Gene Summary

Name:
listerin E3 ubiquitin protein ligase 1
Synonyms:
Rnf160,  Listerin,  Zfp294,  4930528H02Rik

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
preweaning lethality, incomplete penetrance Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased red blood cell distribution width Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 7.80×10-06
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 5.89×10-05
decreased circulating alkaline phosphatase level Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 9.06×10-11
increased freezing behavior Ltn1tm1b(EUCOMM)Hmgu HET Early adult 1.49×10-05
thrombocytopenia Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 1.89×10-12
increased lung elastance Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 2.36×10-07
increased airway resistance Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 3.65×10-05
no spontaneous movement Ltn1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
decreased body weight Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 4.50×10-12
increased lung tissue damping Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 5.67×10-09
abnormal cornea morphology Ltn1tm1b(EUCOMM)Hmgu HOM Early adult 4.12×10-05

Download data as:  TSV  XLS

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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 100% (2 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Chest bone N/A heterozygote 50% (1 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Gonadal fat pad N/A heterozygote Not available
Harderian gland N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 50% (1 of 2)
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Olfactory lobe N/A heterozygote 50% (1 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Parotid gland N/A heterozygote Not available
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 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 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote Not available
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote Not available
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Not available
Axial skeleton N/A heterozygote Ambiguous
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Dorsal root ganglion N/A heterozygote Not available
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (1 of 1)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Not available
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Fronto-nasal process N/A heterozygote Not available
Gut N/A heterozygote Not available
Handplate N/A heterozygote Ambiguous
Head mesenchyme N/A heterozygote Not available
Head N/A heterozygote Ambiguous
Heart ventricle N/A heterozygote Not available
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote Not available
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Meckel's cartilage N/A heterozygote Not available
Mesonephros of female N/A heterozygote Not available
Mesonephros of male N/A heterozygote Not available
Metanephros N/A heterozygote Not available
Midbrain N/A heterozygote Ambiguous
Nasal septum N/A heterozygote Not available
Nose N/A heterozygote Ambiguous
Notochord N/A heterozygote Not available
Oral cavity N/A heterozygote Ambiguous
Outflow tract N/A heterozygote Not available
Pancreas N/A heterozygote Not available
N/A heterozygote Not available
Pharynx N/A heterozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote Not available
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Stomach N/A heterozygote Not available
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Not available
Tongue N/A heterozygote Not available
Trachea N/A heterozygote Not available
Trunk mesenchyme N/A heterozygote Not available
Umbilical artery embryonic part N/A heterozygote Not available
Umbilical vein embryonic part N/A heterozygote Not available
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Urinary system N/A heterozygote Not available
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
cranium
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
ileum 13.97% (19 of 136)
jejunum 8.63% (12 of 139)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 319)
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thalamus 0.0%
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.89% (1 of 53)
axial skeleton 1.69% (1 of 59)
brain 1.25% (6 of 479)
central nervous system ganglion 1.49% (1 of 67)
cranium 1.64% (1 of 61)
dorsal root ganglion 1.75% (1 of 57)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
external ear 1.47% (1 of 68)
eye 0.21% (1 of 473)
femur pre-cartilage condensation 1.92% (1 of 52)
footplate 0.21% (1 of 472)
forearm 0.36% (1 of 281)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
fronto-nasal process 1.82% (1 of 55)
gut 1.75% (1 of 57)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
head mesenchyme 1.92% (1 of 52)
heart 0.21% (1 of 467)
heart ventricle 1.89% (1 of 53)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
humerus pre-cartilage condensation 1.69% (1 of 59)
inner ear 1.59% (1 of 63)
intestine 1.85% (1 of 54)
liver 0.21% (1 of 478)
lower leg 0.36% (1 of 281)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
meckel's cartilage 0.0%
mesonephros of female 1.96% (1 of 51)
mesonephros of male 2.04% (1 of 49)
metanephros 1.89% (1 of 53)
midbrain 0.21% (1 of 468)
nasal septum 1.75% (1 of 57)
nose 1.41% (1 of 71)
notochord 1.75% (1 of 57)
oral cavity 0.21% (1 of 470)
outflow tract 1.79% (1 of 56)
pancreas 1.96% (1 of 51)
pericardium 2.04% (1 of 49)
pharynx 1.85% (1 of 54)
radius-ulna pre cartilage condensation 1.72% (1 of 58)
rib pre-cartilage condensation 1.85% (1 of 54)
skeleton 1.33% (1 of 75)
skin 0.21% (1 of 474)
spinal cord 1.45% (1 of 69)
stomach 2% (1 of 50)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)
thoracic vertebral cartilage condensation 2.08% (1 of 48)
tongue 1.92% (1 of 52)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.72% (1 of 58)
umbilical vein embryonic part 1.75% (1 of 57)
upper arm 0.35% (1 of 283)
upper leg 0.35% (1 of 288)
urinary system 1.79% (1 of 56)
vibrissa 1.41% (1 of 71)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Hind Leg and Hip

