Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
Synonyms:
Sema IV,  Semak

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Sema3ftm1b(EUCOMM)Hmgu HOM   Early adult 4.16×10-05
increased startle reflex Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 3.02×10-14
tremors Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 7.46×10-05
abnormal nail morphology Sema3ftm1b(EUCOMM)Hmgu HOM   Early adult 1.13×10-05
decreased circulating total protein level Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 4.01×10-05
decreased circulating serum albumin level Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 5.77×10-05
abnormal gait Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 1.94×10-07
iris synechia Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 8.58×10-05
cataract Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 7.40×10-06
increased circulating iron level Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 2.51×10-07
preweaning lethality, incomplete penetrance Sema3ftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
limb grasping Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 1.86×10-10

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

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

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

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

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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Sema3f 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 Sema3f by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Elevated circulating creatine kinase concent... OMIM:160120
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Elevated circulating creatine ki... OMIM:208920
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Memory impairment, Dementia, Abnormal pyramida... ORPHA:85292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Cognitive impairme... ORPHA:401901
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:615048
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia OMIM:611105
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Elevated circulating creatine kinase concentra... ORPHA:64753
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait ... OMIM:213600
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Tetraplegia, Cognitive impairment, Dystonia, Ataxia, Elevated circulating alp... OMIM:616267
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor OMIM:312910
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ... OMIM:617542
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Dystonia 28, Childhood-Onset
Tip-toe gait, Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, ... OMIM:617284
Adult Neuronal Ceroid Lipofuscinosis
Dementia, Abnormality of extrapyramidal motor function, Mental deterioration, Spasticity, Tremor,... ORPHA:79262
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Spastic dysarthria, Ataxia, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Hypertonia, Hypoproteinemia, Tremor OMIM:608093
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Memory impairment, Tremor, Elevated circulating creatine kinase concentration... OMIM:614018
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Peripheral axonal neuropathy, Facial palsy, Hypoplastic anteri... OMIM:600638
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hypertonia, Increase... OMIM:267700
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron ... ORPHA:216873
Dysequilibrium Syndrome
Cataract, Ataxia, Cerebral palsy, Gait disturbance ORPHA:1766
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Lissencephaly, X-Linked, 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:300067
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Optic Atrophy 3, Autosomal Dominant
Cataract, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Periventricular lamin... OMIM:611603
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Spinocerebellar Ataxia Type 12
Bradykinesia, Dementia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Abnormality of extrapyramidal motor function, Depression, Confusion, Tre... OMIM:615362
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T... OMIM:615924
Lymphangiectasia, Intestinal
Stillbirth, Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Chudley-Mccullough Syndrome
Hydrocephalus, Polymicrogyria, Gray matter heterotopia OMIM:604213
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Hyperphenylalaninemia, Tremor, Transient hyperphenylalaninemia OMIM:264070
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Hyperphenylalaninemia, Tremor, Dystonia, Progressive neurologic deterio... OMIM:261630
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Optic nerve hypoplasia, Neurogenic bladder, Pachygyria, Abnormality of the ... ORPHA:572013
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Hemiplegia/hemiparesis, Ataxia, Cataract, Spastic paraparesis ORPHA:2815
Dystonia 12
Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki... OMIM:128235
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Depression, Spasticity, Tremor, I... OMIM:614307
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Memory impairment, Depression, Spasticity, Limb dystonia, Gait ataxia... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cognitive impairment, Unsteady ga... OMIM:615768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Migraine, Familial Hemiplegic, 1
Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Depression, Tremor, Myoclonus OMIM:159900
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin... OMIM:128230
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cataract, Hand tremor, Progressive spastic paraplegia ORPHA:401830
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Dementia, Oromotor apraxia, Progressive extrapyramidal musc... ORPHA:454887
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Saccharopinuria
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Cognitive impai... ORPHA:3124
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hypertonia, Tetraplegia, Hypoproteinemia, Hemiplegia, Increas... OMIM:603553
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating creatine k... ORPHA:276435
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Mental deterioration, Myoclonus OMIM:616187
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Head tremor, Actio... OMIM:604326
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Broad-based gait OMIM:618805
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Dementia, Subcortical dementia, Chorea, Spasticity, ... OMIM:606159
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Phenylketonuria
Lower limb spasticity, Depression, Hyperphenylalaninemia, Tremor, Short attention span, Ataxia, D... ORPHA:716
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Mental deterioration, Spasticity, Tremor, Frequent fa... OMIM:611302
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Abnormal circulating cholesterol concentratio... OMIM:270800
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Aceruloplasminemia
Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwheel rigidi... OMIM:604290
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Elevated circulating creatine kinase concentration, Gait ataxia, Ataxia, D... OMIM:618387
Spinocerebellar Ataxia 48
Babinski sign, Irritability, Depression, Chorea, Mental deterioration, Tremor, Gait ataxia, Dysto... OMIM:618093
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Agenesis of the anterior commis... ORPHA:300570
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:616710
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Dementia,... OMIM:614409
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Classic Phenylketonuria
Hypertonia, Hypopigmentation of hair, Memory impairment, Paraplegia, Depression, Mental deteriora... ORPHA:79254
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Tremor, Ataxia OMIM:278780
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Hypermanganesemia With Dystonia 2
Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Hypermanganesemia, Tip-toe gait, ... OMIM:617013
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Memory impairment, Depression, Falls, Tremor, Parkinsonism with favorable response ... ORPHA:240085
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Myoclonus, Postural tremor, Hypoalbu... OMIM:254900
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Cognitive impairm... OMIM:615528
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturban... OMIM:617145
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Spasticity, Unsteady gait, Memory impairment OMIM:620312
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Inability to walk, Hypopigmentation of hair, Hypoproteinemia, Tremor, Gait ... ORPHA:167
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Band Heterotopia
Hydrocephalus, Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:600348
Acalvaria
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida ORPHA:945
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Spasticity, Frequent falls, Gait ... OMIM:614877
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Emotional lability, Depression, Craniofacial dystonia,... ORPHA:71517
Diarrhea 13
Hypoalbuminemia OMIM:620357
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor, Waddling gait, Inability to walk OMIM:616269
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Dementia, Tongue fasciculations, Tremor, Elevated circulating creatine kinase... OMIM:159950
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Developmental cataract, Ataxia ORPHA:1368
Huntington Disease-Like 2
Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Action t... OMIM:606438
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Dysdiadocho... OMIM:224050
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Tremor,... ORPHA:98764
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Rigidity, Dystonia, Parkinsonism, Dementia OMIM:605909
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy... OMIM:617916
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Urocanic Aciduria
Abnormal circulating histidine concentration, Broad-based gait, Truncal ataxia, Gait ataxia, Acti... ORPHA:210128
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Parkinson Disease 14, Autosomal Recessive
Frontotemporal dementia, Rigidity, Clumsiness, Pill-rolling tremor, Eyelid myoclonus, Axial dysto... OMIM:612953
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Lower limb spasticity, Elevated circulating creatine kinase concentration, Gait dis... OMIM:617404
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid... ORPHA:240103
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Developmental And Epileptic Encephalopathy 35
Cataract, Irritability, Limb tremor OMIM:616647
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Autosomal Recessive Spastic Paraplegia Type 46
Babinski sign, Difficulty walking, Spastic dysarthria, Lower limb spasticity, Broad-based gait, T... ORPHA:320391
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Hyperphenylalaninemia, Tremor, Rigidity,... OMIM:261640
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Short attention span, Ataxia, Myoclonus, Impaired tandem gait, Dys... OMIM:619028
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Increased serum pyruvate, Titubation, Elevated circulating creatine kinase concentration,... OMIM:619405
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Aceruloplasminemia
Chorea, Gait ataxia, Cognitive impairment, Aceruloplasminemia, Rigidity, Ataxia, Decreased circul... ORPHA:48818
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait atax... ORPHA:254881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Autosomal Dominant Spastic Paraplegia Type 9B
Spastic gait, Babinski sign, Spastic dysarthria, Dementia, Upper motor neuron dysfunction, Focal ... ORPHA:447757
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Infantile Neuronal Ceroid Lipofuscinosis
Dementia, Chorea, Spasticity, Tremor, Poor fine motor coordination, Motor deterioration, Myocloni... ORPHA:79263
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Cataract 11, Multiple Types
Cataract, Chorea, Hypertonia, Developmental cataract OMIM:610623
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Decreased serum creatinine, Progressive e... OMIM:612736
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal... OMIM:613280
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Elevated circulating creatine kinase concentration, Waddl... ORPHA:209335
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Cognitive impairment, Gait distu... OMIM:612067
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Tremor, Heterochromia iridis ORPHA:66633
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Involun... ORPHA:401768
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... OMIM:615191
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Pachygyria, Lis... OMIM:618325
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Depression, Tremor, Cognitive impairment, Ataxia, Spastic ataxia, Un... OMIM:616795
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Chronic Bilirubin Encephalopathy
Hypertonia, Conjunctival icterus, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hyp... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Conjunctival icterus, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hyp... ORPHA:529799
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Leukoencephalopathy With Calcifications And Cysts
Emotional lability, Spasticity, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Ataxia,... ORPHA:542310
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Spasticity, Tremor, Mental deterioration OMIM:609260
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ch... ORPHA:157846
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Depression, ... OMIM:614298
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Hypoproteinemia, Microcoria, Hypoplasia of ... OMIM:609049
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Hirsutism, Tremor, Gait ataxia, Intention t... OMIM:610185
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypocalcemia, Chvostek sign, Cataract, Hyperphosphatemia OMIM:146200
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Pro... ORPHA:284289
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Myoclonus, Loss of ambulation, Parkinsonism, Dement... OMIM:204200
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis ORPHA:101077
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Inability to walk, Tremor, Elevated circulating creatine kinase concentration ORPHA:90117
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Spinocerebellar Ataxia 50
Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Mental deterioration, Dysdiadochokinesis, Tremor, U... ORPHA:289494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypertonia, Hypopigmentation of hair, Microcornea, Gait disturbance, Iris hypopigmentation, Anter... ORPHA:3214
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Dengue Fever
Hypoproteinemia ORPHA:99828
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tr... ORPHA:3077
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Juvenile cataract, Resting tremor, Emotional ... OMIM:300055
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Hsd10 Disease
Tremor, Short attention span, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis,... ORPHA:391417
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Progressive psychomotor deterioration, Spasticity, Tremor, Poor motor coord... ORPHA:363400
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hypertrichosis OMIM:235255
Johanson-Blizzard Syndrome
Hypoproteinemia, Abnormal hair pattern, Alopecia ORPHA:2315
Hyperphenylalaninemia, Bh4-Deficient, B
Irritability, Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, D... OMIM:233910
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Cataract, Abnormal circulating creatin... ORPHA:369840
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Mental deterioration OMIM:617575
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Irritability, Progressive cerebellar ataxia, Spastic dysarthria, Spa... ORPHA:282166
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Cognitive impairment, Rigidity, Ataxia, Dementia OMIM:603472
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Dystonia, Ataxia, ... OMIM:619738
Autosomal Recessive Spastic Paraplegia Type 26
Babinski sign, Lower limb spasticity, Gait disturbance, Dystonia, Cataract, Pseudobulbar paralysis ORPHA:101006
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Adult-Onset Distal Myopathy Due To Vcp Mutation
Difficulty walking, Fasciculations, Depression, Tremor, Frequent falls, Parkinsonism, Progressive... ORPHA:329478
Usher Syndrome Type 3
Astigmatism, Depression, Iris hypopigmentation, Ataxia, Cataract ORPHA:231183
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Tremor, Ataxia, Spasticity OMIM:300983
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypertonia, Hypopigmentation of hair, Spasticity, Tremor, Rigidity, At... ORPHA:33445
Late-Infantile/Juvenile Krabbe Disease
Irritability, Difficulty walking, Lower limb spasticity, Emotional lability, Mental deterioration... ORPHA:206443
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Dementia, Spasticity, Parkinsonis... OMIM:606693
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Congenital Bile Acid Synthesis Defect Type 4
Memory impairment, Depression, Tremor, Elevated circulating creatine kinase concentration, Ataxia... ORPHA:79095
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Aicardi-Goutieres Syndrome 6
Irritability, Tremor, Rigidity, Dystonia, Loss of ambulation OMIM:615010
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract, Inability to walk, Ataxia, Elevated circulating creatine kinase concentration OMIM:615350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Shallow anterior chamber, L... OMIM:221900
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Memory impairment, Depression, Truncal ataxia, Spasticity, Tr... OMIM:137440
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat... OMIM:618598
