicted to be associated to Kcnj10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In...	OMIM:312080
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Memory impairment	ORPHA:85292
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria, Growth delay	OMIM:247950
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal degeneration, De...	OMIM:302800
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri...	ORPHA:90103
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto...	OMIM:614561
Threoninemia	Growth delay, Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
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
Saccharopinuria	Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc...	OMIM:268700
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria	OMIM:145980
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circ...	OMIM:612780
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment, Hearing impairment	OMIM:614369
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,...	OMIM:616515
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Mental deterioration, Spasticity	ORPHA:309169
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Sensorineural hearing impairment, Chorea, Optic...	ORPHA:79097
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair...	ORPHA:217012
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d...	ORPHA:52368
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax...	OMIM:620158
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop...	OMIM:613388
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, D...	ORPHA:101109
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Myelopathy, Ve...	ORPHA:268882
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor	OMIM:162091
Hypocalcemia, Autosomal Dominant 1	Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra...	OMIM:615362
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i...	OMIM:165300
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Hypomagnesemia, Growth delay, Enuresis, Hypokalemia, Hypocalci...	OMIM:263800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat...	OMIM:614436
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Epilepsy, Progressive Myoclonic 7	Tremor, Mental deterioration, Ataxia, Myoclonus	OMIM:616187
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr...	ORPHA:216873
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he...	OMIM:617519
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph...	ORPHA:401768
Opticocochleodentate Degeneration	Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment	OMIM:258700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of...	OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 12	Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability	OMIM:128235
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Short stature,...	OMIM:604168
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Spinocerebellar Ataxia Type 2	Postural tremor, Kinetic tremor, Parkinsonism, Chorea, Cerebellar Purkinje layer atrophy, Gait at...	ORPHA:98756
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Hearing impairment, Hand tremor, Spastic dysarthria, Abnormal myelination,...	ORPHA:401830
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ...	ORPHA:320401
Ravine Syndrome	Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Decrea...	ORPHA:99852
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t...	ORPHA:247245
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ...	ORPHA:314632
Salt And Pepper Developmental Regression Syndrome	Optic atrophy, Multifocal epileptiform discharges, Choreoathetosis, Myoclonus, Failure to thrive,...	OMIM:609056
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis, Short stature, Hearing impairment	OMIM:312910
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma, Distal sensory impai...	OMIM:613641
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu...	OMIM:236792
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Carnosinemia	Carnosinuria	OMIM:212200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret...	OMIM:614732
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Dystonia, Cerebral cor...	ORPHA:98934
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Ce...	OMIM:617672
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Spinocerebellar Ataxia Type 12	Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo...	ORPHA:98762
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Chorea, Babinski sign, Delayed myelination, Choreoathetosis, EEG abnormality, Hyp...	OMIM:618451
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Short stature, Axonal degeneration, Brachial plexus neuropathy, L...	OMIM:162100
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Intellectual Developmental Disorder, X-Linked 104	Delayed CNS myelination, Abnormal pinna morphology, Ataxia, Tremor, Optic atrophy, Spasticity, Ce...	OMIM:300983
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki...	OMIM:300009
Friedreich Ataxia	Decreased motor nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Impaired proprio...	ORPHA:95
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity	OMIM:615768
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi...	ORPHA:79263
Phenylketonuria	Aminoaciduria	ORPHA:716
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto...	ORPHA:454887
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Limb dystonia, Intrauterine growth retardation, Hearing impairment	OMIM:620270
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata...	ORPHA:282166
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat...	ORPHA:88628
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Glutamate Formiminotransferase Deficiency	Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor...	OMIM:229100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi...	OMIM:618093
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Sensorineural hearing im...	OMIM:214150
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Spinocerebellar Ataxia 17	Cerebellar atrophy, Apraxia, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dy...	OMIM:607136
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Delayed myelination, Spastic tetrapl...	OMIM:613811
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level	OMIM:613677
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu...	OMIM:261630
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, EEG abnormality, Hemiparesis, Hypertonia, Myoclonus, ...	ORPHA:71277
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,...	OMIM:615924
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Chorea, O...	ORPHA:98755
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Developmental And Epileptic Encephalopathy 17	Delayed CNS myelination, EEG with burst suppression, Chorea, Cerebral atrophy, Hypsarrhythmia, At...	OMIM:615473
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Short stature, Optic nerve hypoplasia, Macrotia, Chorea, Spastic te...	OMIM:617864
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversa...	OMIM:125250
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D...	ORPHA:101085
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Delayed CNS myelination, Dystonia, Involuntary movements, Chorea, Multifocal ...	OMIM:617493
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Spastic paraparesis,...	ORPHA:909
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ...	ORPHA:71517
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Abnormal nerve conduction velocity, Hearing impairment	ORPHA:101075
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Severe short stature	ORPHA:2278
Stimmler Syndrome	Intrauterine growth retardation, Aminoaciduria, Short stature	ORPHA:3199
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast...	OMIM:258501
Cataract-Ataxia-Deafness Syndrome	Ataxia, Short stature, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairm...	ORPHA:1368
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei...	ORPHA:157941
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Parkinsonism with favorable respons...	OMIM:616710
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Combined Oxidative Phosphorylation Deficiency 47	Posteriorly rotated ears, Sensorineural hearing impairment, Dehydration, Low-set ears, Intrauteri...	OMIM:618958
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Short stature, Sensorineural hearing impairment, Dysmetria, Gait atax...	OMIM:616291
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im...	OMIM:615483
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme...	OMIM:617284
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch...	OMIM:301310
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Hsd10 Disease	Ataxia, Tremor, Rigidity, Postnatal growth retardation, Optic atrophy, Frontotemporal cerebral at...	ORPHA:391417
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Ataxia, Cerebral dysmy...	OMIM:609136
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper...	OMIM:616981
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Abnormal posturing, Dystonia, Progressive s...	OMIM:304700
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Ataxia, Low-set ears	OMIM:618951
Hyper-Beta-Alaninemia	Increased urinary taurine, Hyperbeta-alaninemia	OMIM:237400
Transient Neonatal Diabetes Mellitus	Small for gestational age, Dehydration, Intrauterine growth retardation, Failure to thrive, Heari...	ORPHA:99886
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici...	OMIM:616881
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Sensorineural hearing impairment, Axonal degeneration, Optic atroph...	OMIM:278800
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl...	OMIM:615605
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Oculogyric crisis, Chorea, Cerebral atrophy, EEG abnormality, Hyperkinetic mo...	OMIM:614254
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A...	OMIM:604320
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat...	ORPHA:240103
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad...	ORPHA:363710
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Thrombocytopenia	OMIM:615010
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Abnormality of the dorsal colum...	ORPHA:137898
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin...	OMIM:605285
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Hearing impairment	ORPHA:101078
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia	OMIM:238750
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Delayed CNS myelination, Short stature, Chorea, Hypsarrhythmia, Choreoathetosis, Athetosis, Failu...	OMIM:309541
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Chorea, Multifocal epileptiform discharges, Cerebral atrophy, Opisthotonus, M...	OMIM:616672