46 Images

X-ray

XRay Images Forepaw

23 Images

Adult LacZ

LacZ Images Section

122 Images

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

Embryo LacZ

LacZ images wholemount

4 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Human diseases caused by Ltn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ltn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Major Depressive Disorder
Depression OMIM:608516
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Babinski sign, Cogwheel rigidity, Spasticity, Spastic tetraparesis, Hypertonia, Loss of a... ORPHA:225154
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... OMIM:253400
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Autosomal Dominant Spastic Paraplegia Type 3
Growth delay, Distal lower limb muscle weakness, Bradykinesia, Lower limb hypertonia, Tip-toe gai... ORPHA:100984
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Babinski si... OMIM:613954
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function... ORPHA:275872
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial m... OMIM:205100
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... OMIM:615643
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... ORPHA:320370
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Upper motor neuron dysfunction, Skeletal muscle atrophy, Amyotrophic... OMIM:612577
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia OMIM:300857
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Cerebral a... ORPHA:521406
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Parkinsonism, Rigidity, Gait disturbance, Tremor, Substantia nigr... OMIM:600116
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr... ORPHA:98762
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Tip-toe gait, Dysmetria, Axonal degeneration, Hand tremor, Bab... OMIM:302800
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Dysmetr... OMIM:607136
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... ORPHA:300605
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Corpus callosum atrophy, Parkinso... OMIM:221820
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Geniospasm 1
Anxiety OMIM:190100
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... OMIM:253550
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... OMIM:143100
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... OMIM:607596
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Action tremor, Cerebral ... ORPHA:254886
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum OMIM:609161
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... OMIM:300894
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity, Limb dystonia, Hypo... OMIM:618824
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Myoclonus, Progressive distal muscular atrophy, Facial palsy... OMIM:159950
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... OMIM:105400
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations, Distal upper limb amyotrophy ORPHA:65684
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... OMIM:618418
Caribbean Parkinsonism
Action tremor, Cerebral cortical atrophy, Bradykinesia, EMG: myopathic abnormalities, Myoclonus, ... ORPHA:97355
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Limb muscle weakness, Abno... OMIM:614373
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Myoclonus, Babinski s... ORPHA:204
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Abnorma... OMIM:602099
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Diffuse cerebral atrophy, Shufflin... ORPHA:412066
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... ORPHA:210571
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Neuronal loss in central nervous system, Progressive extrapyramidal muscular rigi... ORPHA:282166
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... OMIM:261640
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations, Skeletal muscle atrophy OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory impairment, Upper limb ... OMIM:302802
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Myoclonus, Babinski sign, Paroxysmal lethargy, Hemiparesis, Choreoat... OMIM:606777
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Loss of ambulation, Neuronal loss in central nervous system, Abnor... OMIM:608627
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal sensory impairment, Difficulty walking, Paralysis, Skeletal muscle atrophy, Lethargy OMIM:613710
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber... OMIM:258450
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign, Increased variability in muscl... OMIM:619065
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... ORPHA:276244
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Postural tremor, Dysdiado... ORPHA:98755
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Huntington Disease
Gait imbalance, Inability to walk, Clumsiness, Cerebral atrophy, Poor fine motor coordination, Br... ORPHA:399
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Hemidystonia, Short stature, Abnormal pyramidal sign, Spastic tetraparesis, Spastic... OMIM:619052
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia OMIM:618317
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Gait disturbance, Tremor, Impaired pain sensation ORPHA:99014
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Parkinsonism with favorable response to dopaminergic m... OMIM:606693
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia OMIM:606438
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Oculogyric crisis, Gait a... ORPHA:101150
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... OMIM:109150
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity OMIM:614808
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Skeletal muscle atrophy OMIM:612069
Childhood-Onset Nemaline Myopathy
Slender build, Facial diplegia, Nemaline bodies, Clumsiness, Bradykinesia, Flexion contracture, E... ORPHA:171439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Huntington Disease-Like 1
Cerebral cortical atrophy, Gliosis, Poor fine motor coordination, Dysmetria, Clumsiness, Bradykin... ORPHA:157941
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction, Skeletal muscle atrophy, Dys... OMIM:500001
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia, Hypomimic face OMIM:128235
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... OMIM:183090
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Short stature, Gait disturbance, Impaired pa... ORPHA:2815
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Neurodegene... OMIM:606159
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Babinski sign, Distal lower limb amyotrophy, Postural tremor, Inabili... ORPHA:99947
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... OMIM:606183
