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
increased startle reflex Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 3.02×10-14
decreased exploration in new environment Sema3ftm1b(EUCOMM)Hmgu HOM   Early adult 4.16×10-05
abnormal nail morphology Sema3ftm1b(EUCOMM)Hmgu HOM   Early adult 1.13×10-05
preweaning lethality, incomplete penetrance Sema3ftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating iron level Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 2.51×10-07
abnormal cornea morphology Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 8.74×10-05
abnormal gait Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 1.97×10-07
cataract Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 1.27×10-05
limb grasping Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 1.86×10-10
decreased circulating total protein level Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 3.83×10-05
decreased circulating serum albumin level Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 5.49×10-05
tremors Sema3ftm1b(EUCOMM)Hmgu HOM Early adult 7.53×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

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 Wholemount

20 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 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
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... OMIM:208920
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... OMIM:614561
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... ORPHA:85292
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Hypoproteinemia, Tremor, Cataract, Aggressive behavior OMIM:608093
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis OMIM:312910
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking OMIM:615048
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity OMIM:611105
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... OMIM:617284
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Memory impairme... ORPHA:401901
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
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
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Irritability, Cognitive impairment, Emotional lability, Abnor... ORPHA:216873
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria OMIM:615938
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Steppage gait ORPHA:94124
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Mental deterioration, Dysdiadochokinesi... OMIM:213600
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Lissencephaly, X-Linked, 1
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Cataract ORPHA:1766
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Memory... OMIM:614018
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality o... OMIM:615362
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Irritability, Hypop... OMIM:267700
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... ORPHA:98762
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Cataract ORPHA:2815
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Polymicrogyria OMIM:604213
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, M... ORPHA:247585
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceride... OMIM:615924
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Stillbirth, Abnormal hair morphology OMIM:152800
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Hyperphenyl... OMIM:261630
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Tremor, Ataxia, Myoclonus OMIM:616187
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Myopathy, Spheroid Body
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait OMIM:182920
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria OMIM:614115
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... OMIM:615768
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Dementia OMIM:615889
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Urocanase Deficiency
Ataxia, Fair hair, Blue irides, Tremor, Aggressive behavior OMIM:276880
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Progressive spastic paraplegia, Cataract, Lower limb spasticity ORPHA:401830
Glutathionuria
Tremor OMIM:231950
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Memory impairment, Sp... ORPHA:251282
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Cataract, Hypoalbuminemia OMIM:618805
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Mental deterioration, Spastic diplegia, Cognitive impairment, Tre... ORPHA:3124
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... ORPHA:306692
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... OMIM:618387
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Difficulty walking, Cataract, Spasticity, Irritability OMIM:617393
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... ORPHA:314632
Spinocerebellar Ataxia Type 28
Limb ataxia, Cognitive impairment, Babinski sign, Rigidity, Parkinsonism, Head tremor, Memory imp... ORPHA:101109
Dystonia 12
Torticollis, Bradykinesia, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional lability, Dyst... OMIM:128235
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Irritability, Hypop... OMIM:603553
Spastic Paraplegia 5A, Autosomal Recessive
Upper limb spasticity, Cognitive impairment, Babinski sign, Spastic paraplegia, Limb dysmetria, A... OMIM:270800
Neurodegeneration With Brain Iron Accumulation 3
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... OMIM:606159
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Progressive neurologic deterioration, T... OMIM:261640
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spasticity, Cata... OMIM:614307
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Tip-toe gait, Babinski sign, Spastic paraplegia, Frequent falls, Difficulty wa... OMIM:609195
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Abnormal a... ORPHA:300570
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Cataract, Spasticity OMIM:278780
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Anxi... OMIM:604326
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Elevated circulating creatine kinase concentration, Gait disturbance, Cataract, Low... OMIM:617404
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Aceruloplasmine... OMIM:604290
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Reduced haptoglobin level, Dystonia, Irritability OMIM:612126
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Mental det... ORPHA:240085
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spastic Paraplegia 46, Autosomal Recessive
Upper limb spasticity, Upper limb dysmetria, Ankle clonus, Knee clonus, Babinski sign, Mental det... OMIM:614409
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Hypermanganesemia With Dystonia 2
