Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 10
Synonyms:
Kir1.2,  BIR10,  Kir4.1,  BIRK-1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Kcnj10tm1b(KOMP)Wtsi HET   Early adult 7.49×10-05
decreased basophil cell number Kcnj10tm1b(KOMP)Wtsi HET Early adult 6.14×10-05
increased startle reflex Kcnj10tm1b(KOMP)Wtsi HET Early adult 4.76×10-09
tremors Kcnj10tm1b(KOMP)Wtsi HET Early adult 9.22×10-05
preweaning lethality, complete penetrance Kcnj10tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased mean platelet volume Kcnj10tm1b(KOMP)Wtsi HET Early adult 6.53×10-26

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Echo

M-Mode Images

32 Images

MicroCT E18.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Polyuria, Hypercalcemia, N... OMIM:616963
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia OMIM:154020
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Idiopathic Hypercalciuria
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... ORPHA:2197
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Postural tremor, Dementia, Progressive cerebellar ataxia, Memory impairment ORPHA:85292
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebellar vermis atrophy, Optic atrophy, Choreoathetosis, Spastic parapleg... OMIM:312080
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Sensorineural heari... OMIM:302800
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Memory impairment, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor n... ORPHA:401901
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Short stature, Hypophosphatemia, Elevated circulating creati... OMIM:300555
Bartter Syndrome, Type 3
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... OMIM:607364
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hemiplegia, At... OMIM:614561
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Impaired vibration sensation at ankles, Abnormality of peripheral nerve conduction, ... ORPHA:90103
Threoninemia
Hyperthreoninemia, Hyperthreoninuria, Growth delay OMIM:273770
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Saccharopinuria
Hyperlysinuria, Short stature, Histidinuria, Elevated circulating sacchoropine concentration, Sac... OMIM:268700
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria OMIM:145980
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor OMIM:611105
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Tremor, Anxiety, Agoraphobia, Panic attack OMIM:159900
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... ORPHA:79262
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Hypercalc... OMIM:143880
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... OMIM:145981
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Short stature, Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin... OMIM:612780
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... OMIM:618314
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia, Fascicu... ORPHA:309169
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation, Hearing impair... ORPHA:217012
Helix Syndrome
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis OMIM:617671
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Folinic Acid-Responsive Seizures
Chorea, Delayed myelination, Sensorineural hearing impairment, Frontotemporal cerebral atrophy, O... ORPHA:79097
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Ravine Syndrome
Spasticity, Decreased body weight, Abnormal auditory evoked potentials, Ataxia, Failure to thrive... ORPHA:99852
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural h... ORPHA:52368
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... OMIM:600740
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... OMIM:300971
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Dementia, Ataxia, Intention tremor ORPHA:308
Huntington Disease-Like 2
Chorea, Memory impairment, Inertia, Rigidity, Apathy, Dementia, Action tremor, Subcortical dement... OMIM:606438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Optic a... OMIM:609260
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria OMIM:612286
Spinocerebellar Ataxia 50
Chorea, Froment sign, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Hea... OMIM:620158
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener... OMIM:613388
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Autosomal Spastic Paraplegia Type 72
Rigidity, Memory impairment, Spastic gait, Postural tremor ORPHA:401849
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Dist... OMIM:604484
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... OMIM:606966
Schwannomatosis 1
Spinal cord tumor, Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome... OMIM:601198
Arnold-Chiari Malformation Type I
Gait ataxia, Functional abnormality of the inner ear, Somatic sensory dysfunction, Adult onset se... ORPHA:268882
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Somatic sensory dysfunction, Sensorineural hearing impairment, Pare... ORPHA:99947
Gitelman Syndrome
Hypokalemia, Nocturia, Increased circulating renin level, Delayed puberty, Polyuria, Hypocalciuri... OMIM:263800
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Hearing i... OMIM:165300
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia, Mental deterioration OMIM:616187
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Opticocochleodentate Degeneration
