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
increased red blood cell distribution width Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 7.80×10-06
decreased body weight Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 4.50×10-12
preweaning lethality, incomplete penetrance Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased lung elastance Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 7.63×10-06
increased lung tissue damping Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 1.75×10-08
increased airway resistance Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 1.26×10-05
thrombocytopenia Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 1.61×10-12
abnormal cornea morphology Ltn1tm1b(EUCOMM)Hmgu HOM Early adult 5.71×10-05
no spontaneous movement Ltn1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 8.59×10-05
decreased circulating alkaline phosphatase level Ltn1tm1b(EUCOMM)Hmgu HOM   Early adult 8.84×10-10
increased freezing behavior Ltn1tm1b(EUCOMM)Hmgu HET Early adult 2.40×10-05

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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
meckel's cartilage 0.0%
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Adult LacZ

LacZ Images Section

122 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

X-ray

XRay Images Hind Leg and Hip

46 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

X-ray

XRay Images Forepaw

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

Embryo LacZ

LacZ images wholemount

4 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
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Dystonia, Lower limb muscle weakness, Loss of ability to walk, Atrophy/Dege... ORPHA:225154
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic tetraparesis, Abnormal lower motor neuron morphology, Dystonia, Spastic gait, Hand muscle... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Autosomal Dominant Spastic Paraplegia Type 3
Frequent falls, Spastic gait, Impaired vibratory sensation, Hyperesthesia, Bradykinesia, Lower li... ORPHA:100984
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Tetraparesis, Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Sk... OMIM:613954
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... ORPHA:275872
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Tip-toe gait, Gait disturbance,... OMIM:615643
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Impaired vibratory sensation, Spastic paraparesis, Ankle flexion contracture, Knee ... ORPHA:320370
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Proximal a... OMIM:604484
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Multiple joint contra... ORPHA:521406
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Spastic tetraplegia, I... OMIM:617225
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells, Proximal amyotrophy, Tongue fasciculations, Spi... OMIM:271150
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Hypomimic face, Brady... OMIM:300423
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... OMIM:600116
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Cerebellar atrophy, Hand tremor, Dysmetria, Frequent... OMIM:302800
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Sk... OMIM:615157
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Fasciculations, Degeneration of anterior horn cells, Ataxia, Spinal muscul... OMIM:607596
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Somatic sensory dysfunction, Shuffling gait, Global brain atrophy, Apraxia, Bradyki... OMIM:221820
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Hypomimic fa... OMIM:260300
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Clonus, Axial dystonia, Skeletal muscle atrophy, Tip-toe gait, Head titub... ORPHA:300605
Spinal Muscular Atrophy, Type Iii
Hand tremor, Limb fasciculations, Skeletal muscle atrophy, Degeneration of anterior horn cells, T... OMIM:253400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Scapular winging, Shoulder girdle muscle atrophy, Rimmed vacu... OMIM:167320
Geniospasm 1
Anxiety OMIM:190100
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Spasticity, Babi... OMIM:602099
Spinocerebellar Ataxia Type 20
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... ORPHA:101110
Spinal Muscular Atrophy, Type Ii
Hand tremor, Skeletal muscle atrophy, Degeneration of anterior horn cells, Tongue fasciculations,... OMIM:253550
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal loss in central nervous system, A... OMIM:608030
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Bradykinesia, Ataxia, Progressive cerebe... ORPHA:248111
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Shuffling gait, Muscle fiber atrophy, Ragged... ORPHA:254886
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Atypical Juvenile Parkinsonism
Leg muscle stiffness, Abnormal pyramidal sign, Dystonia, Resting tremor, Short stepped shuffling ... ORPHA:391411
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Dysdiadochokinesis, Bradykinesia, Rigidity, Gait disturbance OMIM:609161
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Cerebral cortical atrophy, Babinski sign, Amyotrophic lateral sclerosis OMIM:615911
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Generalized dystonia, Bradykinesia, Limb dystonia, Rigidity, Hypomimic face, Limb a... OMIM:618824
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Hand muscle atrophy, Lower limb muscle weakness, Vocal co... OMIM:607641
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Progressive distal muscular ... OMIM:159950
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Fasciculations, Degeneration of anterior horn cells, Degeneration of the... OMIM:105400
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Senile plaques, Apraxia, Astrocytosis, Temp... ORPHA:100070
Caribbean Parkinsonism
Action tremor, Dystonia, Parkinsonism, Apraxia, Bradykinesia, EMG: myopathic abnormalities, Weakn... ORPHA:97355
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor ORPHA:65684
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Tremor OMIM:158580
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Spastic Paraplegia 80, Autosomal Dominant
Dystonia, Bradykinesia, Lower limb spasticity, Spastic paraplegia, Babinski sign, Gait disturbanc... OMIM:618418
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Limb muscle weakness, Spasticity, Abnormal upper motor ne... OMIM:614373
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia,... OMIM:261640
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Short stepped shuffling gait, Shuffling gait, Falls, Bradykinesia, Diffuse cerebral... ORPHA:412066
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Abnormal pyramidal sign, Senile plaques, Global brain atroph... ORPHA:282166
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Lethargy, Spasticity, Hemiparesis, Paroxysmal dystonia, Parox... OMIM:606777
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Steppage gait, Paraparesis, Upper limb muscle weakness, Distal sensory... OMIM:302802
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Babinski sign, Gait disturbance, Post... ORPHA:314632
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Global brain atrophy, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsi... OMIM:612953
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Astrocytosis, Rigidity, Cerebral cortical atrophy, Gait disturbance, Neuronal loss in c... OMIM:600795
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Ataxia, S... OMIM:619065
Huntington Disease
Cerebral atrophy, Caudate atrophy, Degeneration of the striatum, Dystonia, Involuntary movements,... ORPHA:399
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Impaired p... ORPHA:98755
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Bradykinesia, Hemidystonia, Short st... OMIM:619052
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Thrombocytopenia, Weight loss ORPHA:517
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Ataxia, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance, Tremor ORPHA:99014
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Ataxia, Chorea OMIM:618317
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Caudate atrophy, Dys... OMIM:617435
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Slender build, Bradykinesia, Increased va... ORPHA:171439
Kufor-Rakeb Syndrome
Leg muscle stiffness, Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxi... OMIM:606693
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Machado-Joseph Disease
Cerebellar atrophy, Spinocerebellar tract degeneration, Dystonia, Parkinsonism, Impaired vibrator... OMIM:109150
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Generalized dystonia, Focal dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Limb... ORPHA:101150
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Spinocerebellar tract degeneration, D... ORPHA:276244
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Imp... ORPHA:95434
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity, Skeletal muscle atrophy OMIM:614808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Bradykines... OMIM:258450
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Cerebral cortica... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Cerebral cortica... OMIM:616437
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Hypomimic face, Bradykinesia, Ataxia, Lar... OMIM:606159
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... ORPHA:157941
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Hypomimic face, Torticollis, Tremor OMIM:128235
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Spastic paraparesis, Ataxia, Short stature, Gait disturbance, Hemiplegia... ORPHA:2815
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Lethargy, Spast... ORPHA:71277
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Spasticity, Babinski sign, Skeletal muscle atrophy OMIM:612069
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Somatic sensory dysfunction, Flexion contracture, Impaired vibratory sensation, H... ORPHA:99947
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Difficulty walk... ORPHA:306669
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation,... OMIM:616924
Corticobasal Syndrome
Parkinsonism, Dystonia, Somatic sensory dysfunction, Involuntary movements, Bradykinesia, Limb ap... ORPHA:454887
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Rimmed vacuoles, Unsteady gait, Abnor... ORPHA:600
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Bradykinesia, Increased variabi... ORPHA:171442
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia,... OMIM:300055
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal m... ORPHA:101077
Spastic Paraplegia 2, X-Linked
Dysmetria, Spastic gait, Spinocerebellar tract degeneration, Flexion contracture, Skeletal muscle... OMIM:312920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fasciculations, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities, Gen... ORPHA:52430
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Short stature, Rigidity, Tremor OMIM:617836
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Bradykinesia, Axial muscle stiffness, Rigidity, Parkinsonism with favorable resp... ORPHA:240085
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic tetraparesis, Foot dorsiflexor weakness, Progressive spastic parapare... ORPHA:496756
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Spinocerebellar Ataxia 2
Dysmetria, Spinocerebellar tract degeneration, Action tremor, Parkinsonism, Impaired vibratory se... OMIM:183090
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Hypermanganesemia With Dystonia 2
Dystonia, Opisthotonus, Scissor gait, Ankle clonus, Tremor, Cerebellar atrophy, Tip-toe gait, Ach... OMIM:617013
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis, Difficulty walking OMIM:608634
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Skeletal muscle atrophy, Spastic dys... ORPHA:247604
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:444099
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia... ORPHA:238455
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... ORPHA:726
Nemaline Myopathy 2
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Arthrogrypos... OMIM:256030
Porphyria, Acute Hepatic
Paresthesia, Failure to thrive, Respiratory paralysis, Paralysis OMIM:612740
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Skeletal muscle atrophy, Lethargy, Difficulty walking, Contractures of the joints of t... OMIM:613710
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Fasciculations, Neuronal loss in central nervous system, Postural tremor... OMIM:608627
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Babinski sign, Spastic ataxia OMIM:613672
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Parkinsonism With Polyneuropathy
Resting tremor, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable res... OMIM:619279
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Paralysis, Skeletal muscle atrophy, Knee flexion contractur... OMIM:616286
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Apraxia, Lower limb muscle weakness, Bradykinesia, Gait ataxia,... OMIM:137440
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Gait disturbance,... ORPHA:275864
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Cerebral atrophy, Hypertonia, Hemiballismus, Dystonia, Parkinsonism, Choreoathetosis, Bradykinesi... OMIM:618877
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Increased variability in muscle fiber diameter, ... ORPHA:401768
Mast Syndrome
Apraxia, Lower limb muscle weakness, Spastic paraparesis, Spastic paraplegia, Gait disturbance, B... OMIM:248900
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Degeneration of anterior horn cells, Tongue fas... OMIM:301830
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Bradykinesia, Resting tremor, Tremor OMIM:616710
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Respiratory di... ORPHA:673
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Broad-based gait, Hyper... OMIM:617384
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Diffuse cerebral atrophy, S... ORPHA:363654
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Small for gestational age, Oculogyric crisis, Bradykinesia, Limb hypertonia, Growth del... ORPHA:70594
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Niemann-Pick Disease, Type B
Splenomegaly, Dyspnea, Anemia, Bone-marrow foam cells, Decreased DLCO, Hypertriglyceridemia, Incr... OMIM:607616
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic gait, Flexion contracture, Upper limb spasticity, Lower li... OMIM:275900
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Ragged-red muscle fibers, Bradykinesia, Failure to thrive OMIM:614924
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Skeletal muscle atrophy, Spasticity, Neurodegeneration, Amyotrop... ORPHA:803
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Small for gestational age, Degeneration of anterior horn cells, ... OMIM:604320
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Increased variability in muscle fiber diameter, Hand musc... OMIM:606070
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Degeneration of anterior horn cells, Ankle flexio... ORPHA:1145
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Dystonia, Choreoathetosis, Oculogyric crisis, Bradykinesia, Ataxia, Rigidity, Clonu... ORPHA:13
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Chorea, Benign Hereditary
Anxiety OMIM:118700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism, Rhabdomyolysis, Resting tremor, Skeletal muscle atrophy, Muscle fiber necrosis, Rag... OMIM:157640
Acute Peripheral Arterial Occlusion
Impaired distal tactile sensation, Paralysis, Limb muscle weakness, Paresthesia ORPHA:90064
Spastic Paraplegia, Epilepsy, And Mental Retardation
Lower limb muscle weakness, Spastic paraparesis, Spastic paraplegia OMIM:182610
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Focal dystonia, Shuffling gait, Bl... ORPHA:53351
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Dysmetria, Dystonia, Bradykinesia, Ataxia, Gait ataxia, Hemiparesis, Truncal atax... OMIM:601338
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Action tremor, Dysmetria, Resting tremor, Parkinsonism, Intention tremor, Bra... OMIM:300623
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Parkinsonism, Decreased ... OMIM:617672
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Impaired temperat... DECIPHER:29
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Refractory Anemia
Normocytic anemia, Dyspnea, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadeq... ORPHA:98826
Adrenoleukodystrophy
Incoordination, Lower limb muscle weakness, Spastic paraplegia, Paraparesis, Truncal ataxia, Neur... OMIM:300100
Leber Optic Atrophy And Dystonia
Dystonia, Skeletal muscle atrophy, Bradykinesia, Athetosis, Upper motor neuron dysfunction, Spast... OMIM:500001
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Proximal muscle weakness in lower limb... OMIM:619733
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Extramedullar... OMIM:615285
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Tremor OMIM:312910
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Neuroferritinopathy
Parkinsonism, Caudate atrophy, Resting tremor, Dystonia, Focal dystonia, Blepharospasm, Involunta... ORPHA:157846
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Bradykinesia, Gait ataxia, Impaired distal vibration sensation, Short stature... ORPHA:98768
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Parkinsonism, Lower limb muscle weakness, Obesity, Inability to walk,... ORPHA:2822
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Frequent falls, Flexion contracture, Impaired vibratory ... ORPHA:101097
Pleoconial Myopathy With Salt Craving
Paralysis, Proximal amyotrophy, Myopathy OMIM:262900
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Paralysis, Ataxia, Paraparesis, Hemiparesis ORPHA:140989
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Spasticity, Ataxia OMIM:617854
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Ataxia, Poor fine motor co... ORPHA:36387
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Peroneal muscle atrophy, Degeneration of anterior horn cells, Peroneal muscle weakn... OMIM:118301
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Hypoxemia, Tachypnea, Anisocytosis, Spher... ORPHA:71275
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Vocal cord paresis, Impaired distal tactile sensation, Impaired pain sensation, I... ORPHA:99948
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Mitochondrial Membrane Protein-Associated Neurodegeneration
Frequent falls, Hand tremor, Dystonia, Parkinsonism, Shuffling gait, Spastic paraparesis, Bradyki... ORPHA:289560
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Paralysis, Astrocytosis, Ataxia, Failure to thrive, Gliosis, Neuronal loss in... OMIM:203700
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Freezing of gait, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Ragged-red muscle fibers, Poor motor ... OMIM:500003
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Skeletal muscle atrophy, Increased intramyocellular lipi... OMIM:614487
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Axial dystonia, Falls, Blepharospasm, Bradykines... ORPHA:240071
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Hypomimic face, Bradykinesia, Gait disturbance, Gait atax... ORPHA:225147
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Autosomal Dominant Dopa-Responsive Dystonia
Abnormality of extrapyramidal motor function, Parkinsonism, Progressive flexion contractures, Gen... ORPHA:98808
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:102
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Dyspnea, Acute leukemia, Thrombocyt... ORPHA:231401
Hereditary Late-Onset Parkinson Disease
Frequent falls, Dystonia, Resting tremor, Parkinsonism, Shuffling gait, Bradykinesia, Akinesia, R... ORPHA:411602
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Gliosi... ORPHA:683
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Idiopathic Camptocormia
Cerebral atrophy, Syringomyelia, Dystonia, Parkinsonism, Abnormal muscle fiber dysferlin, Myositi... ORPHA:1320
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:227510
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
X-Linked Adrenoleukodystrophy
Incoordination, Leg muscle stiffness, Paralysis, Somatic sensory dysfunction, Gait disturbance, P... ORPHA:43
Myelopathy, Htlv-1-Associated
Myelopathy, Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Dravet Syndrome
Incoordination, Action tremor, Parkinsonism, Global brain atrophy, Bradykinesia, Cogwheel rigidit... ORPHA:33069
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Global brain atrophy, Phonic tics, Decreased muscle mass, Abnormality of extrapyramidal... OMIM:234200
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Postnatal growth retard... ORPHA:391417
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Neurodegene... OMIM:272750
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:98933
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Machado-Joseph Disease Type 1
Cerebellar atrophy, Spinocerebellar tract degeneration, Degeneration of the striatum, Dystonia, A... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Spinocerebellar tract degeneration, Degeneration of the striatum, Dystonia, A... ORPHA:276241
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Spastic dysarthria, Lower limb muscle weakness, Spastic ... ORPHA:313772
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:173590
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Intention tremor, ... OMIM:610217
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Arnold-Chiari Malformation Type Ii
Hand muscle atrophy, Myelomeningocele, Opisthotonus, Syringomyelia, Somatic sensory dysfunction, ... ORPHA:1136
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Vocal cord paralysis, Progressive cer... ORPHA:98757
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Cerebra... OMIM:606353
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Progressive flexion contractures, Global brain atrophy, Spastic parapare... OMIM:260600
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Steppage gait, Rigidity, Poor fine mot... OMIM:613280
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, D... OMIM:215470
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Slender build, Astrocytosis, Inability to walk, Difficulty walking OMIM:611087