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo...	OMIM:300554
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Chorea, Poor coordination, EEG abnormality, Dystonia, Paroxysmal dyskinesia	OMIM:619150
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Megacystis, Polyuria, Short stature	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Megacystis, Polyuria, Short stature	OMIM:304800
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Ataxia, Short stature, Abnormal a...	OMIM:619260
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal pyramida...	OMIM:256600
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Severe short stature	OMIM:204730
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa...	ORPHA:240085
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor	OMIM:266130
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Spinocerebellar Ataxia 47	Ataxia, Short stature, Chorea, Dysmetria, Low-set ears, Spasticity, Cerebellar vermis atrophy	OMIM:617931
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv...	ORPHA:401840
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, EEG with photoparoxysmal response, Spastic tetraplegia, Athetosis, Dy...	OMIM:619922
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Cerebr...	ORPHA:508093
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Postnatal growth retardation, Hypercalci...	OMIM:227810
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:607706
Juvenile Huntington Disease	Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Progressive cerebellar at...	ORPHA:248111
Developmental And Epileptic Encephalopathy 27	Chorea, Hypsarrhythmia, Myoclonus, Dystonia, Spasticity	OMIM:616139
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Sensorineural hearing impairment, Growth delay, Choreoatheto...	OMIM:614932
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Schimke X-Linked Mental Retardation Syndrome	Choreoathetosis, Spasticity, Growth delay, Hearing impairment	OMIM:312840
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani...	OMIM:620011
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Myoclonus, Intractable, Neonatal	Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus	OMIM:617235
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Reticular Dysgenesis	Dehydration, Weight loss, Chronic otitis media, Failure to thrive, Hearing impairment	ORPHA:33355
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Dysmetria, Basal ganglia gliosis, Global brain atrophy	OMIM:603218
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Peripheral axonal neuropathy, Dystonia, Ataxia, Incoordination, Sensorineural hearing impairment,...	OMIM:601338
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Sneddon Syndrome	Tremor, Vertigo, Chorea, Hemiparesis	ORPHA:820
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Spasticity, Low-set ears, Continuous spike and waves during slow slee...	OMIM:620149
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ...	ORPHA:397946
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction ve...	ORPHA:99014
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv...	ORPHA:309271
Parkinsonism With Polyneuropathy	Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam...	OMIM:619279
Developmental And Epileptic Encephalopathy 84	Delayed CNS myelination, EEG with burst suppression, Chorea, Babinski sign, Opisthotonus, Hypsarr...	OMIM:618792
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	EEG abnormality, Chorea, Dystonia	OMIM:618760
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Normal interictal EEG, Parox...	ORPHA:31709
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Homocarnosinosis	Carnosinuria	OMIM:236130
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, EEG abnormality, Hemipare...	OMIM:606777
Krabbe Disease	Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel...	OMIM:245200
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Ataxia, Short stature, Tremor, Sensorineural hearing impairment, Dysmetria, G...	OMIM:610185
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso...	OMIM:118300
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Cognitive imp...	OMIM:615528
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Dehydration, Choreoathetosis, Dystonia, Failure to thrive	ORPHA:79312
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Short stature, Polyuria, Increased serum prostaglandin E2, Renal salt wasting, ...	OMIM:601678
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Delayed CNS myelination, Chorea, Hemiparesis, Dystonia, Macrotia, Cerebral c...	OMIM:618004
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin...	OMIM:619565
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239500
Birk-Aharoni Syndrome	Chorea, Failure to thrive, Spastic tetraplegia, Hearing impairment	OMIM:620071
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations	OMIM:615048
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Saccharopinuria	Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm...	ORPHA:3124
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Dehydration, Myoclonus, Failure to thrive, Hearing impairment	OMIM:560000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Nabais Sa-De Vries Syndrome, Type 2	Posteriorly rotated ears, Failure to thrive in infancy, Polyhydramnios, Chorea, Protruding ear, H...	OMIM:618829
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti...	ORPHA:139399
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis...	OMIM:616648
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, P...	ORPHA:300605
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Gait ataxia, EEG abno...	ORPHA:500180
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas...	OMIM:615157
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Irritability, Neutropenia,...	OMIM:229050
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Hypsarrhythmia, Gait...	OMIM:618321
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Short stature	ORPHA:417
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy...	ORPHA:399
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Multifocal epileptifor...	ORPHA:599373
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Progressive hearing impairment, Abnorm...	ORPHA:97229
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Ataxia, Cachexia, Short stature, Optic atrophy, Choreoathetosis, Dy...	ORPHA:702
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy	OMIM:212840
Pontocerebellar Hypoplasia, Type 2C	Chorea, Dystonia	OMIM:612390
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Familial Cold Urticaria	Dysesthesia, Sensorineural hearing impairment, Dehydration	ORPHA:47045
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Axonal degeneration, Clonus, Tongue fasciculations	OMIM:618811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
D-Glyceric Aciduria	Chorea, Myoclonus, Brain atrophy, Spasticity, Hearing impairment	ORPHA:941
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Growth delay, Bilateral sensori...	OMIM:619422
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Tremor, ...	ORPHA:2590
Teratoma, Pineal	Polyuria	OMIM:273120
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Choreoathetosis, Myoclonus, Progressive sensorineural hearing impairm...	OMIM:301020
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment	OMIM:616155
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota...	OMIM:618598
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunct...	ORPHA:101077
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Ataxia, Short stature, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, My...	ORPHA:251347
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:18
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Lethal Congenital Contracture Syndrome 8	Polyhydramnios, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peripheral hypo...	OMIM:616287
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity, Sensorineural hearing impairment, Delayed myelination, Chore...	ORPHA:319514
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen...	OMIM:601152
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Dehydration, Choreoathetosis, Tetraparesis	ORPHA:27
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Chorea, Delayed myelination, Progressive cerebellar ataxia, EEG with focal...	ORPHA:485350
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Developmental And Epileptic Encephalopathy 6B	Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor...	OMIM:619317
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Rigidity, Demye...	OMIM:608804
7Q31 Microdeletion Syndrome	Speech apraxia, Torticollis, Postnatal growth retardation, Hypoplasia of the cochlea, Hypoplasia ...	ORPHA:251061
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Leigh Syndrome	Chorea, Choreoathetosis, Gliosis, Leukodystrophy, Ataxia, Hypsarrhythmia, Athetosis, Sensory axon...	ORPHA:506
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Conductive hearin...	OMIM:618497
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat...	OMIM:615673
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Abnormal myelination, Cerebral c...	ORPHA:401820
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Myoclonus, Intr...	OMIM:617065
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A...	OMIM:619738
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la...	OMIM:162400
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
X-Linked Intellectual Disability, Schimke Type	Failure to thrive in infancy, Short stature, Choreoathetosis, Spasticity, Cerebral cortical atrop...	ORPHA:85285
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level	OMIM:610600
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Progressive ...	ORPHA:206448
Chorea, Benign Hereditary	Chorea, Frequent falls	OMIM:118700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Axonal degeneration	OMIM:618138
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy...	OMIM:169400
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level	OMIM:203400
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Writer's cramp, Parkinsonism, Involuntary move...	ORPHA:98759
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon...	OMIM:159550
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Facial palsy, Action tremor, Optic atrophy, Cerebral atrophy, Distal ...	ORPHA:254886
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Galactose Epimerase Deficiency	Growth delay, Aminoaciduria	ORPHA:79238
X-Linked Hypophosphatemia	Disproportionate short stature, Renal phosphate wasting, Growth delay, Hypocalciuria, Hypophospha...	ORPHA:89936
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Chorea, Multifocal epileptifo...	ORPHA:70472
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Delayed CNS myelination, Posteriorly rotated ears, Ataxia, Involuntary moveme...	OMIM:617804