Cochlear degeneration, Spastic tetraplegia, Hearing impairment, Optic atrophy OMIM:258700
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Axonal degeneration, Decreased motor nerve conduction veloci... OMIM:614436
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Myelin outfolding... OMIM:601382
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho... ORPHA:405
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Hypomagnesemia 3, Renal
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... OMIM:248250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Demyelinating peripheral neuropathy, Absent br... OMIM:617519
Brunner Syndrome
Low frustration tolerance, Aggressive behavior, Self-injurious behavior, Kinetic tremor OMIM:300615
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Oculomotor apraxia, Per... OMIM:208920
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Optic atrophy, Ataxia, Progressive extrapyramidal movement disorder, Peri... ORPHA:401768
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Distal renal tubular acidosis, Growth delay, Nephrocalcinosis, Hypercalciuria OMIM:602722
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Intrauteri... OMIM:603358
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Short stature, Decreased motor nerve conduction velocity, Peripheral axonal degeneration,... OMIM:604168
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic dysarthria, Abnormal myelinati... ORPHA:401830
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Memory impairment, Cognitive impairment, Parkinsonism, Rigidity, Limb dy... ORPHA:101109
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Cerebral cortical atrophy, Abnormality of the spinocerebellar tracts, Postur... ORPHA:98756
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis, Hypercalciuria OMIM:239199
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Dementia, Anxiety, Dystonia, Bradykinesia OMIM:605909
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Parkinsonism, Hemiplegia/hemiparesis, CNS ... ORPHA:217260
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Motor axonal neuropa... ORPHA:98856
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Neurodegeneration With Brain Iron Accumulation
Chorea, Spasticity, Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Cerebe... ORPHA:385
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... OMIM:605407
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... OMIM:613090
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hearing impairment, Short stature OMIM:312910
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia ORPHA:3233
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Bradykinesia OMIM:610297
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Hypercalciuria, Postnata... OMIM:614732
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Optic atrophy, Myoclonus, Choreoathetosis, Multifocal epileptiform discharg... OMIM:609056
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Carnosinemia
Carnosinuria OMIM:212200
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Axial dystonia, Head tremor, Action tremor... OMIM:604326
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Weight loss, Parkinsonism, Caudate atrophy, Involuntary moveme... ORPHA:98934
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Tiglic Acidemia
Aminoaciduria OMIM:275190
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Tremor by anatomical site, Cognitive impairment, Abnormal pyramidal... ORPHA:98762
Superficial Siderosis
Abnormal pyramidal sign, Paresthesia, Dysdiadochokinesis, Progressive gait ataxia, Abnormal spina... ORPHA:247245
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Cerebral cortical atrophy, Decreased body weight, Abnormal pyramidal sign, Pa... OMIM:617672
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls ORPHA:494526
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Vestibular schwa... OMIM:613641
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Amyotrophy, Hereditary Neuralgic
Short stature, Peripheral axonal degeneration, Brachial plexus neuropathy, Low-set ears, Axonal d... OMIM:162100
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... OMIM:300009
Corticobasal Syndrome
Limb myoclonus, Memory impairment, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myo... ORPHA:454887
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Chorea, Spasticity, Delayed myelination, Cerebral palsy, EEG abnormality, Choreoathetosis, Babins... OMIM:618451
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cognitive impairment, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment, Ataxia OMIM:271250
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Hemiplegia, Tremor, Anxiety OMIM:141500
Phenylketonuria
Aminoaciduria ORPHA:716
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Cerebral cortical atrophy, EEG with generalized... ORPHA:79263
Friedreich Ataxia
Poor fine motor coordination, Gait ataxia, Spasticity, Chorea, Optic atrophy, Impaired visually e... ORPHA:95
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... ORPHA:99879
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Tremor, Irritability, Dystonia, Splen... OMIM:612126
Spinocerebellar Ataxia Type 20
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... ORPHA:101110
