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
increased startle reflex Kcnj10tm1b(KOMP)Wtsi HET Early adult 4.76×10-09
decreased basophil cell number Kcnj10tm1b(KOMP)Wtsi HET Early adult 6.14×10-05
decreased mean platelet volume Kcnj10tm1b(KOMP)Wtsi HET Early adult 6.53×10-26
decreased exploration in new environment Kcnj10tm1b(KOMP)Wtsi HET   Early adult 7.35×10-05
preweaning lethality, complete penetrance Kcnj10tm1b(KOMP)Wtsi HOM   Early adult 0.00
tremors Kcnj10tm1b(KOMP)Wtsi HET Early adult 9.22×10-05

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 N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 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)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 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)
Olfactory lobe N/A heterozygote 100% (2 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)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 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)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 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.

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

MicroCT E18.5

Embryo reconstruction

3 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
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... OMIM:619491
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... ORPHA:401901
Pelizaeus-Merzbacher Disease
Hearing impairment, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoathe... OMIM:312080
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Postural tremor, Abnormal pyramidal sign, Dementia, Progressive cerebellar ataxia ORPHA:85292
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
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, Hand tremor, Incoordination, Dysme... OMIM:302800
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... OMIM:601596
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Short stature... OMIM:268700
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Threoninemia
Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:273770
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp OMIM:159900
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Short statu... OMIM:612780
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Hearing impairment, Tremor OMIM:614369
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... OMIM:256100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Axonal ... OMIM:609260
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Folinic Acid-Responsive Seizures
Optic atrophy, Frontotemporal cerebral atrophy, Cerebellar atrophy, EEG with generalized slow act... ORPHA:79097
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria OMIM:617671
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hearing impairment, Gait ataxia, Tr... ORPHA:217012
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:605909
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor ORPHA:308
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Chorea, Postural... OMIM:620158
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... ORPHA:101109
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... OMIM:604484
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Memory impairment, Rigidity ORPHA:401849
Nephronophthisis 4
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... OMIM:606966
Arnold-Chiari Malformation Type I
Abnormality of the eleventh cranial nerve, Functional abnormality of the inner ear, Myelopathy, S... ORPHA:268882
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Optic atrophy, Sensory axonal neuropathy, Somatic sensory dysfuncti... ORPHA:99947
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Emotional lability, Gait ataxia, Tremor, ... OMIM:615362
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Schwannomatosis 1
Vestibular schwannoma, Spinal cord tumor, Peripheral schwannoma OMIM:162091
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... OMIM:165300
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Growth delay, Hypomagnesemia, Hypokalemia, Dela... OMIM:263800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Fasciculations, Axonal degeneration/regeneration, Dist... OMIM:614436
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... ORPHA:216873
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Motor axonal neuropathy, Sensorineural hearing impairment, Peripheral axonal neuropathy, Absent b... OMIM:617519
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Opticocochleodentate Degeneration
Optic atrophy, Spastic tetraplegia, Hearing impairment, Cochlear degeneration OMIM:258700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Axonal d... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Basal lamina onion bulb fo... OMIM:214400
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dystonia 12
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Bradykinesia OMIM:128235
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, Growth delay OMIM:602722
Renal Tubular Acidosis, Proximal
Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu... OMIM:179830
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Ax... OMIM:604168
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Huntington Disease-Like 2
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Dementia,... OMIM:606438
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Abnormality... ORPHA:98756
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Hearing impairment, Progressive spastic paraplegia, Hand tremor, Lower... ORPHA:401830
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Vertigo, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, He... ORPHA:217260