Autosomal Recessive Spastic Paraplegia Type 57	Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasticity, Abnormality o...	ORPHA:431329
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy...	OMIM:616811
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Paralysis, Tremor, Ver...	ORPHA:297
Full Schwannomatosis	Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Peripheral schwannoma, Spinal cord tum...	ORPHA:93921
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram...	ORPHA:309246
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Short stature, Polyuria, Increased serum prostaglandin E2, Renal salt wasting, ...	OMIM:241200
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Sensorineural hearing impa...	OMIM:619737
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parap...	OMIM:607483
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet...	OMIM:233910
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h...	ORPHA:97362
Chromosome 18Q Deletion Syndrome	Delayed CNS myelination, Failure to thrive in infancy, Short stature, Tremor, Sensorineural heari...	OMIM:601808
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma...	OMIM:613608
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Rhizomelia, Polyhydramnios, Tremor, Cerebral atrophy, Dehydration, Ch...	OMIM:616271
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Memory impair...	OMIM:137440
Striatonigral Degeneration, Infantile	Optic atrophy, Choreoathetosis, Dystonia, Spasticity, Failure to thrive	OMIM:271930
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ...	ORPHA:206436
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Urocanase Deficiency	Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ...	ORPHA:139578
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity	OMIM:176500
Epilepsy, Progressive Myoclonic, 6	Tremor, Memory impairment, Ataxia, Myoclonus	OMIM:614018
Pontocerebellar Hypoplasia, Type 2A	Polyhydramnios, Chorea, Optic atrophy, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia...	OMIM:277470
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul...	ORPHA:65684
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Br...	OMIM:261640
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Gorham-Stout Disease	Torticollis, Edema, Spinal cord compression, Pleural effusion, Abnormality of the internal audito...	ORPHA:73
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Growth delay, Dystonia	ORPHA:289916
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera...	OMIM:218000
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Polyhydramnios, Paralysis, Cerebral atrophy, Facial diplegia	OMIM:616286
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G...	ORPHA:445062
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Short stature, Tremor, Rigidity, Opti...	ORPHA:442835
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Progressive ex...	ORPHA:382
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Hsd10 Mitochondrial Disease	Sensorineural hearing impairment, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity...	OMIM:300438
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atrophy, Spas...	ORPHA:225154
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Tongue f...	ORPHA:276435
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Low-set ears, Failure to thrive	ORPHA:477673
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Delayed CNS myelination, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Chor...	OMIM:617964
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere...	OMIM:617916
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c...	ORPHA:228360
Chorea, Remitting, With Nystagmus And Cataract	Chorea	OMIM:601372
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis	ORPHA:329284
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto...	OMIM:606703
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Short stature, Hypophosphatemia	OMIM:193100
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti...	ORPHA:33445
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Peroxisomal Acyl-Coa Oxidase Deficiency	Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Hypertonia, Low-set ears, Abnor...	ORPHA:2971
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, EEG with photoparoxysmal respon...	OMIM:616230
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia...	ORPHA:98890
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Optic atrophy, Hydr...	ORPHA:79282
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Ataxia, Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impai...	ORPHA:1933
Leigh Syndrome	Ataxia, Sensorineural hearing impairment, Optic atrophy, Gliosis, Dystonia, CNS demyelination, Sp...	OMIM:256000
Cataract 11, Multiple Types	Chorea, Hypertonia	OMIM:610623
Pontocerebellar Hypoplasia, Type 8	Posteriorly rotated ears, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Low-set ears, S...	OMIM:614961
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp...	OMIM:616795
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Vertigo, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo...	OMIM:162500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Chronic axonal neuropathy, Dystoni...	OMIM:606002
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Spastic diplegia, Increased mean platelet volume	OMIM:300048
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Ataxia, Multifocal epileptiform discharges, Cerebral atrophy, Choreoathetos...	OMIM:272300
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,...	ORPHA:478029
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Brain atrophy, Cerebral atrophy, Abnormal myelination	ORPHA:85179
Chromosome Xq21 Deletion Syndrome	Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ...	OMIM:303110
Apparent Mineralocorticoid Excess	Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka...	ORPHA:320
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus...	OMIM:619092
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, EEG abnormality, Limb hypertonia, Dystonia...	OMIM:618247
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Macrotia	OMIM:616269
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Abnormal vestibular function, Cerebellar atrophy, Periphe...	ORPHA:276244
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Gait at...	ORPHA:98771
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Abnormality of vis...	ORPHA:309263
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz)	ORPHA:79137
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Hypsarrhythmi...	ORPHA:13
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Chorea, Low-set ears, Decreased body...	OMIM:300260
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia	ORPHA:640
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Chorea, Cerebral atrophy, Gait ataxia, Dystonia, Spasticity	OMIM:618917
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr...	ORPHA:309256
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea	OMIM:607674
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babi...	OMIM:128100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Tremor, Postnatal growth retardation, Obesity, Spastic diplegia, Protruding ear, Low-set ears, Dy...	ORPHA:480907
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H...	ORPHA:238455
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Abnormality of the seventh cranial nerve, Distal sensory imp...	ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo...	OMIM:618387
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Delayed CNS myelination, Ataxia, Tremor, Large fleshy ears, Hypertonia, Failure to thrive	OMIM:619556
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration, Dystonia	ORPHA:289504
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Cimdag Syndrome	Ataxia, Sensorineural hearing impairment, Chorea, Cerebral atrophy, Pontocerebellar atrophy, Dyst...	OMIM:619273
Developmental And Epileptic Encephalopathy 29	Short stature, Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia, Intra...	OMIM:616339
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Apraxia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesity...	OMIM:300055
Sialidosis Type 2	Ataxia, Short stature, Tremor, Hydrops fetalis, Pedal edema, Ascites, Hearing impairment	ORPHA:87876
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em...	ORPHA:542310
Chorea, Benign Familial	Chorea	OMIM:215450
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment	ORPHA:79234
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Canavan Disease	Optic atrophy, EEG abnormality, Hypertonia, Abnormality of visual evoked potentials, Hearing impa...	ORPHA:141
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Decreased ...	ORPHA:101097
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Frequent falls, Abnormal auditory evo...	OMIM:617523
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypopho...	OMIM:156400
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Autosomal Agammaglobulinemia	Chronic otitis media, External ear malformation, Failure to thrive, Dehydration	ORPHA:33110
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D...	ORPHA:90646
Rett Syndrome, Congenital Variant	Chorea, Delayed myelination, Protruding ear, EEG abnormality, Athetosis, Dystonia, Spasticity, Ap...	OMIM:613454
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,...	ORPHA:466768
Spinocerebellar Ataxia Type 27	Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Truncal ataxia, Memory impairment	ORPHA:98764
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas...	ORPHA:101
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena...	ORPHA:556037
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E...	OMIM:605850
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leuk...	OMIM:612438
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia...	ORPHA:70594
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp...	OMIM:239000
Alternating Hemiplegia Of Childhood	Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Dehydration, Chor...	ORPHA:2131
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Clonus, Polyhydramnios, Chorea, Babinski sign, Cerebral atrophy, Opisthotonus...	OMIM:612389
Ritscher-Schinzel Syndrome 4	Ataxia, Short stature, Chorea, Athetosis, Macrotia	OMIM:619435
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Huntington Disease-Like 3	Caudate atrophy, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progressive g...	ORPHA:157946
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	EEG abnormality, Chorea, Spasticity, Dystonia	OMIM:613970
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Peripheral axonal neuropathy, Paralysis, Distal sensory impairment	OMIM:613710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Oligohydramnios, Dehydration, Low-set ears, Failure to thrive, Hearing...	OMIM:208085
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoathetosis, Limb dystonia, Fr...	OMIM:619054
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sens...	ORPHA:98768
Distal Deletion 10Q	Failure to thrive, Ataxia, Clonus, Short stature, Postnatal growth retardation, Congenital sensor...	ORPHA:96148
Huntington Disease-Like 3	Caudate atrophy, Ataxia, Chorea, Abnormal pyramidal sign, Spasticity, Abnormality of extrapyramid...	OMIM:604802
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney...	ORPHA:411634
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Argininosuccinic Aciduria	Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Dysmetria, Gait ataxia, Choreoathetosi...	OMIM:604391
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent fall...	OMIM:184850
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Optic atrophy, Cereb...	OMIM:616034
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Intrauterine growth retardation, Dehydration	OMIM:601410
Propionic Acidemia	Short stature, Cerebral atrophy, Dehydration, Dystonia, Failure to thrive, Limb hypertonia	OMIM:606054
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus	OMIM:618567
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Oculomotor apraxia	OMIM:614867
Machado-Joseph Disease Type 1	Cerebellar atrophy, Abnormal vestibular function, Substantia nigra gliosis, Facial-lingual fascic...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Abnormal vestibular function, Substantia nigra gliosis, Facial-lingual fascic...	ORPHA:276241
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, EEG abnormality, Brain atrophy, Low-set ears, Spasticity	OMIM:618718
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Intrauterine grow...	OMIM:618238
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Oculoskeletodental Syndrome	Renal agenesis, Short stature, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia	OMIM:618440
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab...	ORPHA:139396
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Short stature, Tremor, Sensorineural hearin...	OMIM:300957
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor...	ORPHA:1435
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Tremor, Cranial nerve compression, Paroxysmal...	ORPHA:94080
Niemann-Pick Disease Type C	Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Progressive gait ataxia,...	ORPHA:646
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Abnormal posturing, Opisthotonus, Weight loss, Spasticit...	ORPHA:216866
Lamellar Ichthyosis	Chronic otitis media, Short stature, Abnormal helix morphology, Dehydration	ORPHA:313
Hemimegalencephaly	EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ...	ORPHA:99802
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Renal corticomedu...	OMIM:243910
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi...	ORPHA:391428
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spas...	OMIM:617810
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Short stature, Tremor, Babinski sign, Optic atrophy,...	OMIM:607694
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Polyhydramnios, Short stature, Sensorineural h...	OMIM:619847
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor	OMIM:619473
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Babinski sign, Dysmetria, ...	ORPHA:504476
Brain-Lung-Thyroid Syndrome	Apraxia, Incoordination, Ataxia, Involuntary movements, Short stature, Sensorineural hearing impa...	ORPHA:209905
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Short stature, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, ...	OMIM:616026
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination, ...	OMIM:615273
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Sydenham Chorea	Chorea, Hemiballismus	ORPHA:306731
Asparagine Synthetase Deficiency	Caudate atrophy, Failure to thrive, Exaggerated startle response, Optic nerve hypoplasia, Clonus,...	OMIM:615574
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Edema of the dorsum of feet, Ede...	ORPHA:521426
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Trisomy X	Tremor, Attention deficit hyperactivity disorder, Cognitive impairment, Depression	ORPHA:3375
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Classic Phenylketonuria	Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Attention deficit hyperactivity...	ORPHA:79254
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo...	ORPHA:73224
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Short stature, Tremor, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Spas...	OMIM:213200
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Short stature, Tremor, Optic atrophy, Dysmetria, Progressive gait ata...	ORPHA:289494
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena...	ORPHA:556030
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairmen...	OMIM:105210
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Optic atrophy, Dysmetri...	ORPHA:845
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi...	OMIM:610217
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, EEG with burst suppression, Aplasia/Hypoplasia...	ORPHA:168486
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Dehydration, Weight loss, Apraxia, Intrauterine growth reta...	ORPHA:99885
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Mental deterioration, Dysmetria, Gait ataxia, Brad...	OMIM:300623
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l...	ORPHA:171863
Allan-Herndon-Dudley Syndrome	Failure to thrive in infancy, Small for gestational age, Polyhydramnios, Ataxia, Short stature, D...	ORPHA:59
3-Methylglutaconic Aciduria, Type Ix	Clonus, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, Choreoathetosis, Hypertonia, Spasticity,...	OMIM:617698
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Vertigo, Chor...	ORPHA:25
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Optic atrophy, Dystonia,...	ORPHA:330050
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Short stature, Tremor, Brain atrophy, Decreased body weight, Hearing impairment	OMIM:278760
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:614895
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l...	ORPHA:100989
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Sensorineural hearing impairmen...	ORPHA:255210
Developmental And Epileptic Encephalopathy 1	Delayed CNS myelination, Spastic tetraparesis, EEG with burst suppression, Abnormal pyramidal sig...	OMIM:308350
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Porphyria, Acute Hepatic	Respiratory paralysis, Failure to thrive, Paresthesia, Paralysis	OMIM:612740
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l...	ORPHA:100999
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Dementia, Tongue fasciculations, Myoclonus, Frequent falls	OMIM:159950
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det...	OMIM:300894
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ...	OMIM:618088
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
X-Linked Creatine Transporter Deficiency	Ataxia, Aganglionic megacolon, Cachexia, Short stature, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Lower limb spasticity, Parkinsonism, Tremor, Abnormal fear-induced behavior, Irri...	ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica...	OMIM:619386
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Short stature	OMIM:613312
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Decreased numbe...	ORPHA:99949
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Developmental And Epileptic Encephalopathy 78	Chorea, Cerebral palsy, Spasticity, CNS hypomyelination	OMIM:618557
Cockayne Syndrome B	Severe short stature, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evo...	OMIM:133540
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, Rigidity, Dementia, Cognitive impairment	OMIM:603472
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Short stature, Clonus, Spastic tetraparesis, Sensorineural hearing impairment,...	ORPHA:423479
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Spasticity, Myoclonus	OMIM:618201
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Tremor, Sensorineural hearing impairment, Hypertonia, Cerebral cortical atrophy	ORPHA:1192
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo...	OMIM:607060
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria	ORPHA:251274
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Optic atrophy, Ab...	OMIM:618249
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn...	OMIM:611584
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Polyhydramnio...	OMIM:193700
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Glios...	OMIM:221820
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Hypermanganesemia With Dystonia 2	Limb dystonia, Generalized dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, ...	OMIM:617013
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Brain Dopamine-Serotonin Vesicular Transport Disease	Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas...	ORPHA:352649
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Failure to thrive, Lower limb spasticity, Ataxia, Tremor, Po...	ORPHA:90321
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short stature, Tremor, Sensorineural hearing impairment, Protruding ear, Brain atrophy, Decreased...	OMIM:618342
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal loss, Gliosis, Myoclonu...	OMIM:221770
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Dysto...	ORPHA:225147
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual ...	OMIM:109150
Kanzaki Disease	Peripheral axonal neuropathy, Lymphedema, Vertigo, Axonal degeneration, Sensorineural hearing imp...	OMIM:609242
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Cerebellar gliosi...	ORPHA:35069
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Anteverted ears, Tremor, Poor coordination, Abnormality of pain sensation, Macrotia	ORPHA:544254
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Fasciculations, Brain ...	OMIM:620327
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Short stature, Tremor, Chorea, Cerebral atr...	OMIM:615356
Systemic Lupus Erythematosus 17	Chorea, Myelitis	OMIM:301080
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Delayed CNS myelination, Brain atrophy, Hearing impairment	OMIM:620114
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paroxysmal verti...	ORPHA:99857
Sialidosis Type 1	Ataxia, Short stature, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairm...	ORPHA:812
Snijders Blok-Fisher Syndrome	Delayed CNS myelination, Cupped ear, Opisthotonus, Choreoathetosis, Protruding ear, Spasticity	OMIM:618604