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Opisthotonus, Elevated circu... OMIM:617013
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... OMIM:617145
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, Ga... ORPHA:98763
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hypoproteinemia, Cogniti... ORPHA:167
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, ... OMIM:242150
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... ORPHA:210128
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Classic Phenylketonuria
Hemiplegia, Hypertonia, Self-injurious behavior, Mental deterioration, Hypopigmentation of hair, ... ORPHA:79254
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Babinski sign, Parkinsonism, Anxiety, Chorea, Tremor, Ga... OMIM:618093
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Developmental cataract, Tremor ORPHA:1368
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Aggressive behavior... OMIM:612716
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Cognitive impairment, Pill-rolling tremor, Limb hypertonia, Abn... OMIM:615528
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, C... OMIM:224050
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia, Memory impairment ORPHA:79234
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Dystonia, Irritability, Dementia OMIM:606438
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... OMIM:607346
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... ORPHA:98764
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... ORPHA:48818
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Babinski sig... OMIM:617225
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Tremor, Spasticity, Loss of ambulation, Axial dystonia, Resting tremor, Han... OMIM:612953
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Cognitive impairment, Babinski sign, Abnormal pyramidal sign, Truncal a... ORPHA:320391
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia ORPHA:79320
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Autosomal Dominant Spastic Paraplegia Type 9B
Loss of ambulation, Babinski sign, Progressive neurologic deterioration, Spastic dysarthria, Deve... ORPHA:447757
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Anxiety, Parkinsonism, Craniofacial dystonia, Gait ata... ORPHA:71517
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Mental deteriora... ORPHA:99750
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... OMIM:233910
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Developmental And Epileptic Encephalopathy 35
Limb tremor, Cataract, Irritability OMIM:616647
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... ORPHA:79263
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign, Dementia OMIM:301840
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Mental deterioration, Myoclonus, Limb myoclonus, Frequent falls, T... ORPHA:2590
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Tremor, Sp... OMIM:164500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Anxiety, Rigidity, Parkinsonism, Dystonia, Dementia OMIM:605909
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Anxiety, Dystonia OMIM:619651
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Galloway-Mowat Syndrome 6
Motor stereotypy, Hypoalbuminemia OMIM:618347
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Myoclonus, Anxiety, Parkinsonism, Cataract, Psychomotor deterioration, Abnorm... OMIM:204200
Omenn Syndrome
Hypoproteinemia, Alopecia OMIM:603554
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology,... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology,... ORPHA:529808
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Cognitive impairment, Abnormal pyramidal sign, Par... OMIM:612067
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Dopa-Responsive Dystonia
Leg dystonia, Agoraphobia, Inability to walk, Irritability, Poor coordination, Abnormality of ext... ORPHA:255
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Cataract, Sp... OMIM:616586
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Elevated circulating creatine kinase concentration, Inability to walk, Limb fasciculations ORPHA:90117
Chorea, Remitting, With Nystagmus And Cataract
Cataract, Chorea OMIM:601372
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Dysdiadochokinesis, B... OMIM:615157
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Nephrotic Syndrome, Type 14
Mental deterioration, Hypertriglyceridemia, Ataxia, Hypoalbuminemia OMIM:617575
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Frontal upsweep of hair, Tremor, Aggressive behavior, Spasticity OMIM:300983
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Tremor, S... ORPHA:3077
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Cataract, Hypocalcemic seizures OMIM:146200
Neuroferritinopathy
Leg dystonia, Decreased circulating ferritin concentration, Blepharospasm, Bradykinesia, Resting ... ORPHA:157846
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Meningocele... ORPHA:101030
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Mental deterioration, Babinski sign, Tremor, Spasticity, Steppage gait OMIM:609260
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intent... ORPHA:284289
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Panic attack, Stereotyp... ORPHA:3095
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations, Dem... OMIM:159950
4H Leukodystrophy
Ataxia, Dysmetria, Mental deterioration, Dysdiadochokinesis, Tremor, Cataract, Progressive gait a... ORPHA:289494
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Dengue Fever
Hypoproteinemia ORPHA:99828
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Cognitive impairment OMIM:616668
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... ORPHA:240071
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia 42
Ataxia, Cognitive impairment, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spas... OMIM:616795
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Chorea, Abnormal circulating creatine kinase concentration, Difficulty walking, C... ORPHA:369840
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... OMIM:277900
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Ataxia, Progressive psychomotor deterioration, Cognitive impairment, Myocl... ORPHA:363400
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Dystonia OMIM:617557
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Cataract 11, Multiple Types
Hypertonia, Cataract, Chorea OMIM:610623
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Mental deterioration, Babinski sign, Elevated... OMIM:614298
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Hypocalcemia, Hypoproteinemia OMIM:235255
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking ORPHA:101077
Neuronal Intranuclear Inclusion Disease