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Babinski sign, Increased variability in muscle fib... OMIM:616924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness OMIM:619141
Adult-Onset Nemaline Myopathy
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... ORPHA:171442
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Babinski sign, Parki... OMIM:300055
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Short stature, EMG: myopathic abnormalities, Rimmed... ORPHA:52430
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Dystonia OMIM:617836
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Axial mu... ORPHA:240085
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Inability to walk, Intrinsic hand muscle atrophy, Spastic paraparesis, Prox... ORPHA:101077
Hypermanganesemia With Dystonia 2
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Limb joint contracture, Achi... OMIM:617013
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Rigidity, Tremor, Cerebellar a... ORPHA:329284
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paralysis OMIM:608634
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Di... ORPHA:306669
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Foot dorsiflexor weakness, Spinal muscular atrophy, Distal amyotrophy, Progressive spastic parapa... ORPHA:496756
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Nemaline Myopathy 2
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:256030
Porphyria, Acute Hepatic
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis OMIM:612740
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Babinski sign... ORPHA:444099
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Loss of ambulation, Fasciculations, Tongue fasciculations OMIM:613435
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:619279
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism OMIM:615911
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Cerebral atrophy, Paralysis, Arthrogryposis multiplex congenita, Cerebellar atro... OMIM:616286
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy... ORPHA:275864
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal a... OMIM:618877
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Facial pal... OMIM:301830
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Limb hypertonia, Cerebral palsy, Rigidity, Oculogyric cr... ORPHA:70594
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Inability to walk, Truncal titubation, Action tremor, Opisthotonus, Babi... OMIM:607483
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Lower limb muscle w... OMIM:137440
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Dys... OMIM:617384
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... ORPHA:401768
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:673
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu... OMIM:606070
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... OMIM:612067
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Neurodegeneration, Paralysis, Spasticity, Motor neuron atrophy, Sk... ORPHA:803
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Diffuse cerebral ... ORPHA:363654
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Small for gestational age, Axonal degeneration, Degeneration of anterior horn ... OMIM:604320
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Ragged-red muscle fibers, Spastic tetraparesis, Dystonia OMIM:614924
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Mast Syndrome
Spastic paraparesis, Babinski sign, Lower limb muscle weakness, Gait disturbance, Spastic paraple... OMIM:248900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... ORPHA:13
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Ankle flexion contracture, Abnormal muscle fiber morphology, Weakness of facial ... ORPHA:1145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Parkinsonism with favorable response to dopaminergic medication, Bradykine... OMIM:157640
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Chorea, Benign Hereditary
Anxiety OMIM:118700
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation OMIM:615515
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... ORPHA:423275
Acute Peripheral Arterial Occlusion
Paresthesia, Limb muscle weakness, Impaired distal tactile sensation, Paralysis ORPHA:90064
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... OMIM:224120
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Dysmetria, Spastic paraparesis, Short stature, Ankle clonus, Knee clonus, ... OMIM:275900
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Dyston... OMIM:601338
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... OMIM:616053
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... OMIM:617672
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Abnormal motor neuron morphology, Impaired pain sensation, Impaired... DECIPHER:29
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... OMIM:603516
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Neurodegeneration, Truncal atax... OMIM:300100
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Generalized cerebral atrophy/hypoplas... ORPHA:36387
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... OMIM:615285
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Short stature, Myoclonus, Titubation, Impaire... ORPHA:98768
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Frontal cortical atrophy, Cerebral cortical atrophy, Park... ORPHA:2822
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Neuroferritinopathy
Arm dystonia, Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinson... ORPHA:157846
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peroneal muscle weakness, Loss of ambulation, Hand muscle weakness, Intrinsic hand muscle atrophy... ORPHA:101097
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Increased endomysial connective tissue, EMG: myopathic abnormalities, Increase... ORPHA:266
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Loss of ambulation, Frontal cortical atrophy, Brain atrophy, Pelvic gi... OMIM:167320
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Trophic limb changes, Degeneration of anterior horn cells, Par... OMIM:118301
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigid... ORPHA:98760
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Neuronal loss in central nervous system, Ataxia, Gliosis, Failure to thrive, Myoclonu... OMIM:203700
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Inability to walk, Hand muscle weakness, Poor fine motor coordinat... ORPHA:99948
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Gait distu... ORPHA:289560
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Gliosis, Cereb... OMIM:601104
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle... OMIM:500003
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorab... ORPHA:240071
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... ORPHA:231401