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Cockayne Syndrome A	Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Abnor...	OMIM:216400
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Abnormal myelination, Small for gestational age, Chorea, D...	ORPHA:404454
Spinocerebellar Ataxia Type 3	Abnormal vestibular function, Abnormal pyramidal sign, Vocal cord paralysis, Clumsiness, Progress...	ORPHA:98757
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, EEG abnormality, Hyperkinetic movements, Dystonia...	OMIM:618218
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Edema, Rigidity, Delayed myelination, Bab...	OMIM:617527
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Japanese Encephalitis	Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res...	ORPHA:79139
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc...	ORPHA:87
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal ed...	OMIM:106100
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Short stature, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmet...	OMIM:614381
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Short stature, Impaired pain sensation, Hypsarrhythmia, Anterior creases of ea...	ORPHA:314389
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Pulsatile tinnitus, Glomus tympanicum paraganglioma, Vocal cord paralysis, C...	OMIM:601650
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Macrotia	ORPHA:457240
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Abnormality ...	ORPHA:1947
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio...	ORPHA:69076
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo...	OMIM:614959
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Xerostomia, S...	OMIM:618527
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia	OMIM:614820
Nasu-Hakola Disease	Oculomotor apraxia, Chorea, Cerebral cortical atrophy, Spasticity	ORPHA:2770
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis	OMIM:617219
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystonia, Mental ...	OMIM:616840
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Jaberi-Elahi Syndrome	Appendicular spasticity, Tremor, Optic atrophy, Dysmetria, Protruding ear, Choreoathetosis, Gait ...	OMIM:617988
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:168600
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si...	OMIM:616505
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Sensorineural hearing impairment, Optic ...	ORPHA:99956
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spastici...	OMIM:210000
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abnormal pinna morphology, Short stature, Tremor, Gait ataxia, Abdominal obesity, Delayed puberty...	OMIM:300354
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Polyhydramnios, Dehydration	OMIM:616069
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Parkinsonism w...	OMIM:311510
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Galactosemia I	Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve...	OMIM:230400
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br...	OMIM:618877
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Neurodegeneration, Gliosis, Spasticity, N...	OMIM:616239
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, A...	ORPHA:204
Sneddon Syndrome	Tremor, Lymphopenia, Mental deterioration, Hemiplegia	OMIM:182410
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psychomotor deterio...	ORPHA:363400
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Sensorineural hearing impairment, Vocal cord paralysis, Clumsiness, Ankle c...	OMIM:211530
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Cerebellar gliosis, Delayed myelination, Abnormal pyramidal sign, Dehydration, CN...	ORPHA:3008
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Optic atrophy, Limb ataxia, Choreoathetosis, Growth delay, Dystonia...	OMIM:617595
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Short stature, Abnormal auditory evoked potentials	OMIM:109120
Foxg1 Syndrome	Short stature, Delayed myelination, Choreoathetosis, Severe postnatal growth retardation, Hyperki...	ORPHA:561854
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Spinocerebellar tract disease in lower limbs, Corpus callosum atrophy, Sensor...	OMIM:248500
Spinocerebellar Ataxia 2	Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine...	OMIM:183090
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ...	OMIM:617281
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment	ORPHA:207
Dend Syndrome	Thickened ears, Dehydration, Hypsarrhythmia	ORPHA:79134
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Tremor, Sensorineur...	ORPHA:447753
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ...	OMIM:277900
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atro...	OMIM:617710
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Harlequin Ichthyosis	Hearing abnormality, Dehydration	ORPHA:457
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Sensorineural hearing impairment, Hearing impairment	ORPHA:494
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Dehydration	OMIM:251850
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Cerebellar gliosis, EEG with focal sharp waves, Cerebral atrop...	ORPHA:79243
Stiff Person Spectrum Disorder	Rigidity, Emotional lability, Exaggerated startle response	ORPHA:3198
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Oligomeganephronia	Optic disc coloboma, Small for gestational age, Dehydration, Hearing impairment	ORPHA:2260
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Menta...	OMIM:614298
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Bilateral sensorineural hearin...	ORPHA:397744
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas...	ORPHA:240071
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:614831
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hyper...	OMIM:614969
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Titu...	ORPHA:280219
Progressive Supranuclear Palsy	Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairment, Dyston...	ORPHA:683
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dystonia, Spasticity	OMIM:617435
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Hypertonia, Dementia	OMIM:272800
Schwannomatosis, Vestibular	Astrocytoma, Ataxia, Bilateral vestibular schwannoma, Vertigo, Ependymoma, Peripheral schwannoma,...	OMIM:101000
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrop...	OMIM:614498
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Mogs-Cdg	Absent brainstem auditory responses, Pulmonary edema, Polyhydramnios, Edema, Sensorineural hearin...	ORPHA:79330
Developmental And Epileptic Encephalopathy 4	Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple...	OMIM:612164
Peho Syndrome	Cerebellar atrophy, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Optic atrop...	OMIM:260565
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, EEG abnormal...	ORPHA:480898
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Hypophosphatemia, Renal tubular dysfunction, Ami...	ORPHA:213
Alexander Disease	Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, EEG abnormali...	ORPHA:58
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Cognitive impairment	ORPHA:36387
Osteootohepatoenteric Syndrome	Weight loss, Failure to thrive, Dehydration, Hearing impairment	OMIM:619377
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor ap...	ORPHA:529665
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Short stature, Tremor, Dysmetria, Growth delay, P...	ORPHA:502423
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spa...	OMIM:618369
Tryptophanuria With Dwarfism	Severe short stature, Tryptophanuria	OMIM:276100
Warsaw Breakage Syndrome	Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Intraut...	OMIM:613398
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, EEG abnormality, Gl...	OMIM:614946
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Spasticity, Gait ataxia, Dysdiadoc...	ORPHA:247234
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypertonia	ORPHA:163985
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Crania...	ORPHA:276621
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Wolfram Syndrome 1	Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Growth delay	OMIM:222300
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
4Q21 Microdeletion Syndrome	Tremor, Growth delay, Low-set ears, Intrauterine growth retardation, Hearing impairment	ORPHA:238750
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Edema, Spastic hemiparesis, Dehydration, Hypsarrhythmia, Weight loss, EEG abnormality, My...	ORPHA:20
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Cerebral atrophy, Truncal ataxia	ORPHA:369847
Severe Oculo-Renal-Cerebellar Syndrome	Short stature, Optic atrophy, Spastic diplegia, Choreoathetosis, Large earlobe, Spasticity, Macrotia	ORPHA:2715
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked po...	ORPHA:168491
Aceruloplasminemia	Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Ch...	ORPHA:48818
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Decreased amplitude of se...	ORPHA:2388
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Syringomyelia, Dyston...	ORPHA:261197
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy, Spastic paraplegia...	OMIM:609541
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod...	OMIM:312170
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Delayed CNS myelination, Abnormal pinna morphology, Small for gestational age...	OMIM:615471
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears	OMIM:617301
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:99880
Holoprosencephaly	Failure to thrive in infancy, External ear malformation, Chorea, Optic atrophy, Spinal cord tumor...	ORPHA:2162
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Atypical Rett Syndrome	Involuntary movements, Impaired pain sensation, Tremor, Limb myoclonus, Gait ataxia, Pill-rolling...	ORPHA:3095
Metachromatic Leukodystrophy	Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Decerebrate rigidity, Progre...	ORPHA:512
Proximal 16P11.2 Microduplication Syndrome	Short stature, Tremor, Microtia, Failure to thrive, Decreased body mass index	ORPHA:370079
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Incoordination, Short stature, Poor fine motor coordination, Undetectable visua...	ORPHA:436245
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Small for gestational age, Short stature, EEG with multifocal slow acti...	ORPHA:289266
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t...	ORPHA:199351
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Hydrops fetalis, Abnormality of extrapyra...	ORPHA:79255
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Polyhydramnios, Synotia, Narrow internal auditory canal, Abnor...	ORPHA:990