Superficial Siderosis
Cerebellar atrophy, Impaired pain sensation, Vertigo, Abnormality of the vestibulocochlear nerve,... ORPHA:247245
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Atroph... ORPHA:99852
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Distal sensory impai... OMIM:613641
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Sens... ORPHA:98856
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Global brain atrophy, Hearing impairment, Failure to thrive, Myoclonus, Multifocal... OMIM:609056
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Carnosinemia
Carnosinuria OMIM:212200
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Low-set ears, Spasticity, Cerebral palsy, Chorea, Babinski sign, EEG abnormality, Hypertonia, Dys... OMIM:618451
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Postnatal growth retardation, Intrauterine growth retardation, Hypercalciuria, Micro... OMIM:614732
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Caudate atrophy, Weight l... ORPHA:98934
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, C... OMIM:617672
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, CNS hypomyelination, Somatic sensory dysfunction, Abnormal m... ORPHA:320401
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyuria OMIM:222100
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Friedreich Ataxia
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Sensory... ORPHA:95
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:620482
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Amyotrophy, Hereditary Neuralgic
Low-set ears, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degeneration, Sh... OMIM:162100
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Tremor, Delayed CNS myelination, Ataxia, Ab... OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia OMIM:615768
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Irritability, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoat... OMIM:612126
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Head tremor, Impaired vibration sensati... ORPHA:95433
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Obesity, Intrauterine growth retardation, Limb dystonia, Tremor, Ataxia OMIM:620270
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Growth delay, Elevated urinary formiminoglutamic ac... OMIM:229100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Chorea, Paresthesia, Intrauterine growth retardation, Abnormality of p... ORPHA:48431
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Familial Renal Glucosuria
Nephropathy, Moderate postnatal growth retardation, Glycosuria, Recurrent urinary tract infection... ORPHA:69076
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P... ORPHA:282166
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... OMIM:618093
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Spasticity, Failure to thrive, EEG with generalized slow activity, Cho... OMIM:617864
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal degener... OMIM:606482
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Neurodegeneration, Sensorineura... OMIM:214150
Spinocerebellar Ataxia 17
Cerebellar atrophy, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, P... OMIM:607136
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Chor... OMIM:261630
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, EEG abnormality, Hypertonia, Atax... ORPHA:71277
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Camptodactyly 1
Increased urinary taurine OMIM:114200
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, EEG with burst suppression, Chorea, Delayed CNS myelination, Hypsarrhythmia, Dy... OMIM:615473
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Abnormal motor evoked potentials, Pa... ORPHA:909
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s... ORPHA:101085
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, A... OMIM:258501
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Severe short stature ORPHA:2278
Stimmler Syndrome
Aminoaciduria, Intrauterine growth retardation, Short stature ORPHA:3199
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, Tremor, Ataxia ORPHA:101075
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Hyperlysinemia, Dibasicaminoaciduria, Growth delay OMIM:238750
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia... ORPHA:1368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Abnormal amplitude of pattern rev... OMIM:125250
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:616710
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Cognitive impa... OMIM:615483
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Cognitive ... OMIM:617284
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... ORPHA:251282
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Mohr-Tranebjaerg Syndrome
Spasticity, Progressive sensorineural hearing impairment, Abnormal posturing, Tremor, Postlingual... OMIM:304700
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hearing impairment, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Lichtenstein-Knorr Syndrome
Vestibular hypofunction, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,... OMIM:616291
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Hearing impairment, Peripheral demyelination, Distal sensory imp... OMIM:609136
Combined Oxidative Phosphorylation Deficiency 47
Low-set ears, Failure to thrive, Intrauterine growth retardation, Sensorineural hearing impairmen... OMIM:618958
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... ORPHA:231169