Diaminopentanuria
Spasticity, Ataxia, Neurodegeneration OMIM:222350
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Parkinson Disease, Late-Onset
Parkinsonism, Dystonia, Resting tremor, Short stepped shuffling gait, Bradykinesia, Substantia ni... OMIM:168600
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Leukocytosis, Elevated circulating creatinine... ORPHA:90060
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Ataxia, Lethargy, Paraparesis ORPHA:27
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Rett Syndrome
Dystonia, Motor stereotypy, Stereotypical hand wringing, Skeletal muscle atrophy, Bradykinesia, I... ORPHA:778
Peroxisome Biogenesis Disorder 8B
Dysmetria, Cerebellar vermis atrophy, Spastic paraparesis, Ataxia, Failure to thrive, Spasticity,... OMIM:614877
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Dystonia, Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Rigid... OMIM:608804
Parkinsonian-Pyramidal Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Intention tremor, Bradykinesia, ... ORPHA:171695
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume, Epistaxis OMIM:615193
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Lower limb amyotrophy, Dystonia, Intention tremor, Bradykinesia, ... ORPHA:466722
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance ORPHA:67047
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Astrocytosis, Spastic paraparesis, Bradykinesia, Hypomimic face, Gait di... ORPHA:309854
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Difficulty walking OMIM:605285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Lo... OMIM:619566
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ataxia, Myopathy, Spasticity, Gait disturbance OMIM:125250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Restrictive ventilatory defect, Hepatosplenomegaly,... ORPHA:210136
Perry Syndrome
Parkinsonism, Dystonia, Short stepped shuffling gait, Bradykinesia, Akinesia, Rigidity, Weight lo... OMIM:168605
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Vocal cord paresis, Loss of a... ORPHA:98897
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Vocal cord paresis, Sensory ataxia, Limb muscle weakness, Distal sensory... OMIM:614895
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Sengers Syndrome
Respiratory insufficiency, Developmental cataract, Thrombocytopenia OMIM:212350
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, Thrombocytopenia, Epist... OMIM:605249
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness, Hypoesthesia, Hand paresthesia OMIM:162500
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Impaired distal proprio... OMIM:607459
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Skeletal muscle atrophy, Bradykinesia, Ataxia, Rigidity, Neurodegeneration, Babinsk... OMIM:146500
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Resting tremor, Oculogyric crisis, Involuntary movements, Bradykinesia, ... ORPHA:97349
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Gray Platelet Syndrome
Epistaxis, Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Frequent falls, Right ventricular hypertrophy, Increased endomysial ... ORPHA:353
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic tetraparesis, Dystonia,... OMIM:612319
Primary Progressive Freezing Gait
Frequent falls, Shuffling gait, Bradykinesia, Rigidity, Cerebral cortical atrophy, Clonus, Babins... ORPHA:75567
Autosomal Dominant Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Cogwheel rigidity, Limb muscle weakness, Left ventricular hypertrophy, ... ORPHA:254892
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... ORPHA:238329
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Tachypnea, Anisocytosis, Respiratory failure, Atelectasis, Fail... OMIM:618278
Poliomyelitis
Paralysis, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Lower limb muscle weakne... ORPHA:2912
3-Methylglutaconic Aciduria Type 4
Cataract, Failure to thrive, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Impaired vibratory sensation, Spastic paraparesis, Thenar muscle atrophy... OMIM:500013
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Leg dystonia, Bradykinesia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Frequent falls, Scapular winging, Foo... OMIM:603689
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Delayed puberty, Ataxia, Short stature, Cerebral cortica... OMIM:607694
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Tibialis atrophy, Spastic ... ORPHA:101076
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Unsteady gait, My... OMIM:612937
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Flexion contracture, Neurodegenera... OMIM:615491
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Abnormal platelet granules, Neutropenia, Respiratory distr... ORPHA:238459
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Joint contracture of the hand, Scapuloperoneal amyotrophy... OMIM:611067
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... ORPHA:1878
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Epistaxis OMIM:613554
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Short stature, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Supranuclear Palsy, Progressive, 1
Parkinsonism, Axial dystonia, Bradykinesia, Gliosis, Akinesia, Limb dystonia, Gait imbalance, Rig... OMIM:601104
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Manganese Poisoning
Dystonia, Bradykinesia, Akinesia, Cogwheel rigidity, Postural tremor, Gait disturbance, Abnormali... ORPHA:306682
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Rigidity, Gait disturbance,... OMIM:168601
Omenn Syndrome