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Myoclonus, Dystonia, ...	OMIM:168601
Developmental And Epileptic Encephalopathy 46	Tremor, Cerebral atrophy, Hypsarrhythmia, Failure to thrive, Limb hypertonia	OMIM:617162
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ...	OMIM:169500
Developmental And Epileptic Encephalopathy 3	EEG with burst suppression, Delayed myelination, Cerebral atrophy, Brain atrophy, Abnormality of ...	OMIM:609304
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:143
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Predominantly lower limb lymphedema, Ataxia, Sensorineural he...	ORPHA:314404
Saethre-Chotzen Syndrome	Short stature, Prominent crus of helix, External ear malformation, Sensorineural hearing impairme...	ORPHA:794
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Secondary Short Bowel Syndrome	Aganglionic megacolon, Dehydration, Weight loss, Growth delay, Failure to thrive	ORPHA:95427
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Dystonia	OMIM:168605
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Delayed myelination, EEG with focal sharp waves, Choreoathetosis, EEG abnormality...	ORPHA:522077
Dermotrichic Syndrome	Aminoaciduria, Proportionate short stature	ORPHA:99688
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration	OMIM:212140
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxi...	OMIM:602481
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Myopathy, Mitochondrial, And Ataxia	Ataxia, Short stature, Tremor, Limb ataxia, Dysmetria, Distal sensory impairment, Growth delay, D...	OMIM:617675
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear...	ORPHA:50815
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Overweight, ...	OMIM:619229
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Chronic Bilirubin Encephalopathy	Cerebral palsy, Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials	ORPHA:529799
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Abnormal posturing, Failure to thrive, Cerebral atrophy	OMIM:614857
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Beta-Ketothiolase Deficiency	Ataxia, Edema, Dehydration, Weight loss, Extrapyramidal dyskinesia, Spasticity	ORPHA:134
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor	ORPHA:713
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Pearson Syndrome	Small for gestational age, Ataxia, Postnatal growth retardation, Hydrops fetalis, Dehydration, Co...	ORPHA:699
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Gait ataxia, Choreoathetosis, Opisthotonus, ...	OMIM:619580
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Dehydration, Abnormal autono...	ORPHA:94093
Aceruloplasminemia	Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto...	OMIM:604290
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia...	OMIM:612936
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Pandas	Chorea, Clumsiness	ORPHA:66624
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Frontal lob...	ORPHA:97355
Ataxia-Telangiectasia	Ataxia, Tremor, Cognitive impairment, Spasticity, Lymphopenia	ORPHA:100
Adrenal Hypoplasia, Congenital	Hyponatremia, Delayed puberty, Renal salt wasting	OMIM:300200
Episodic Ataxia Type 1	Cerebellar atrophy, Vertigo, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia	ORPHA:37612
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating ...	OMIM:620366
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ataxia, Increased mean platelet volume	OMIM:616737
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur...	OMIM:613404
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Limb...	OMIM:229300
Micro Syndrome	Low-set, posteriorly rotated ears, Short stature, Optic atrophy, Delayed puberty, Abnormality of ...	ORPHA:2510
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Short stature, Tremor, Macrotia, Optic atrophy, Hydrops fetalis, We...	ORPHA:354
Trisomy 10P	Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, Poor mo...	ORPHA:171929
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Dehydration, Weight loss	ORPHA:92050
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Tethered cord, Short stature, Sensorineural hearing impairment, Spinal dysraphism, Incomplete par...	OMIM:617660
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Chorea	OMIM:616744
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Slender build, Myoclonus	OMIM:617600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Dementia, Oculomotor apraxia	ORPHA:240094
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Ataxia, Short stature, Postnatal growth retardation, Sensorineural ...	ORPHA:96180
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Cerebral atrophy, D...	ORPHA:572798
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me...	OMIM:615530
Glossopharyngeal Neuralgia	Dysesthesia, Ear pain, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, ...	ORPHA:221098
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Small for gestational age, Cerebral atrophy, Hyperto...	OMIM:615095
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia...	ORPHA:2828
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	External ear malformation, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Short stature, Babinski sign, Truncal obesity, Lower...	OMIM:301072
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:604218
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Postnatal growth retardation, Abnormal pyramidal sign, Progressive hearing impairment, Dy...	ORPHA:453533
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular...	OMIM:307800
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Methylmalonyl-Coa Epimerase Deficiency	Spasticity, Failure to thrive, Dehydration	OMIM:251120
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of...	ORPHA:369837
Pettigrew Syndrome	Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosis, Spasticity, High-f...	OMIM:304340
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Growth delay, Neonatal death, Low-set ears, Intention ...	OMIM:614052
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Crania...	ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal ...	ORPHA:83597
Developmental And Epileptic Encephalopathy 100	Delayed CNS myelination, Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia...	OMIM:619777
Leukodystrophy, Hypomyelinating, 4	Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity, Leuk...	OMIM:612233
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Dopamine Beta-Hydroxylase Deficiency	Vertigo, Dehydration, Orthostatic hypotension	ORPHA:230
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypoammonemia, Pro...	ORPHA:534
Variegate Porphyria	Paralysis	OMIM:176200
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin...	OMIM:168000
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Charge Syndrome	Low-set, posteriorly rotated ears, Short stature, Facial palsy, Hearing impairment, Polyhydramnio...	ORPHA:138
Mcleod Syndrome	Chorea, Dystonia, Motor axonal neuropathy, Impaired vibration sensation at ankles	OMIM:300842
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Short stature, Titubation, Gliosis, Abnormal myelination, Cerebral...	ORPHA:280210
White-Sutton Syndrome	Delayed CNS myelination, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Sensori...	OMIM:616364
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h...	OMIM:615905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Noonan Syndrome	Low-set, posteriorly rotated ears, Short stature, Lymphedema, Aplasia of the semicircular canal, ...	ORPHA:648
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Delayed CNS myelination, Failure to thrive, Dehydration	OMIM:251000
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Astrocytoma, Glioma, Facial palsy, Bilateral vestibular schwannoma, ...	ORPHA:637
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Insulinoma	Tremor, Hearing abnormality, Increased body weight, Paresthesia, Abnormality of pain sensation, N...	ORPHA:97279
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Mental deterioration, Gait ataxia, Normochromic anemia, Myoclonus, Intention tre...	OMIM:254900
Monosomy 18Q	Astrocytoma, Short stature, Sensorineural hearing impairment, Macrotia, Poor coordination, Choreo...	ORPHA:1600
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Corpus callosum atrophy, Tremor, Babinski sign, Impaired distal vibration sensatio...	OMIM:616586
Methylmalonic Aciduria, Cbla Type	Tremor, Failure to thrive, Dehydration	OMIM:251100
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Sensorineural hearing impairment, M...	OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ataxia, Short stature, Polyhydramnios, Tremor, Gait ataxia, Protruding ear, Growth delay, Absent ...	OMIM:300998
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Xerostomia, Neurodegeneration, Sp...	ORPHA:803
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Dyst...	OMIM:616875
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Short stature, EEG with spike-wave complexes, Spastic t...	ORPHA:2203
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Nipah Virus Disease	Tremor, Vertigo, Myoclonus	ORPHA:99825
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Growth delay, Low-set ears, Abnormal myelination, Intrauterine growth retardation	OMIM:617333
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Edema, Tr...	ORPHA:254892
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper...	ORPHA:542323
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Abnormal earlobe morphology, Dehydration, Intrauterine growth retar...	ORPHA:96191
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocyt...	OMIM:274150
Benign Schwannoma	Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the...	ORPHA:252164
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, ...	OMIM:619653
Warburg Micro Syndrome 2	Asymmetry of the ears, Postnatal growth retardation, Optic atrophy, Spastic diplegia, Undetectabl...	OMIM:614225
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Choreoathetosis, Low-set ears, Macrotia, Cerebral cortical atrophy	OMIM:619603
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Edema, Weight loss	ORPHA:103910
Generalized Pseudohypoaldosteronism Type 1	Proportionate short stature, Failure to thrive in infancy, Dehydration, Weight loss	ORPHA:171876
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype...	OMIM:557000
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper...	ORPHA:653
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Lissencephaly, X-Linked, 2	Spasticity, Gliosis, Low-set ears	OMIM:300215
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ...	OMIM:613179
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Polyhydramnios, Optic atrophy, Vocal cord paralysis, Hypsarrhythmia, Increased cup-to-disc ratio,...	ORPHA:500144