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Abnormal autonomic nervous system physiology, Babinski sign, Neuronal loss ... ORPHA:282166
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction v... ORPHA:88628
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Dystonia 12
Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Dystonia, Bradykinesia OMIM:128235
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Abnormality of visual evo... OMIM:601455
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Cerebral cortical atrophy, Optic atrophy, Ataxia, Tremor, Delayed CNS myelination, Ab... OMIM:300983
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... OMIM:613845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Spastic dysarthria, ... ORPHA:95433
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Sensorineural hearing impairment, Brain atrophy, Small for gestational age, ... OMIM:214150
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Axonal degeneration... OMIM:606482
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunct... ORPHA:99
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Polyuria, Hypercalciuria OMIM:613677
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Babinsk... OMIM:615362
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at... OMIM:607136
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ... ORPHA:314632
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Irritabilit... OMIM:261630
Developmental And Epileptic Encephalopathy 17
Chorea, Delayed myelination, Hypsarrhythmia, Cerebral atrophy, Athetosis, Dystonia OMIM:615473
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebellar vermis atrophy, Delayed myelination, Spastic tetraplegia, Appendicular spastic... OMIM:613811
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Short stature, At... ORPHA:1368
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, EEG abnormality, Hemiparesis, Apraxia, Myoclonus, ... ORPHA:71277
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Abnormality of somatosensory evoked potentials, Optic... ORPHA:98755
Camptodactyly 1
Increased urinary taurine OMIM:114200
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Growth delay, Positive ferric chloride test OMIM:229100
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Short stature, Hyperphosphaturia... ORPHA:157215
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Spasticity, Macrotia, Cerebral cortical atrophy, Exaggerated startle response, Spastic te... OMIM:617864
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Impaired pain sensation, Tremor, Hearing impairment ORPHA:101075
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing... OMIM:125250
Developmental And Epileptic Encephalopathy 64
Chorea, Macrotia, Cerebral cortical atrophy, Delayed myelination, Limb hypertonia, Hemiparesis, D... OMIM:618004
Stimmler Syndrome
Aminoaciduria, Intrauterine growth retardation, Short stature ORPHA:3199
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Severe short stature ORPHA:2278
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Hyperkinetic movements, Multifocal epileptiform discharges, Dystonia, Delayed... OMIM:617493
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental deterioratio... OMIM:615924
3-Methylglutaconic Aciduria, Type Iii
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Ataxia, Babinski... OMIM:258501
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Absent b... ORPHA:101085
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Dystonia, Me... OMIM:213600
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Cerebrotendinous Xanthomatosis
Global brain atrophy, Somatic sensory dysfunction, Optic atrophy, Abnormal auditory evoked potent... ORPHA:909
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hypercalciuria ORPHA:2239
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Combined Oxidative Phosphorylation Deficiency 47
Sensorineural hearing impairment, Failure to thrive, Dehydration, Low-set ears, Intrauterine grow... OMIM:618958
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Cerebral cortical atrophy, Abnormal posturing,... ORPHA:157941
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Anxiety, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Mental dete... OMIM:618093
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Parkinsonism, Vertigo OMIM:615483
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... OMIM:611302
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... OMIM:164500
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Sideroblastic anemia, Intention tremor, Hypochromic microcytic anemia, Babins... OMIM:301310
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spa... ORPHA:391417
Late-Infantile/Juvenile Krabbe Disease
Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Impaired tactile se... ORPHA:206443
Spinocerebellar Ataxia Type 14
Gait ataxia, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebell... ORPHA:98763
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Resting tremor, Postural tremor, Writer's cramp, Dysdiadochokinesis, Tor... OMIM:128230
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Cogwheel rigidi... OMIM:616981
Transient Neonatal Diabetes Mellitus
Small for gestational age, Intrauterine growth retardation, Failure to thrive, Dehydration, Heari... ORPHA:99886
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... OMIM:615605
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Babinski sign, Abnormal lowe... OMIM:602433
De Sanctis-Cacchione Syndrome
Global brain atrophy, Spasticity, Sensorineural hearing impairment, Optic atrophy, Leukodystrophy... OMIM:278800
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Small for gestational age, Peripheral axonal degeneration, D... OMIM:604320
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... OMIM:602522
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Hearing impairment ORPHA:101078
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Memory impairment, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:240085
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Failure to thrive, Ataxia OMIM:618951
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Spasticity, EEG abnormality, Hyperkinetic movements, Oculogyric crisis, Myoclonus, Cerebr... OMIM:614254
Mohr-Tranebjaerg Syndrome
Spasticity, Postlingual sensorineural hearing impairment, Abnormal posturing, Progressive sensori... OMIM:304700
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia OMIM:614860
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Sensorineural hearing impairment, Dysdiad... ORPHA:363710
Usher Syndrome Type 1
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Ataxia... ORPHA:231169
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... OMIM:613550
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Leukodystrophy, Hypomyelinating, 13
Spasticity, Exaggerated startle response, Optic atrophy, Leukodystrophy, Ataxia, Failure to thriv... OMIM:616881
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Hearing impairment, Spasticity, Spastic tetraplegia... OMIM:609136
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis OMIM:606995
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Cognitive impairment, Torticollis, Myoclonus, Tremor, Craniofacial dysto... OMIM:617284
Urocanase Deficiency
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor OMIM:276880
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Irritability, Dystonia, Splenomegaly OMIM:615010
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Short stature, Megacystis OMIM:125800
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Paralysis, Peripheral hypomyelina... OMIM:605285
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Short stature, Hypophosphatemia, Hypophosphatemic ... OMIM:300554
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Short stature, Megacystis OMIM:304800
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Emotional lability OMIM:617028
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Dystonia, Anxiety OMIM:619651
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the... ORPHA:137898
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Short stature, Hypsarrhythmia, Choreoathetosis, Failure to thrive, Delayed CNS myelinatio... OMIM:309541
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Global brain atrophy, Cerebral cortical atrophy, Myoclonus, Multifocal epileptiform disch... OMIM:616672
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigidity, Limb apraxia, Apraxia, ... ORPHA:240103
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, EEG abnormality, Poor coordination, Ataxia, Paroxysmal dyskinesia, Dystonia OMIM:619150
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia, Growth delay OMIM:238750
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, Hypercal... OMIM:239200
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor OMIM:266130
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Short stature, Abnormal auditory evoked potentia... OMIM:619260
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... ORPHA:71517
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... OMIM:618587
Spinocerebellar Ataxia 1
Optic atrophy, Truncal ataxia, Babinski sign, Spinocerebellar atrophy, Spasticity, Decreased moto... OMIM:164400
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Short stature, Ataxia, Dystonia, Postnatal growth retardation OMIM:616113
Spinocerebellar Ataxia 47
Chorea, Spasticity, Cerebellar vermis atrophy, Short stature, Ataxia, Dysmetria, Low-set ears OMIM:617931
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Leukodystrophy, Choreoathetosis, Decreased nerve conduction vel... OMIM:614932
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Mepan Syndrome
Chorea, Spasticity, Optic atrophy, Limb dystonia, Hemidystonia, Myoclonus, Ataxia, Abnormality of... ORPHA:508093
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Disproportionate short stature, Hyp... ORPHA:437
Developmental And Epileptic Encephalopathy 27
Chorea, Spasticity, Hypsarrhythmia, Myoclonus, Dystonia OMIM:616139
Juvenile Huntington Disease
Gait ataxia, Chorea, Cerebellar vermis atrophy, Weight loss, Rigidity, Myoclonus, Ataxia, Cerebel... ORPHA:248111
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Cerebral cortical atrophy, Spastic tetraplegia, EEG with photoparoxysmal response, Cerebe... OMIM:619922
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Demen... OMIM:606159
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Diaphragmatic paralysis, Peripheral axonal neuropathy, Craniofacial dystonia, Frequent falls, Axo... OMIM:620011
Autosomal Dominant Spastic Ataxia Type 1
Memory impairment, Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, ... ORPHA:251282
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements OMIM:611031
Myoclonus, Intractable, Neonatal
Chorea, Optic disc pallor, Myoclonus, Delayed CNS myelination, Athetosis OMIM:617235
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq... OMIM:500003
Schimke X-Linked Mental Retardation Syndrome
Growth delay, Spasticity, Choreoathetosis, Hearing impairment OMIM:312840
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Chorea, Spasticity, Optic atrophy, Progress... ORPHA:309271
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Reticular Dysgenesis
Weight loss, Failure to thrive, Hearing impairment, Dehydration, Chronic otitis media ORPHA:33355
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... ORPHA:98811
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Delayed myelination, Sensorineural hearing impairment, Short stature, Ataxia, Lower limb spastici... OMIM:616756
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi... OMIM:617145
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal... OMIM:134600
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ... OMIM:231200
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Gait ataxia, Sensorineural hearing impairment, Undetectable visual evoked potentials, Optic atrop... OMIM:601338
Huntington Disease
Gait ataxia, Chorea, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebellar atrop... OMIM:143100
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Peri... ORPHA:397946
Developmental And Epileptic Encephalopathy 84
Chorea, Spasticity, EEG with burst suppression, Hypsarrhythmia, Babinski sign, Large earlobe, Del... OMIM:618792
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Motor axonal neuropa... ORPHA:1215
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Babinski sign, ... ORPHA:314978
Sneddon Syndrome
Chorea, Hemiparesis, Tremor, Vertigo ORPHA:820
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology ORPHA:231183
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Dystonia, EEG abnormality OMIM:618760
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Homocarnosinosis
Carnosinuria OMIM:236130
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:607706
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Macrotia, Continuous spike and waves during slow sleep, Pain insensitivity, L... OMIM:620149
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Ataxia, Impaired pain sensation, ... ORPHA:99014
Huntington Disease-Like 1
Chorea, Global brain atrophy, Basal ganglia gliosis, Rigidity, Incoordination, Dysmetria OMIM:603218
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Abnormal pyramidal sign, Brain atrophy, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Sl... OMIM:618317
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyposthenuria, Short stature, Hyperprostaglandinuria, Hypokalem... OMIM:601678
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia ORPHA:210571
Krabbe Disease
Peripheral demyelination, Optic atrophy, Progressive spasticity, EEG abnormality, Abnormal flash ... OMIM:245200
Myh9-Related Disease
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... ORPHA:182050
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Limb hypertonia, Parkinsonism, Rigidit... OMIM:615528
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Glut1 Deficiency Syndrome 1
Spasticity, Paroxysmal dystonia, EEG abnormality, Hemiparesis, Myoclonus, Choreoathetosis, Paraly... OMIM:606777
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dyston... OMIM:619565
Infantile Convulsions And Choreoathetosis
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Normal interictal EEG, Ath... ORPHA:31709
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Choreoathetosis, Failure to thrive, Dehydration, Dystonia ORPHA:79312
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... ORPHA:206594
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency OMIM:204690
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor OMIM:616710
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Tremor, Self-mutilation, Emotional lability OMIM:616269
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia, Failure to thrive, Dehydration, Hearing impairment OMIM:560000
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Optic atrophy, Spastic tetraplegia, Ataxia, Abnormality of visual evoked... OMIM:256600
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... ORPHA:2088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Chorea, Failure to thrive, Hearing impairment, Spastic tetraplegia OMIM:620071
Adrenomyeloneuropathy
Progressive spastic paraparesis, Spasticity, Abnormality of central somatosensory evoked potentia... ORPHA:139399
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Sensory axonal neuropathy,... OMIM:300614
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar ataxia, Dy... ORPHA:139485
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Parkinsonism, Rigidity, Dementia, Tremor OMIM:260540
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Retrocollis, Opisthotonus, Spastic diplegia, Parkinsonism, Upper limb spasticity, Cachexi... ORPHA:300605
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Short stature, Citrullinuria, Abnormality of circulating enzyme l... ORPHA:3124
Optic Atrophy 8
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Optic atrophy,... OMIM:616648
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Short stature ORPHA:417
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Irritability, Ataxia, Thrombocytopenia, Athetosis, Folate-responsive meg... OMIM:229050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Peripheral axonal degeneration, Babinski sign, Hearing impairment, Bra... OMIM:615157
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Nabais Sa-De Vries Syndrome, Type 2
Chorea, Polyhydramnios, Microtia, Hemiparesis, Posteriorly rotated ears, Dystonia, Low-set ears, ... OMIM:618829
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Pelizaeus-Merzbacher Disease
Spasticity, Cerebral cortical atrophy, Optic atrophy, Short stature, Cachexia, Choreoathetosis, A... ORPHA:702
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, Somatic sensory dysfunction, EEG abno... ORPHA:206448
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Spasticity, Abnormal pyramidal sign, Limb hypertonia, EEG abnormality, Abnor... ORPHA:500180
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor ... ORPHA:275872
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Cerebral edema, Spastic tetraplegia, Hypsarrhythmia, Myoclonus, Ataxia, Dyst... OMIM:618321
Familial Cold Urticaria
Dysesthesia, Sensorineural hearing impairment, Dehydration ORPHA:47045
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Failure to thrive, Axonal degeneration, Clonus OMIM:618811
Teratoma, Pineal
Polyuria OMIM:273120
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Aggressive behavior, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Gordon Holmes Syndrome
Cerebellar atrophy, Ataxia, Cerebral atrophy, Chorea OMIM:212840
D-Glyceric Aciduria
Chorea, Spasticity, Brain atrophy, Myoclonus, Hearing impairment ORPHA:941
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Progressive hearing impairment, Abnormal autonomic nervous system phys... ORPHA:97229
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... OMIM:606703
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... ORPHA:521406
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Sensorineural hearing impairment, Eyelid myoclonus, Clumsiness, Myoclonus, Abnorm... ORPHA:2590
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Apathy, Bradykinesia ORPHA:306692
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Cognitive impairment, Postural tremor, Parkinsonism, Limb d... OMIM:612067
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Phosphoethanolaminuria, Elevated urine pyrophosphate, Disproportio... OMIM:241500
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Sensorineural hearing impairment, Limb dystonia, Choreoathetosis, Failure to... ORPHA:319514
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Amyotrophic lateral sclerosis, Gliosis, Athetosis, Dystonia OMIM:300857
Spastic Tetraplegia And Axial Hypotonia, Progressive
Polyhydramnios, Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babi... OMIM:618598
Huntington Disease
Poor fine motor coordination, Chorea, Weight loss, Involuntary movements, Rigidity, Clumsiness, M... ORPHA:399
Mitochondrial Complex I Deficiency, Nuclear Type 12
Myoclonus, Choreoathetosis, Progressive sensorineural hearing impairment, Ataxia, Frequent falls,... OMIM:301020
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Chorea, Dysdiadochokinesis, Short stature, Oculomotor apraxia, Myoclonus, Ataxia, Dy... ORPHA:251347
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Resting tremor, Spastic tetraplegia, P... OMIM:617225
Dystonia With Ringbinden
Chorea, Dystonia OMIM:224550
Leigh Syndrome With Cardiomyopathy
Chorea, Global brain atrophy, Spasticity, Basal ganglia gliosis, Optic atrophy, Leukodystrophy, A... ORPHA:70474
Spinocerebellar Ataxia 19
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... OMIM:607346
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, P... OMIM:601152
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Choreoathetosis, Ataxia, Tremor, Growth delay, Cerebral atrophy, Bilateral sensori... OMIM:619422
Developmental And Epileptic Encephalopathy 6B
Chorea, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Choreoathetosis, Multifocal epileptif... OMIM:619317
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Impaired distal proprioception, Chronic axonal neuropathy, Sensorineural hearing impairment, Decr... OMIM:162400
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Upper limb postural tremor, Hand tremor, Myoclonus, Or... ORPHA:420485
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... ORPHA:18
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypercalci... OMIM:241530
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Anxiet... OMIM:619279
Leigh Syndrome
Optic atrophy, Choreoathetosis, Upper motor neuron dysfunction, Sensory axonal neuropathy, Spasti... ORPHA:506
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Dehydration ORPHA:27
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Dystonia, Bra... ORPHA:329284
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor... OMIM:236792
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Abnormal myelination, Ba... ORPHA:401820
Developmental And Epileptic Encephalopathy 40
Spasticity, Cerebral cortical atrophy, Small for gestational age, Hypsarrhythmia, Myoclonus, Chor... OMIM:617065