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Aicardi-Goutieres Syndrome 9
Irritability, Hypertonia, Spasticity, Chorioretinal atrophy, Spastic tetraparesis, Lower limb hyp... OMIM:619487
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Oculomotor apraxia, Spasticity, Tremor, Poor motor coordin... ORPHA:1170
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Memory impairment, Resting tremor, Depression, Poor fine motor coordination, Dysdia... OMIM:300623
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Confusion, Myoclonic spasms, Hypoc... ORPHA:36913
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response, Rigidity ORPHA:3198
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Tay-Sachs Disease
Fasciculations, Incoordination, Decerebrate rigidity, Myoclonus, Clumsiness, Mania, Memory impair... ORPHA:845
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Dementia, Memory... ORPHA:101
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hypertrichosis ORPHA:1655
Phenylketonuria
Irritability, Depression, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention defici... OMIM:261600
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Astigmatism, Inability to walk, Tremor, Ataxia, Attention deficit hyperactivity disorder OMIM:619556
Baralle-Macken Syndrome
Inability to walk, Spasticity, Hirsutism, Dystonia, Cataract OMIM:619255
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Wilson Disease
Sunflower cataract, Decreased circulating ceruloplasmin concentration, Dementia, Hypouricemia, Hy... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Neonatal death OMIM:608104
Galloway-Mowat Syndrome 1
Spasticity, Hypoplasia of the iris, Dystonia, Ataxia, Cataract, Hypoalbuminemia, Opacification of... OMIM:251300
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Ataxia With Vitamin E Deficiency
Hypertonia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemipa... ORPHA:96
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, Ataxia, Unsteady ga... OMIM:614867
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Depression, Mental deterioration, Tremor, In... OMIM:312080
Abetalipoproteinemia
Babinski sign, Decreased HDL cholesterol concentration, Steppage gait, Hypotriglyceridemia, Corne... ORPHA:14
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Gait disturbance, Spastic paraplegia, Cataract, P... OMIM:616586
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Omenn Syndrome
Hypoproteinemia, Alopecia OMIM:603554
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Spasticity, Subcapsular cataract, Intention tremor, Ataxia, Cataract, Dysmetria OMIM:612674
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis ORPHA:329284
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Muscle-Eye-Brain Disease
Hypertonia, Elevated circulating creatine kinase concentration, Gait disturbance, Cognitive impai... ORPHA:588
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Sneddon Syndrome
Memory impairment, Chorea, Tremor, Hemiparesis, Dementia, Mental deterioration ORPHA:820
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Prune1-Related Neurological Syndrome
Inability to walk, Tongue fasciculations, Spastic tetraparesis, Elevated circulating creatine kin... ORPHA:544469
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Truncal ataxia, Poo... ORPHA:137898
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Chorioretinal atrophy, P... OMIM:612109
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Classic Galactosemia
Gait imbalance, Depression, Incoordination, Clumsiness, Gait disturbance, Action tremor, Speech a... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Depression, Emotional lability, Falls, Tremor, Ble... ORPHA:683
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Dementia... ORPHA:52368
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Irritability, Inability to walk, Chorea, Confusion... OMIM:607483
Liver Failure, Infantile, Transient
Hypoalbuminemia, Irritability, Hyperbilirubinemia OMIM:613070
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Corneal erosion, Decreased circulating carnitine concentration, Depression, Decreased circulating... ORPHA:89842
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, ... OMIM:300894
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Chorioretinal hy... OMIM:617303
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Incoordination, Tremor, Frequent falls, Parapare... OMIM:302800
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cognitive impairment, Dysto... ORPHA:309246
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Leukodystrophy, Hypomyelinating, 13
Irritability, Hypertonia, Lower limb spasticity, Spasticity, Exaggerated startle response, Clonus... OMIM:616881
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Spasticity, Hyperalaninemia, Progressive neurologic deterioratio... OMIM:618329
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Clonus, Neonatal death, Myoclonus, Spastic te... OMIM:619055
Usher Syndrome Type 1
Cataract, Iris hypopigmentation, Ataxia, Depression ORPHA:231169
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lissencephaly ORPHA:300573
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Cognitive impairment, R... ORPHA:70594
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Deme... OMIM:183090
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Irritability, Hypertonia, Oculogyric crisis, Hyperphenylalaninemia, Tremor, Cerebral palsy, Abnor... ORPHA:1578
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Gait disturbance, Gait ataxi... ORPHA:3095
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Dementia, Abnormal pyramidal sign OMIM:260540
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Hypoalbuminemi... ORPHA:247353
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Dementia, Resting tremor, Depression, Shuffling gait, Gait disturbance, Rigidity, D... OMIM:168601
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... ORPHA:209959
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Congenital Disorder Of Glycosylation, Type Ia