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... OMIM:616881
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Hearing impairment, Postnata... ORPHA:391417
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Cerebellar atro... ORPHA:98755
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
De Sanctis-Cacchione Syndrome
Severe short stature, Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Leukodys... OMIM:278800
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Decreased nerve conduction velocity, Intrauterine growth retardation, Axonal d... OMIM:604320
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Hyperkine... OMIM:614254
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Failure to thrive, Tremor, Ataxia OMIM:618951
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigi... ORPHA:363710
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral hypomyelination,... OMIM:605285
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Hearing impairment, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Optic atrophy, Cerebellar atrophy, Hearing impairment, Cerebral at... ORPHA:137898
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Cerebral... OMIM:616672
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... OMIM:613550
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Chorea, Delayed CNS myelination, Hypsarrhythmia, Short stature, Athetosis, Cho... OMIM:309541
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Hypernatremia, Polyuria, Megacystis OMIM:125800
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Chorea, EEG abnormality, Ataxia, Dystonia, Paroxysmal dyskinesia OMIM:619150
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypernatremia, Polyuria, Megacystis OMIM:304800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co... OMIM:618587
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, CNS hypomyelination... OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... ORPHA:206443
Mepan Syndrome
Optic atrophy, Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy,... ORPHA:508093
Reticular Dysgenesis
Failure to thrive, Hearing impairment, Weight loss, Chronic otitis media, Dehydration ORPHA:33355
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Tremor, Rigidity, Dystonia, Parkinsonism wit... ORPHA:240085
Glutathione Synthetase Deficiency
Neutropenia, Ataxia, Spastic tetraparesis, Hemolytic anemia, Intention tremor OMIM:266130
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Cerebellar atrophy, Chorea, Intrauterine growth retardation, EEG with ... OMIM:619922
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Postnat... OMIM:227810
Spinocerebellar Ataxia 47
Low-set ears, Spasticity, Cerebellar vermis atrophy, Chorea, Dysmetria, Ataxia, Short stature OMIM:617931
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Optic atrophy, Resting tremo... ORPHA:401768
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Impaired pain sensation, Axonal de... OMIM:607706
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Lingual dyston... OMIM:500003
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia... ORPHA:248111
Developmental And Epileptic Encephalopathy 27
Spasticity, Chorea, Myoclonus, Hypsarrhythmia, Dystonia OMIM:616139
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Irritability, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment ORPHA:231183
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calcinosis, Hyperca... OMIM:239200
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Dystonia, ... OMIM:614932
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Diaphragmatic paralysis... OMIM:620011
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Delayed CNS myelination, Optic disc pallor, Athetosis OMIM:617235
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Schimke Syndrome
Spasticity, Growth delay, Hearing impairment, Choreoathetosis OMIM:312840
Huntington Disease-Like 1
Global brain atrophy, Incoordination, Chorea, Dysmetria, Rigidity, Basal ganglia gliosis OMIM:603218
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Sneddon Syndrome
Vertigo, Chorea, Tremor, Hemiparesis ORPHA:820
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... OMIM:143100
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Low-set ears, Chorea, Gait ataxia, Lower limb spasticity, Short stature OMIM:620445
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Cerebral atrophy, Frequent falls, Fasciculations, Chorea, Periphe... ORPHA:397946
Birk-Aharoni Syndrome
Spastic tetraplegia, Chorea, Hearing impairment, Failure to thrive OMIM:620071
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki... OMIM:618317
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Developmental And Epileptic Encephalopathy 110
Low-set ears, Pain insensitivity, Spasticity, Continuous spike and waves during slow sleep, Chore... OMIM:620149
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, T... ORPHA:99014
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Developmental And Epileptic Encephalopathy 84
Spasticity, Large earlobe, EEG with burst suppression, Chorea, Opisthotonus, Babinski sign, Delay... OMIM:618792
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... OMIM:617145
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, EEG abnormality OMIM:618760
Homocarnosinosis
Carnosinuria OMIM:236130
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Decreased nerve conduction veloc... ORPHA:309271
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis, Norma... ORPHA:31709
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Dystonia, Choreoathetosis, Dehydration ORPHA:79312