Ataxia, Cognitive impairment, Rigidity, Gait disturbance, Tremor, Dementia OMIM:603472
Phenylketonuria
Fair hair, Blue irides, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Cataract, Hyper... OMIM:261600
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Babinski sign, Gait disturbance, Cataract, Lower limb spasticity, Dystonia ORPHA:101006
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Hypopigmentation of hair, Rigidity, Tremor, Spasticity, Premature graying of ... ORPHA:33445
Galactosemia
Gait imbalance, Ataxia, Action tremor, Cognitive impairment, Increased level of galactitol in pla... ORPHA:352
Johanson-Blizzard Syndrome
Abnormal hair pattern, Hypoproteinemia, Alopecia ORPHA:2315
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abn... ORPHA:98773
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Cognitive impairment, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Ab... ORPHA:352649
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... OMIM:619738
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Unsteady gait, Oculomotor apraxia OMIM:614867
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of t... OMIM:609049
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia,... ORPHA:329284
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hypoproteinemia, Nail dystrophy OMIM:615895
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Mental deteriora... ORPHA:228360
Aicardi-Goutieres Syndrome 9
Hypertonia, Lower limb hypertonia, Self-mutilation, Spastic diplegia, Hypoalbuminemia, Spasticity... OMIM:619487
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Cognitive impairment, Progressive psychomotor deterioration, Tremor, Gait atax... ORPHA:1170
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Abetalipoproteinemia
Broad-based gait, Corneal ulceration, Abnormal circulating apolipoprotein concentration, Ataxia, ... ORPHA:14
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Apathy, Limb ataxia, Cognitive impairment, Inten... OMIM:607454
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Baralle-Macken Syndrome
Hirsutism, Inability to walk, Cataract, Spasticity, Dystonia OMIM:619255
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Microcornea, Long eyelashes, Cataract ORPHA:48431
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Mental deterioration, Dysdiadochokinesis, ... ORPHA:96
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Galloway-Mowat Syndrome 1
Ataxia, Opacification of the corneal stroma, Hypoplasia of the iris, Cataract, Hypoalbuminemia, S... OMIM:251300
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Mental deterioration, Elevated circulating creatine kinase concentration, Memory impairme... ORPHA:79095
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Memory impairment, ... OMIM:137440
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Adult-Onset Distal Myopathy Due To Vcp Mutation
Anxiety, Parkinsonism, Progressive neurologic deterioration, Frequent falls, Tremor, Difficulty w... ORPHA:329478
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hypocalcemia, Hypoproteinemia ORPHA:1655
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Apathy, Cognitive impairment, Intention tremor, Ment... OMIM:312080
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Muscle-Eye-Brain Disease
Hypertonia, Hemiplegia/hemiparesis, Cognitive impairment, Elevated circulating creatine kinase co... ORPHA:588
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:313200
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Elevated circulating creatine kinase concentration, Abnormal circula... ORPHA:88618
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Dysmetria, Intention tremor, Babinski sign, Cataract, Spasticity OMIM:612674
Sneddon Syndrome
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Dementia ORPHA:820
Peroxisome Biogenesis Disorder 8B
Ataxia, Spastic paraparesis, Dysmetria, Cognitive impairment, Cataract, Spasticity OMIM:614877
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Usher Syndrome Type 3
Ataxia, Anxiety, Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... OMIM:302800
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Panic attack, Head tremor, Craniofacial dystonia, Writer'... ORPHA:420492
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Anxiety, Decreased serum iron, Decreased plasma carn... ORPHA:89842
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Autoimmune Hypoparathyroidism
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Myoclonic spasms, Hypocalcemic tetany, H... ORPHA:36913
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity OMIM:618718
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Hirsutism, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Parkinsonism, Tremor, Dementia OMIM:260540
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Abnor... ORPHA:309246
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Ataxia, Inability to walk, Astigmatism, Tremor OMIM:619556
Peroxisome Biogenesis Disorder 9B
Ataxia, Elevated levels of phytanic acid, Cataract OMIM:614879
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Elevated circulating creatine kinase concentration, Neonatal death, Hypoalbuminemia, S... OMIM:619055
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Dysmetria, Intention tremor, Tremor, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
3-Methylglutaconic Aciduria, Type Viii
Tremor, Cataract, Dystonia, Hypertonia OMIM:617248
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hypertonia, Ataxia, Inability to walk, Cataract, Spasticity, Hyperkalemia OMIM:608885
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hypoalbuminemia, Hyponatremia ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low anterior hairline, Inability to walk, Coarse hair, Long eyelashes, Synophrys, Hypo... OMIM:617303
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Perry Syndrome
Akinesia, Frontotemporal dementia, Bradykinesia, Apathy, Anxiety, Rigidity, Parkinsonism, Tremor,... OMIM:168605
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Inability to walk, Mental deterioration, Ankle clonus, Babinski sign, Abn... ORPHA:52368
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Hypomagnesemia, Oculogyric crisis, Abnormal circulating neopterin concentration, Park... ORPHA:1578
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Clumsiness, Mental deterioration, Anxiety, Gait disturbanc... ORPHA:79239
Leishmaniasis
Hypoalbuminemia ORPHA:507
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... OMIM:616212
Tay-Sachs Disease
Clumsiness, Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Incre... ORPHA:845
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Gait disturbance ORPHA:99014
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671