Vici Syndrome	Postnatal growth retardation, Sensorineural hearing impairment, Low-set ears, Abnormal posturing,...	OMIM:242840
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Zttk Syndrome	Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth delay, Intrauterine ...	OMIM:617140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Posteriorly rotated ears, Polyhydramnios, Large for gestational age, Tremor, ...	OMIM:614080
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, CN...	OMIM:268800
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Tremor, Obesity, Recurrent o...	OMIM:619680
Isovaleric Acidemia	Dehydration	OMIM:243500
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Irritability, Hypertonia	ORPHA:1578
Wolcott-Rallison Syndrome	Short stature, Dehydration, Growth delay, Decreased body weight, Ascites	ORPHA:1667
Leprechaunism	Postnatal growth retardation, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increase...	ORPHA:508
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Short stature	OMIM:249270
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Ataxia, Tremor, Postnatal growth retardation, Spastic diplegia, Spasticity, P...	OMIM:300966
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Short stature, Renal dysplasia	OMIM:300990
Joubert Syndrome	Ataxia, Aganglionic megacolon, Tremor, Low-set ears, Oculomotor apraxia	ORPHA:475
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast...	OMIM:203700
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar...	ORPHA:485421
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Muscular edema, Brachial plexus neuropathy, Chorea	ORPHA:268
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly	ORPHA:309155
Mpdu1-Cdg	Optic atrophy, Absence of acoustic reflex, Hypsarrhythmia, Undetectable visual evoked potentials,...	ORPHA:79323
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Truncal ataxia	ORPHA:369840
Poliomyelitis	Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Paresth...	ORPHA:2912
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Cognitive impairment, Increased mean platelet volume	OMIM:222470
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Lymphedema, Overweig...	ORPHA:2822
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia	ORPHA:220497
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Optic atrophy, CNS h...	OMIM:617193
Serotonin Syndrome	Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D...	ORPHA:43116
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
X-Linked Intellectual Disability, Cabezas Type	Short stature, Cachexia, Tremor, Abnormal earlobe morphology, Obesity, EEG abnormality	ORPHA:85293
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ...	ORPHA:431361
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ...	ORPHA:340
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro...	OMIM:214500
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Pulsatile tinnitus, Vocal cord paralysis, Adrenal pheochromocytoma...	OMIM:605373
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cerebral edema, Cervical myelopathy, Tetrapare...	OMIM:617186
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Involuntary movements, Orthostatic tachycardia, Rigid...	ORPHA:217253
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Edema, Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration...	OMIM:619574
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Short stature, Renal hypophosphatemia, Renal p...	ORPHA:289176
Dpagt1-Cdg	EEG with generalized slow activity, Ataxia, Tremor, Optic atrophy, Hypsarrhythmia, CNS hypomyelin...	ORPHA:86309
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Failure to thrive, Dehydration	OMIM:615453
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Sensorineural hearing impairment...	OMIM:252010
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Short stature, Postnatal growth retardation, Progressive hearing impairment, Dystonia	OMIM:616113
Rheumatic Fever	Hemiballismus, Chorea, Fasciculations	ORPHA:3099
Mend Syndrome	Short stature, Abnormal auditory evoked potentials, Low-set ears, Failure to thrive, Limb hypertonia	ORPHA:401973
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Mild postnatal growth retardation, Demyelinating...	ORPHA:90324
Netherton Syndrome	Short stature, Dehydration	ORPHA:634
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231580
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Mental deterioration, Memory impairment	ORPHA:79095
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia	ORPHA:220493
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Ataxia, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Tremor, Macro...	OMIM:212065
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Delayed CNS myelination, Spastic tetraplegia, Growth delay, Brain atrophy, Abnormality of visual ...	OMIM:614457
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Choreoathetosis, Ataxia, Cholesteatoma, Dystonia	OMIM:610978
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Polyhydramnios, Fetal ascites, Decreased nerve conduction velocity, Corpus ca...	OMIM:261515
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Xeroderma Pigmentosum, Complementation Group A	Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Choreoathetosis, Spasticity	OMIM:278700
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets	OMIM:163200
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Cerebral dysmyelination, ...	ORPHA:191
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting...	ORPHA:95409
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Snakebite Envenomation	Edema, Paralysis, Angioedema, Pseudobulbar paralysis, Respiratory paralysis	ORPHA:449285
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Methyl...	OMIM:612073
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuria	ORPHA:361
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Low-set ears, P...	ORPHA:37553
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Ataxia, Short stature, Babinski sign, Optic atrophy, Abnormal autonomic ...	OMIM:231550
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Short stature, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticoster...	ORPHA:90795
Kleefstra Syndrome Due To A Point Mutation	Short stature, Uplifted earlobe, Large for gestational age, Gliosis, Failure to thrive, Hearing i...	ORPHA:261652
Norrie Disease	Failure to thrive, Clonus, Cachexia, Sensorineural hearing impairment, Optic atrophy, Protruding ...	ORPHA:649
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Paralysis, Sensorineural hearing impairment, Spastic paraplegia, Limb atax...	ORPHA:2072
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231625
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Ataxia, Short stature, Tremor, Growth delay, Conductive hearin...	ORPHA:2754
Ataxia-Telangiectasia	Ataxia, Tremor, Slurred speech, Acute lymphoblastic leukemia, T lymphocytopenia, Choreoathetosis,...	OMIM:208900
Isotretinoin-Like Syndrome	Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t...	ORPHA:2306
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria	ORPHA:220393
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Hypoka...	OMIM:617913
Joubert Syndrome With Hepatic Defect	Ataxia, Tremor, Optic disc coloboma, Low-set ears, Oculomotor apraxia	ORPHA:1454
Spondyloenchondrodysplasia	Chorea, Short stature, Spasticity, Disproportionate short-trunk short stature	ORPHA:1855
Glutaric Acidemia I	Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr...	OMIM:231670
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Failure to thrive in infancy, Ependymoma, Vocal...	ORPHA:798
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Kallmann Syndrome	Ataxia, Tremor, Sensorineural hearing impairment, Obesity, Paraplegia, Delayed puberty	ORPHA:478
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, Weight loss, Brain atrophy	OMIM:164310
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Gabriele-De Vries Syndrome	Delayed CNS myelination, Posteriorly rotated ears, Tremor, Low-set ears, Dystonia, Intrauterine g...	OMIM:617557
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Ependymoma, Dehydration, Weigh...	ORPHA:652
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Short stature, Tremor, Postnatal growth retardation, Optic atrophy, Abnormal pyramidal si...	OMIM:612199
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Spa...	ORPHA:445038
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Irritability, Emotional lability	OMIM:201100
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Duane Retraction Syndrome	External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Blepharospasm,...	ORPHA:233
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype...	ORPHA:116
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Sensorineural hearing impairment, Cerebral atrophy, Growth delay, Hypertonia, Dys...	OMIM:617248
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P...	ORPHA:90791
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, EEG with spike-wave complexes, Tremor, EEG with bur...	ORPHA:1934
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Hypertonia, Short stature, Cachexia	ORPHA:1389
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Failure to thrive, Polyhydramnios, Dehydration	OMIM:214700
Autosomal Recessive Malignant Osteopetrosis	Tremor, Growth delay, Otitis media, Abnormality of visual evoked potentials, Optic nerve compress...	ORPHA:667
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Cerebral edema, Paralysis	ORPHA:83601
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Rigidity, Weight loss, Bradykinesia, Gliosis, Dystonia, Parkinsonis...	ORPHA:411602
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Polyhydramnios, Large for gestational age, Delayed myelination, Hydrops fe...	OMIM:300868
Hallermann-Streiff Syndrome	Small for gestational age, Spina bifida, Proportionate short stature, Optic disc coloboma, Choreo...	OMIM:234100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Cerebral atrophy, EEG abnormality, Gliosis, ...	OMIM:124000
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axon...	OMIM:252160
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Megaloblastic anemia, Tremor, Dementia, Abnormality of extrapyramidal motor function, ...	OMIM:277400
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Sensorineural hearing impairment, Ataxia, Spasticity	OMIM:278730
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr...	ORPHA:168558
Lassa Fever	Oliguria	ORPHA:99824
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ...	ORPHA:544482
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr...	ORPHA:289548
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Sensorineural hearing impairment, Cerebral atrophy, Choreoathetosis, Growth delay, Hypertonia, Hy...	ORPHA:17
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Ataxia, Parkinsonism, Tremor, Thrombocytopenia, Sple...	ORPHA:167
D-Glyceric Aciduria	Growth delay, Aminoaciduria, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Short stature, Low-set ears, Periodic paralysis	OMIM:170390
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Abnormal r...	OMIM:194050
Hyperoxaluria, Primary, Type I	Optic atrophy, Optic neuropathy, Dehydration	OMIM:259900
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro...	OMIM:601104
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Dystonia, Parkinsonism, Rigidity, Optic atrophy, Leg dystonia, Slurred spe...	ORPHA:157850
Aicardi-Goutières Syndrome	Dystonia, Extrapyramidal muscular rigidity, Short stature, Tremor, Hemiplegia/hemiparesis, Abnorm...	ORPHA:51
Glioblastoma	Glioblastoma multiforme, Cerebral edema, Paralysis	ORPHA:360
Catastrophic Antiphospholipid Syndrome	Chorea	ORPHA:464343
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Pseudohypoparathyroidism Type 1A	Short stature, Involuntary movements, Spinal cord compression, Sensorineural hearing impairment, ...	ORPHA:79443
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Delayed CNS myelination, Short stature, CNS hyp...	OMIM:618367
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia...	OMIM:615512
Legius Syndrome	Short stature, Neurofibroma, Vestibular schwannoma, Optic nerve glioma, Dystonia, Hearing impairment	ORPHA:137605
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia, Neonatal deat...	OMIM:619055
Osteogenesis Imperfecta	Rhizomelia, Short stature, Hypercalciuria, Nephrolithiasis, Growth delay, Intrauterine growth ret...	ORPHA:666
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Polyuria	OMIM:606721
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations	OMIM:608800
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Short stature, Tremor, Optic atrophy, Obesity, Abnorma...	OMIM:614947
Renal Hypoplasia	Small for gestational age, Dehydration	ORPHA:93101
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Charge Syndrome	Mixed hearing impairment, Facial palsy, Polyhydramnios, Aplasia of the semicircular canal, Postna...	OMIM:214800
Shigellosis	Failure to thrive in infancy, Dehydration	ORPHA:810
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Primary Sjögren Syndrome	Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abnormal spinal cord m...	ORPHA:289390
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Small for gestational age, Ataxia, Tremor, Dysmetria, Gliosis, Low-set ears, Truncal at...	OMIM:220111
Brucellosis	Small for gestational age, Abnormality of the peripheral nervous system, Chorea, Weight loss, Ple...	ORPHA:1304
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Hemiparesis, Nonarteritic anterior ischemic optic neuropathy, Pseudobulbar paralysis, Abnormality...	OMIM:125310
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Dehydration, Weight loss, Ascites	ORPHA:275761
Cystic Fibrosis	Hypercalciuria	OMIM:219700
Gitelman Syndrome	Paralysis, Pericardial effusion, Vertigo, Paresthesia, Delayed puberty, Failure to thrive, Tinnitus	ORPHA:358
Papillorenal Syndrome	Short stature, Edema, Sensorineural hearing impairment, Optic disc coloboma, Gliosis	OMIM:120330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrauterine growth retardation, Aminoaciduria, Elevated circulating long chain fatty acid concen...	OMIM:214110
Rift Valley Fever	Paralysis, Paraparesis, Vertigo, Macular edema, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ...	ORPHA:731
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axonal l...	OMIM:252150
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con...	ORPHA:319213
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Growth delay	OMIM:616084
Pseudohypoaldosteronism Type 2	Growth delay, Short stature, Periodic paralysis	ORPHA:757
Addison Disease	Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Incre...	ORPHA:85138
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure	ORPHA:90051
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia	OMIM:258480
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ...	OMIM:207900
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Failure to thrive in infancy, Small for gestational age, Ataxia, Short stature, Oligohydramnios, ...	ORPHA:268261
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Hypertonia, Spasticity	OMIM:616539
Sarcoidosis	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointe...	ORPHA:797
Woodhouse-Sakati Syndrome	Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of extrapyramidal ...	OMIM:241080
Lysinuric Protein Intolerance	Short stature, Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidne...	OMIM:222700
Vipoma	Ascites, Ganglioneuroma, Dehydration, Weight loss	ORPHA:97282
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Fusion of m...	OMIM:157800
Netherton Syndrome	Hypernatremic dehydration, Angioedema, Failure to thrive	OMIM:256500
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations	ORPHA:682
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coord...	ORPHA:309854
Menkes Disease	Intrauterine growth retardation, Chorea, Hypertonia, Spasticity	ORPHA:565
Sarcoidosis, Susceptibility To, 1	Hypercalciuria	OMIM:181000
Foodborne Botulism	Cerebral palsy, Xerostomia, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy	OMIM:253800
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Spinal Arteriovenous Metameric Syndrome	Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Microsporidiosis	Dehydration, Cachexia, Weight loss	ORPHA:2552
Mccune-Albright Syndrome	Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hypophosphatemia	ORPHA:562
Gabriele-De Vries Syndrome	Small for gestational age, Posteriorly rotated ears, Tremor, Delayed myelination, Gliosis, Low-se...	ORPHA:506358
Severe Generalized Junctional Epidermolysis Bullosa	Growth delay, Failure to thrive, Edema, Dehydration	ORPHA:79404
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Gaisböck Syndrome	Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r...	ORPHA:90041
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Woodhouse-Sakati Syndrome	Protruding ear, Choreoathetosis, Growth delay, Bilateral sensorineural hearing impairment, Dyston...	ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Small for gestational age, Ataxia, Short stature, Voca...	OMIM:617799
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Failure to thrive	ORPHA:223
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Marburg Hemorrhagic Fever	Dysesthesia, Dehydration	ORPHA:99826
Ichthyosis, Congenital, Autosomal Recessive 2	Growth delay, Paralysis	OMIM:242100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Astrocytosis, Pontocerebellar atrophy, Decreased body weight, Abnormality of visual...	ORPHA:258
Solitary Bone Cyst	Abnormal spinal cord morphology, Muscular edema	ORPHA:83468
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epine...	ORPHA:90794
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Tethered cord, Posteriorly rotated ears, Short stature, Growth dela...	OMIM:619522
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Inhalational Botulism	Xerostomia, Paralysis	ORPHA:254504
Amoebiasis Due To Free-Living Amoebae	Ataxia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Cerebral edema	ORPHA:68
Diets-Jongmans Syndrome	Short stature, Polyhydramnios, Gliosis, Long ear, Hearing impairment	OMIM:618846
Cranioectodermal Dysplasia 1	Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubu...	OMIM:218330
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Mosaic Trisomy 20	Intrauterine growth retardation, Abnormal spinal cord morphology, Hearing impairment	ORPHA:1724
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Tremor, Vertigo, Weight loss, Delayed puberty, Periodic hypokalemic paresis	ORPHA:91347
Supranuclear Palsy, Progressive, 2	Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Granulovacuolar degenera...	OMIM:609454
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ...	OMIM:606812
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Intrauterine growth retardation, Delayed puberty	ORPHA:3121
Degcags Syndrome	Failure to thrive, Posteriorly rotated ears, Small for gestational age, Polyhydramnios, Sensorine...	OMIM:619488
Feingold Syndrome 1	Posteriorly rotated ears, Polyhydramnios, Vocal cord paralysis, Low-set ears, Hearing impairment	OMIM:164280
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Stargardt Disease	Abnormality of visual evoked potentials	ORPHA:827
Oculocutaneous Albinism Type 1	Abnormality of visual evoked potentials	ORPHA:352731
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:99829
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Short stature, Galactosuria	ORPHA:85276
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Short stature, Involuntary movements, Delayed my...	ORPHA:438213
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression, Short stature	OMIM:259730
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Interstitial Lung And Liver Disease	Aminoaciduria, Hyperammonemia	OMIM:615486
Systemic Lupus Erythematosus	Chorea	ORPHA:536
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Tyrosinemia, Type I	Growth delay, Ascites, Failure to thrive, Periodic paralysis	OMIM:276700
Tetrasomy 9P	Intrauterine growth retardation, Abnormal spinal cord morphology, Glue ear, Abnormal earlobe morp...	ORPHA:3310
Liver Disease, Severe Congenital	Hyperalaninemia, Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulat...	OMIM:619991
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Oculomotor apraxia, Short stature, Abnormal myelination	ORPHA:67045
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials, Weight loss	ORPHA:79430
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Abnormal myelination	ORPHA:434179
Oculocutaneous Albinism Type 1A	Abnormality of visual evoked potentials	ORPHA:79431
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic...	ORPHA:51608
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369

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 Kcnj10

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 Kcnj10.

No publications found that use IMPC mice or data for Kcnj10.

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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
Kcnj10^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Kcnj10^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Kcnj10^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Kcnj10 MGI:1194504

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

Echo

X-ray

MicroCT E18.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Kcnj10 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data