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, EEG abnormalit... OMIM:606777
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Sensorineural... OMIM:610185
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Abs... ORPHA:1215
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Tremor, Sensorineural heari... OMIM:118300
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Park... OMIM:619565
Developmental And Epileptic Encephalopathy 64
Cerebral cortical atrophy, Chorea, Paroxysmal dystonia, Hemiparesis, Delayed CNS myelination, Lim... OMIM:618004
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Hyperprolinemia, Type I
Hyperprolinemia, Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Hearing impairment, Myoclonus, Ataxia, Dehydration OMIM:560000
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Low-set ears, Chorea, Delayed CNS myelination, Microtia OMIM:620535
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Deafness, X-Linked 5, With Peripheral Neuropathy
Sensory axonal neuropathy, Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear ... OMIM:300614
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Myoclonus, Tremor, Sensorineural... ORPHA:2590
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, Tremor, Delayed CN... OMIM:620546
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia ORPHA:716
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... ORPHA:3124
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Chorea, Gait ataxia, Abnormality of extrap... ORPHA:500180
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Axonal degeneration, Babi... ORPHA:139399
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, CNS hypomyelination, Amyotrophic lateral sclerosis, Chorea, Spastic diplegia, Retro... ORPHA:300605
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Pro... ORPHA:139485
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Hypsar... OMIM:618321
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Huntington Disease
Involuntary movements, Degeneration of the striatum, Decreased body mass index, Cerebral atrophy,... ORPHA:399
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Short stature ORPHA:417
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Neurodegeneration, Parap... OMIM:615157
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Failure to thrive in infancy, Chorea, Hemiparesis, Protruding ear, Polyhydramnios, ... OMIM:618829
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Tremor, Hypsarrhythmia, Ataxia, Multifocal epil... ORPHA:599373
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein... ORPHA:18
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Acroparesthesia, Somatic ... ORPHA:206448
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Familial Cold Urticaria
Dysesthesia, Dehydration, Sensorineural hearing impairment ORPHA:47045
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Progressive hearing impairment, Abnormal cranial nerve morphology, Myo... ORPHA:97229
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Clonus, Failure to thrive, Axonal degeneration OMIM:618811
D-Glyceric Aciduria
Spasticity, Hearing impairment, Chorea, Myoclonus, Brain atrophy ORPHA:941
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Cerebral cortical atrophy, Chorea, Myoclonus, Lower limb spasticit... ORPHA:485350
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Trem... ORPHA:101077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Tremor, Ataxia, Bilateral sensorineural hearing impairment, Dyst... OMIM:619422
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Progressive sensorineural hearing impairment, Myoclonus, Ataxia, Frequent fal... OMIM:301020
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Dystonia, Athetosis OMIM:300857
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis, Dehydration ORPHA:27
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal sensory impairment, Tremor, Decreased number of... OMIM:607734
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Hypophosphatasia, Infantile
Nephrocalcinosis, Disproportionate short-limb short stature, Phosphoethanolaminuria, Elevated pla... OMIM:241500
Developmental And Epileptic Encephalopathy 6B
Chorea, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic movements, Ataxia, Multi... OMIM:619317
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor aprax... ORPHA:251347
Combined Oxidative Phosphorylation Defect Type 13
Failure to thrive, Decreased nerve conduction velocity, Intrauterine growth retardation, Limb dys... ORPHA:319514
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Distal sensory impairment, Peripheral hypomyelination, Neonatal death, Vocal cor... OMIM:616287
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Teratoma, Pineal
Polyuria OMIM:273120
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Speec... ORPHA:251061
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc... OMIM:241530
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cognitive impairment, Tr... OMIM:607346
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Spastic paraparesis, Decreased motor nerve conduction velocity, Sensory axonal neu... OMIM:608804
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Cerebral atrophy, Myoclonus, Hyperkinetic movements, Dystonia, Cho... OMIM:618497
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Leigh Syndrome
Spasticity, Leukodystrophy, Sensorineural hearing impairment, Hypsarrhythmia, Ataxia, Choreoathet... ORPHA:506
Myopathy With Extrapyramidal Signs
Optic atrophy, Growth delay, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsi... OMIM:615673
X-Linked Intellectual Disability, Schimke Type