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... ORPHA:603
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalities, Myelitis, Parkinso... ORPHA:1320
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Parkinsonism, Rigidity, Cog... ORPHA:33069
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... ORPHA:102
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Proximal muscle weakness in lower limbs, Distal amyotrophy, Impaired distal ... OMIM:607706
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Hereditary Late-Onset Parkinson Disease
Akinesia, Gliosis, Cerebral cortical atrophy, Parkinsonism with favorable response to dopaminergi... ORPHA:411602
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Blepharospasm, Brady... ORPHA:683
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Babinski sign... ORPHA:98808
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Leg muscle s... ORPHA:43
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Clumsiness, Bradykinesia, Axial dystonia, Resting tremor, Hand tremor, Ankle ... OMIM:612953
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Babinski sign, Tremor, Spasticity, Dystonia, Abnormal pyramidal sign, Parkinsonism, Rigid... OMIM:234200
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resti... ORPHA:227510
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Failure to thrive, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration... OMIM:614399
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Increased intramyocellular... OMIM:614487
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Dystonia... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Dystonia... ORPHA:276241
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Cerebral atrophy, Exaggerated startle response, Abnormal pyramidal sign, Neurodegener... OMIM:272750
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... ORPHA:98933
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnor... OMIM:606353
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Tetraparesis, Choreoathetosis, Lethargy ORPHA:27
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Clumsiness, Amyotrophy of ankle musculature, Joint contracture of ... ORPHA:399086
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Paraparesis, Ataxia, Opisthotonus, Hand muscle atrophy, Upper limb muscle weakn... ORPHA:1136
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Distal amyotrophy, Gait ataxia, Abnormal upper... OMIM:215470
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:98757
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Post... ORPHA:391417
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Inability to walk, Astrocytosis, Difficulty walking, Facial hypotonia OMIM:611087
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... OMIM:613280
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Myelopathy, Spastic paraparesis OMIM:159580
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Parkinson Disease, Late-Onset
Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tr... OMIM:168600
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... ORPHA:778
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Spastic dysarthria, Distal... ORPHA:313772
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Lower limb amyotrop... ORPHA:466722
Merrf
Ragged-red muscle fibers, Ataxia, Myopathy, Short stature ORPHA:551
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Parkinsonism, Somatic sensory dysfunction, Ragged-red muscle fibers, ... OMIM:610246
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Increased variability in muscle fiber diameter, Type 1 muscle fib... OMIM:619042
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Leukocytosis, Respiratory fail... ORPHA:90060
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:171695
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Crackles, Cough, Abnormal breat... ORPHA:210136
Sengers Syndrome
Respiratory insufficiency, Thrombocytopenia, Developmental cataract OMIM:212350
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Loss of am... ORPHA:98897
Perry Syndrome
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf... OMIM:168605
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Sensory ataxia, Distal sensory impairment, Difficulty walking, Limb muscle weakness, Vocal cord p... OMIM:614895
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Babinski si... ORPHA:97349
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber diam... OMIM:607459
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... OMIM:619566
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Rigidity, Tremor, Skeletal ... OMIM:146500
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Ataxia, Cerebellar vermis atrophy, Dysmetria, Spastic paraparesis, Corpus call... OMIM:614877
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Vocal cord paralysis, Hypoesthesia, Hand paresthesia OMIM:162500
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... ORPHA:488650
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy OMIM:545000
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Limb muscle weakn... ORPHA:254892
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Stillbirth OMIM:619751
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Spastic paraparesis, Abnormal pyramidal sign, Corpus callosum atrophy, Progres... OMIM:260600
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Tongue fasciculations, Involuntary movements, Ske... ORPHA:238329
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Gait disturbance, Spasticity, Myopathy OMIM:125250
Primary Progressive Freezing Gait
Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... ORPHA:75567
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Right ventricular hypertr... ORPHA:353
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability in muscle fib... OMIM:619790
Poliomyelitis
Paraparesis, Inability to walk, Hypoplasia of the musculature, Abnormal skeletal muscle morpholog... ORPHA:2912
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Failure to thrive, Thrombocytopenia, Cataract ORPHA:67048
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Clumsiness, Myoclonus, Limb myoclonus, Lower limb muscle weakness, Abnormal lo... ORPHA:2590
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Distal amyotrophy, Abnormal lower motor neuron morphology, Spinal ... OMIM:611067
Rabies
Paresthesia, Cerebral palsy, Vocal cord paresis ORPHA:770
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal muscle weakness in low... OMIM:618138
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Babinsk... OMIM:615491
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... OMIM:612937
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Slc35A1-Cdg
Respiratory distress, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, Thrombocytopenia, Abnor... ORPHA:238459
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis