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Gene: Hexb MGI:96074

Gene Summary

Name:

hexosaminidase B

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased circulating iron level	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.88×10^-06
abnormal locomotor behavior	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.47×10^-05
decreased exploration in new environment	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.49×10^-05
increased circulating alkaline phosphatase level	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.42×10^-22
abnormal gait	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.02×10^-11
thrombocytosis	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.11×10^-05
increased circulating aspartate transaminase level	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.72×10^-11
tremors	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.70×10^-06
increased monocyte cell number	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.96×10^-08
decreased circulating fructosamine level	Hexb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.08×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	50% (1 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 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)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	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)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	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)
Skin	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)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

12 Images

View images

Human diseases caused by Hexb 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.

Human diseases associated with Hexb (4 diseases)
Human diseases predicted to be associated with Hexb (1323 diseases)

The table below shows human diseases associated to Hexb by orthology or direct annotation.

Disease	Matching phenotypes	Source
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Incoordination, Ataxia, Urinary incontinence, Limb joint contracture, Ab...	ORPHA:309162
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Skeletal muscle atrophy, Ataxia, Urinary incontinence...	OMIM:268800
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly	ORPHA:309155

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

Disease	Matching phenotypes	Source
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Distal lower l...	ORPHA:100984
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim...	OMIM:300911
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	Distal lower limb amyotrophy, Hand muscle weakness, Impaired pain sensation, Impaired distal vibr...	OMIM:300905
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling...	ORPHA:306692
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Hypomimic fac...	OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Hypomi...	OMIM:300423
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine...	OMIM:618418
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi...	OMIM:606777
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines...	OMIM:213600
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni...	OMIM:618824
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy	OMIM:617018
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance	OMIM:609161
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive c...	ORPHA:248111
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
Spinocerebellar Ataxia 17	Broad-based gait, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetr...	OMIM:607136
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait dist...	OMIM:615643
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity	OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia	OMIM:605909
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen...	ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Distal muscle weakness, Paralysis, Distal sensory impairment, Difficulty walking, Lethargy, Muscl...	OMIM:613710
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia	ORPHA:98934
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ...	OMIM:182980
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Status ep...	ORPHA:71277
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity	OMIM:617829
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po...	OMIM:619565
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Fiber type grouping, Distal amyotrophy, Distal sensory impairment	OMIM:614369
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Dystonia, Limb hyper...	OMIM:617384
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait	OMIM:619052
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfun...	OMIM:500001
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cogwheel ...	ORPHA:254886
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines...	OMIM:613280
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Infantile Dystonia-Parkinsonism	Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, H...	ORPHA:238455
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Urinary incontinence, Postural tremor, Rigidi...	OMIM:183090
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Chorea, Benign Familial	Chorea	OMIM:215450
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga...	OMIM:221820
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetra...	OMIM:615924
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmet...	ORPHA:98755
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Bradykinesia, Upper limb muscle weakness, Po...	ORPHA:171442
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Skeletal muscle atrophy, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia...	OMIM:616719
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, We...	ORPHA:399
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, External ophthalmoplegia, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogo...	OMIM:615768
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B...	OMIM:615157
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, Spastic ...	OMIM:300055
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Tremor, Inability to walk, ...	OMIM:617013
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Classic Galactosemia	Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur...	ORPHA:79239
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Inabilit...	ORPHA:101077
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri...	ORPHA:216873
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Dystonia,...	OMIM:618224
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp...	ORPHA:70594
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T...	OMIM:137440
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,...	ORPHA:13
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak...	OMIM:158590
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ...	OMIM:604290
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ...	ORPHA:1935
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los...	ORPHA:157941
Spinocerebellar Ataxia 10	Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata...	OMIM:603516
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Lethargy, Spasticity	OMIM:617065
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to wal...	OMIM:618877
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle...	OMIM:616668
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop...	OMIM:607317
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking...	OMIM:608634
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Parkinsonism, Motor neuron atrophy, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling ...	ORPHA:412066
Severe Canavan Disease	Poor head control, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Dec...	ORPHA:314911
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Impaired dist...	OMIM:300623
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Seizure, Ataxia	ORPHA:622
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi...	OMIM:109150
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Hand tremor, Bradykinesia,...	ORPHA:289560
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dystonia, Dysmetria, Gait ataxia, Urinary urgency, Hemiparesis, Bradykine...	OMIM:601338
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at...	ORPHA:101109
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a...	OMIM:607458
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia...	OMIM:261630
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Saccharopinuria	Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abn...	ORPHA:3124
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, I...	OMIM:600363
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Paresis of extensor muscles of the big toe, Somatic sensory dysfunc...	ORPHA:99947
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi...	ORPHA:225147
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ...	OMIM:617284
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Spinocerebellar Ataxia 12	Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Sei...	OMIM:614307
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa...	OMIM:615889
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:100999
X-Linked Charcot-Marie-Tooth Disease Type 6	Distal lower limb amyotrophy, Thenar muscle atrophy, Impaired vibration sensation in the lower li...	ORPHA:352675
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu...	OMIM:607483
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Steppage ga...	OMIM:618387
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency, Lower limb spasticity, Bradykinesia	OMIM:618878
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ...	OMIM:607641
Neuroferritinopathy	Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Progressive flexion con...	ORPHA:98808
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Urinary incontinence, Chorea, Upper-limb joint contracture, Opis...	ORPHA:300605
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop...	ORPHA:101075
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spastic Paraplegia 17, Autosomal Dominant	Lower limb spasticity, Postural tremor, Impaired distal proprioception, Thenar muscle atrophy, Th...	OMIM:270685
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Spinocerebellar Ataxia Type 13	Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Clumsiness, ...	ORPHA:98768
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration	OMIM:610951
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Skeletal muscle atrophy, Parkinsonism, Facial palsy, Impaired distal propriocepti...	OMIM:157640
Developmental And Epileptic Encephalopathy 97	Poor head control, Epileptic spasm, Tremor, Inability to walk, Seizure	OMIM:619561
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Ophthalmoplegia, Myoclonic seizure, Seizure, Myoclonus, Lethargy, Spasticity	OMIM:618225
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Brad...	OMIM:615530
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism...	OMIM:105500
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Neurogenic bladder, Lower limb spasticity, Detrusor sphincter dyssynergia, U...	ORPHA:466722
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Ur...	ORPHA:100988
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m...	OMIM:271150
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Seizure...	OMIM:603896
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr...	OMIM:617672
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia,...	OMIM:238970
Hereditary Geniospasm	Abnormal social behavior, Chin myoclonus, Intention tremor	ORPHA:53372
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Seizure, Gait disturbance	ORPHA:79283
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Primary Progressive Freezing Gait	Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbala...	ORPHA:75567
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia,...	ORPHA:98760
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Flexion contracture, Limb muscle weakness, Distal sensory impairment, Dist...	OMIM:609260
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal...	ORPHA:309854
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Lethargy, Limb hype...	OMIM:233910
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Lethargy	OMIM:250620
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hypertonia, Tetraplegia, Seizure	OMIM:274270
Isolated Atp Synthase Deficiency	Ataxia, Ophthalmoplegia, Spastic paraplegia, Tetraplegia, Myoclonic seizure, Seizure, Hypogonadis...	ORPHA:254913
Spinocerebellar Ataxia 23	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Neuronal loss in ...	OMIM:610245
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cram...	OMIM:128100
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:171695
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gait disturbance, Myoclonu...	OMIM:168601
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ...	OMIM:208920
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Decreased circulating antibody level, Gait disturbance, Aplasia/Hypoplasi...	ORPHA:2572
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se...	OMIM:617105
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal muscle weakness, Paralysis, Distal sensory impairment, Distal upper limb muscle weakness, ...	OMIM:605285
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Cholecy...	ORPHA:778
Glycine Encephalopathy 1	Lethargy, Seizure, Myoclonus	OMIM:605899
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Facial palsy, Proximal muscle weakness, Tremor, Gowers sign, Respirato...	OMIM:159950
Urocanase Deficiency	Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop...	OMIM:118300
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Lethargy, Seizure	OMIM:617900
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff...	OMIM:612319
Cln3 Disease	Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Shuffling gait, Left ventricular hypertro...	ORPHA:228346
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Gait disturbance	ORPHA:101078
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady...	ORPHA:411602
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk, Focal-onset seizure...	ORPHA:330050
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Bulbar palsy, Tremor, Decreased fertility, Fasciculations, Limb muscle weakness, Testicular atrophy	OMIM:313200
Methylmalonic Acidemia With Homocystinuria	Lethargy, Seizure, Gait disturbance	ORPHA:26
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Babinski sign, Abno...	ORPHA:97349
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Impotence, Hypogonadism, Muscle weakness	ORPHA:79230
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia, Dystonia, Short st...	OMIM:168600
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty...	ORPHA:98764
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram...	ORPHA:306682
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Distal amyotrophy, Ataxia	OMIM:619099
Pontocerebellar Hypoplasia, Type 6	Appendicular spasticity, Lower limb spasticity, Poor head control, Generalized-onset seizure, Sei...	OMIM:611523
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata...	OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Hypertonia, Seizure, Dystonia	ORPHA:26792
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy, Seizure	OMIM:613002
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea	OMIM:602390
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Emotional lability, Waddling gait, Inability to walk	OMIM:616269
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,...	ORPHA:98756
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles...	OMIM:302800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Generalized muscle weakness, Seizure	ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Lacticaciduria	OMIM:619063
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Seizure, Ataxia, Dystonia	OMIM:246900
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia, Lethargy	OMIM:312170
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liv...	ORPHA:254892
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Obesity, Limb dystonia	OMIM:620270
Cyclic Vomiting Syndrome	Lethargy, Seizure, Ataxia, Muscle weakness	OMIM:500007
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban...	ORPHA:765
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Ataxia, Muscle weakness	OMIM:618951
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Obesity, Dysm...	ORPHA:93952
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Small for gestational age, Ataxia	OMIM:278780
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo...	OMIM:619028
Atypical Rett Syndrome	Total ophthalmoplegia, Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile ...	ORPHA:3095
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:171863
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis...	OMIM:614924
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme...	ORPHA:79263
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Central Neurocytoma	Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy	ORPHA:73256
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:171612
Mitochondrial Complex I Deficiency, Nuclear Type 5	Ataxia, Ophthalmoplegia, Babinski sign, Seizure, Dystonia, Lethargy	OMIM:618226
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig...	OMIM:615491
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ...	OMIM:608106
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:100993
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Spastic/hyperactive bladde...	ORPHA:137898
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Susac Syndrome	Somatic sensory dysfunction, Upper motor neuron dysfunction, Gait ataxia, Apathy, Lethargy, Muscl...	ORPHA:838
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer...	ORPHA:254881
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ...	ORPHA:90159
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Dihydropyrimidinase Deficiency	Lethargy, Seizure, Abnormal pyramidal sign, Extrapyramidal dyskinesia	OMIM:222748
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk, Dysmetria, Ga...	OMIM:618090
Beta-Ketothiolase Deficiency	Ataxia, Leukocytosis, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia, Thrombocytosis, S...	ORPHA:134
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic parapare...	ORPHA:391417
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Lower limb muscle weakness, Babinski sign, Impaired vibration sens...	ORPHA:100989
Lethal Infantile Mitochondrial Myopathy	Lethargy, Seizure, Progressive external ophthalmoplegia	ORPHA:254857
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Upper limb mus...	ORPHA:90117
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski s...	OMIM:146500
Crigler-Najjar Syndrome Type 1	Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Poor head control, Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Leth...	OMIM:614299
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia	OMIM:304700
Riboflavin Transporter Deficiency	Bulbar palsy, Ataxia, Facial palsy, Tremor, Seizure, Hypogonadism, Myoclonus, Limb muscle weaknes...	ORPHA:97229
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Left ventricular hypertrophy, Spastic tetraparesis, Babinski sig...	ORPHA:3208
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression...	OMIM:616795
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey...	OMIM:616421
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Bipolar affective disorder, Broad-based gait, Parkinsonism...	ORPHA:3077
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea...	ORPHA:401768
Porphyria, Acute Hepatic	Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Trem...	OMIM:234200
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Citrullinemia Type I	Torticollis, Ataxia, Slurred speech, Ankle clonus, Seizure, Lethargy, Spasticity	ORPHA:247525
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Depression, Iron deficiency anemia, Hypocalcemia, Thrombocytosis	OMIM:212750
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, ...	OMIM:612016
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy	OMIM:236270
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Eati...	ORPHA:544254
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Hand muscle weakness, Impaire...	ORPHA:101085
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Impaire...	OMIM:616586
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure...	ORPHA:139485
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy...	ORPHA:33445
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Dyst...	OMIM:610217
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn...	ORPHA:3032
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-...	ORPHA:395
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance	ORPHA:99014
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia	OMIM:618637
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Adductor lo...	OMIM:210000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Myoclonus, ...	ORPHA:20
4H Leukodystrophy	Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdi...	ORPHA:289494
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma...	OMIM:272750
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, ...	ORPHA:93256
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure...	OMIM:607694
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Seizure, Abnormal social behavior	ORPHA:436151
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Spastic tetraparesis, External ophthalmoplegia, Babinski sign, Gait disturbance, Loss of ...	OMIM:615838
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Proximal muscle weakness, Fatigable weakness, Fatigable w...	ORPHA:42
Pulmonary Blastoma	Weight loss	ORPHA:64741
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myop...	ORPHA:363400
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur...	OMIM:617810
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur...	OMIM:618060
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Bronchiectasis, Increased circulating IgM level, Cellulitis, Decreased circulating IgG2 level, De...	OMIM:615513
Gaba-Transaminase Deficiency	Lethargy, Seizure	OMIM:613163
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Aspiration...	ORPHA:216866
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Urinary incont...	ORPHA:329478
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati...	OMIM:618982
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A...	ORPHA:306674
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Choreoathetosis, Seizure, Tetraparesis, Lethargy	ORPHA:27
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive	ORPHA:477673
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Patent ductus arteriosus, Cerebral at...	OMIM:614857
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Intention tremor	OMIM:212065
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Bilateral tonic-clonic seizure, Gait imbalance, Muscle weakness	OMIM:618120
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A...	OMIM:615934
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Centrally nucleated skeletal mus...	OMIM:619574
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech, Nephrolithiasis	OMIM:619827
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat...	ORPHA:2388
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Huntington Disease-Like 3	Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Chorea, Flexion contrac...	ORPHA:157946
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Impaired tandem ...	OMIM:117360
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dystonia, Paralysis	OMIM:300857
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Abnormal pyramidal sign, Ataxia	OMIM:618228
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func...	OMIM:605711
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle...	ORPHA:101076
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc...	ORPHA:803
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment	OMIM:603472
Alexander Disease Type I	Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive	ORPHA:363717
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Generalized-onset seizure, Hypergonadotropic hypogonadism, Tremor, ...	OMIM:619737
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Muscle weakness, Hand paresthesia	OMIM:162500
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, ...	ORPHA:101097
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Febrile Infection-Related Epilepsy Syndrome	Focal-onset seizure, Lethargy	ORPHA:163703
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Impaired temperature s...	ORPHA:398079
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia	OMIM:619773
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Dystonia, Lethargy	ORPHA:289916
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Spasticity, Seizure, Ataxia	ORPHA:2394
Autosomal Dominant Spastic Paraplegia Type 38	Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Spinal cor...	ORPHA:171617
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Hypogonadism, Lethargy, Decreased testicular size	OMIM:201100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis	OMIM:619470
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Incoordination, Ataxia, Urinary incontinence, Limb joint contracture, Ab...	ORPHA:309162
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Lower limb m...	ORPHA:845
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Clonus, Impaired pain sensation, Abnormal spinal cord morphology, Babinski sign, Spastic parapleg...	ORPHA:139578
Myasthenic Syndrome, Congenital, 16	External ophthalmoplegia, Fatigable weakness, Gait disturbance, Periodic paralysis	OMIM:614198
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Intellectual Developmental Disorder, X-Linked 12	Tremor, Cryptorchidism, Depression, Seizure, Hyperkinetic movements, Gait disturbance, Microphall...	OMIM:300957
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s...	ORPHA:457240
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory insufficiency due to muscle weakness, Lethargy, Muscle weakness	OMIM:613561
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore...	ORPHA:101
Insulinoma	Tremor, Generalized muscle weakness, Seizure, Paresthesia, Abnormality of pain sensation, Lethargy	ORPHA:97279
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Benign Samaritan Congenital Myopathy	Lethargy, Fasciculations	ORPHA:324581
Immunodeficiency 37	Colitis, Infectious encephalitis, Decreased circulating antibody level	OMIM:616098
Lethal Congenital Contracture Syndrome 7	Facial diplegia, Paralysis	OMIM:616286
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Lethargy, Seizure, Dystonia	ORPHA:79312
Sialidosis Type 2	Hepatomegaly, Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Flexion contracture, Nephrop...	ORPHA:87876
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffma...	OMIM:601162
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc...	OMIM:615688
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can...	ORPHA:98813
Cln5 Disease	Abnormal central motor function, Ataxia, Generalized-onset seizure, Tremor, Inability to walk, Fo...	ORPHA:228360
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Proximal muscle weakness, Spinal cord lesion, Seizure, Spastic gait, Progr...	ORPHA:320355
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Tuberculosis	Weight loss	ORPHA:3389
Hypokalemic Periodic Paralysis	Paralysis, Episodic flaccid weakness, Respiratory paralysis, Late-onset proximal muscle weakness,...	ORPHA:681
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ...	OMIM:610163
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Ataxia, Facial palsy, Foot joint contracture, Achilles tendon contracture, Aplasia/...	ORPHA:456312
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Infantile spasms, Chorea, Ophthalmoplegia, Spastic tetraplegia, Gai...	OMIM:618321
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,...	ORPHA:139396
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ...	OMIM:609454
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Bulbar palsy, Somatic sensory dysfunction, Pa...	ORPHA:99857
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomotor apraxia	OMIM:614867
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor...	OMIM:312080
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Broad-based gait, Distal muscle weakness, Limb muscle weakness, Gait ataxia, Distal sensory impai...	OMIM:614895
Trisomy X	Tremor, Seizure, Secondary amenorrhea, Depression	ORPHA:3375
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo...	ORPHA:420492
Crigler-Najjar Syndrome	Lethargy, Seizure, Ophthalmoparesis	ORPHA:205
Typhoid	Tremor, Lethargy, Hypertonia, Ataxia	ORPHA:99745
Cerebral Cavernous Malformations 3	Seizure, Paralysis	OMIM:603285
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion...	OMIM:222470
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Flexion contracture, Dysmetria, Gait ataxia, Distal sensory impair...	OMIM:616505
Oculopharyngodistal Myopathy 4	Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var...	OMIM:619790
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Abnormality of t...	ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal amyotrophy, Distal sensory impairment	OMIM:607734
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia	ORPHA:640
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Depression, Emotional lability, Thr...	ORPHA:324636
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem...	OMIM:300400
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,...	ORPHA:79254
Hemochromatosis, Type 2B	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	OMIM:613313
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In...	OMIM:308230
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Hypoglycemic seizures, Status epilepticus, Muscle weakness	ORPHA:276580
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Progressive external ophthalmoplegia, Distal muscle weakn...	ORPHA:276244
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,...	OMIM:613502
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spastic...	ORPHA:100
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Ataxia, Weight loss	ORPHA:391
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Seizure, Spasticity, Paroxysmal bursts of laughter, Muscle weakness	OMIM:618718
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality...	ORPHA:848
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysesthesia, Mye...	ORPHA:79093
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill...	OMIM:308240
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance	ORPHA:157973
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Clumsiness, Abnormal circulating creatine kinase concentration, Steppage gait, Fasciculations, Ab...	ORPHA:521411
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,...	OMIM:254900
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Macroglossia, Recurrent otiti...	OMIM:618523
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Seizure, Ataxia, Paraplegia	ORPHA:927
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Maple Syrup Urine Disease	Lethargy, Hypertonia, Ataxia, Seizure	OMIM:248600
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Glutathionuria	Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ...	OMIM:615767
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Ogden Syndrome	Torticollis, Cryptorchidism, Hypertonia, Shuffling gait, Lethargy	ORPHA:276432
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U...	ORPHA:466768
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Mitochondrial Trifunctional Protein Deficiency	Progressive distal muscle weakness, Babinski sign, Generalized muscle weakness, Seizure, Tip-toe ...	ORPHA:746
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Anemia	ORPHA:1192
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Medulloblastoma	Total ophthalmoplegia, Ataxia, Spinal cord tumor, Dysmetria, Progressive cerebellar ataxia, Letha...	ORPHA:616
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Christianson Syndrome	Decreased muscle mass, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Arthrogryposis multiplex ...	ORPHA:85278
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi...	OMIM:619220
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ...	ORPHA:99965
Spinocerebellar Ataxia Type 3	Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, ...	ORPHA:98757
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Gait ataxia, Titubation, Head tremor	ORPHA:98771
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis	ORPHA:140989
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Decreased circulating antibody level, Gait disturbance...	ORPHA:2585
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ...	ORPHA:478
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Seizure, Ataxia	OMIM:237300
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc...	ORPHA:442835
Symptomatic Form Of Hfe-Related Hemochromatosis	Hypogonadotropic hypogonadism, Apathy, Infertility, Erectile dysfunction, Lethargy, Testicular at...	ORPHA:465508
Biotinidase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Focal motor seizure, Seizur...	ORPHA:79241
N-Acetylglutamate Synthase Deficiency	Lethargy, Seizure	OMIM:237310
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, External ophthalmoplegia, Choreoathetosis, Seizure, Dystonia, Muscle weakness	OMIM:619422
Variegate Porphyria	Paralysis	OMIM:176200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Brown-Vialetto-Van Laere Syndrome 1	Bulbar palsy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Generaliz...	OMIM:211530
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Urinary incontinence, Akinesia, Rigidity, Babinski sign, Ga...	ORPHA:247234
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Impaired temperature sensation, Precocious puberty, C...	ORPHA:398069
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive	OMIM:619556
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
Multifocal Atrial Tachycardia	Cryptorchidism, Lethargy	ORPHA:3282
Idiopathic Achalasia	Weight loss	ORPHA:930
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Seizure, Muscle weakness	ORPHA:820
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria	ORPHA:1933
48,Xxyy Syndrome	Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Depression, ...	ORPHA:10
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ...	OMIM:619092
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Leth...	OMIM:143880
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Neuro...	OMIM:256600
Central Diabetes Insipidus	Lethargy, Seizure, Depression	ORPHA:178029
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ...	ORPHA:298
Holocarboxylase Synthetase Deficiency	Lethargy, Seizure, Ataxia	ORPHA:79242
Glioblastoma	Seizure, Muscle weakness, Paralysis	ORPHA:360
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Seizure	OMIM:619386
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Seizure	OMIM:610006
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D...	OMIM:614381
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomeg...	OMIM:608799
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:230800
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Seizure, Focal impaired awareness seizure, Lethargy, Limb hypertonia	OMIM:620306
Cystathioninuria	Tremor	ORPHA:212
Machado-Joseph Disease Type 1	Progressive external ophthalmoplegia, Facial-lingual fasciculations, Babinski sign, Abnormal pyra...	ORPHA:276238
Machado-Joseph Disease Type 2	Progressive external ophthalmoplegia, Facial-lingual fasciculations, Babinski sign, Abnormal pyra...	ORPHA:276241
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Increased circulating IgE ...	OMIM:618282
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, External ophthalmoplegia, Abnormal pyramidal sign, Seizure, Lethargy	OMIM:201470
Aicardi-Goutieres Syndrome 9	Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, H...	OMIM:619487
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Facial palsy, Paralysis...	ORPHA:79139
Rhabdoid Tumor	Cerebral palsy, Weight loss, Hematuria, Neoplasm of the liver, Hemiplegia	ORPHA:69077
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l...	ORPHA:277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Clumsiness, Gait ataxia, Abnormal social behavior, Progressive gait ataxia, Tip-to...	ORPHA:309256
Myoclonic-Astatic Epilepsy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Simple febrile se...	ORPHA:1942
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Clumsiness, Abnormal social behavior, Progressive spastic quadriplegia, Pr...	ORPHA:309271
Brucellosis	Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism...	ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Increased circulating IgA level,...	OMIM:618048
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Status epilepticus, Hypoglycemic seizures	ORPHA:276556
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu...	OMIM:618534
Carnitine Palmitoyl Transferase 1A Deficiency	Hemiplegia/hemiparesis, Seizure, Lethargy	ORPHA:156
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Shyness, Tremor, Cryptorchidism, Micropenis, Spasticity, Decreased...	OMIM:300978
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Mental deteriorat...	ORPHA:79095
Hypokalemic Periodic Paralysis, Type 2	Episodic flaccid weakness, Periodic paralysis	OMIM:613345
Idiopathic Intracranial Hypertension	Focal sensory seizure with olfactory features, Lethargy, Depression	ORPHA:238624
Combined Oxidative Phosphorylation Deficiency 2	Lethargy	OMIM:610498
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Tremor, Cryptorchidism, Gait ataxia, Seizure, Hypogonadism, Micropenis, Decreased te...	OMIM:300354
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia	OMIM:615486
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas...	ORPHA:702
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff...	ORPHA:529665
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Status epilepticus, Hypoglycemic seizures	ORPHA:276575
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Muscle weakness, Periodic paralysis	OMIM:170400
Encephalitis Lethargica	Parkinsonism, Tremor, Upper limb muscle weakness, Seizure, Lethargy	ORPHA:83600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti...	OMIM:619752
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr...	ORPHA:391428
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery mor...	ORPHA:284
Propionic Acidemia	Lethargy, Dystonia, Seizure, Limb hypertonia	OMIM:606054
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Scrub Typhus	Tremor, Lethargy, Seizure	ORPHA:83317
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity	OMIM:312750
Krabbe Disease	Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti...	OMIM:245200
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation	ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Joint contracture, Dystonia, Spasti...	OMIM:617664
Metachromatic Leukodystrophy, Juvenile Form	Babinski sign, Clumsiness, Abnormal social behavior, Seizure, Progressive gait ataxia, Decerebrat...	ORPHA:309263
Ddost-Cdg	Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Failure to ...	ORPHA:300536
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Lethargy, Seizure, Dystonia	OMIM:277410
11Q22.2Q22.3 Microdeletion Syndrome	Seizure, Poor head control, Abnormal social behavior	ORPHA:444002
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatospleno...	ORPHA:3260
Activated Pi3K-Delta Syndrome	Pneumonia, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increased circulating...	ORPHA:397596
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Camptodactyly of finger, Tremor, Splenomegaly, Aplasia/Hypoplasia o...	ORPHA:354
Poliomyelitis	Bulbar palsy, Paralysis, Paraparesis, Inability to walk, Upper limb muscle weakness, Hyperkinetic...	ORPHA:2912
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Sandifer Syndrome	Abnormal posturing, Torticollis, Esophagitis, Hiatus hernia	ORPHA:71272
L-2-Hydroxyglutaric Aciduria	Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis	ORPHA:79314
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig...	OMIM:243700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Seizure, Hyperton...	OMIM:617710
Porphyria, Acute Intermittent	Paralysis, Depression, Seizure, Respiratory paralysis, Paresthesia, Muscle weakness	OMIM:176000
Carnitine Deficiency, Systemic Primary	Lethargy, Muscle weakness, Proximal muscle weakness	OMIM:212140
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Ataxia, Tremor, Ragged-red muscle fibers, Nephrotic syndrom...	OMIM:607426
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Paresthesia	ORPHA:49827
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Impotence...	OMIM:105210
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Congenital diaphragmatic hernia, Decreased circulating antibody level	ORPHA:99811
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Speech apraxia, Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign,...	ORPHA:415
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Seizu...	ORPHA:397744
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy, Methylmalonic aciduria, Dysmetria	OMIM:615578
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Spleno...	ORPHA:812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Waddling gait, Tre...	OMIM:615356
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutaneous candidiasi...	OMIM:147060
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ...	ORPHA:88628
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Seizure, Opisthotonus	OMIM:210200
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Hypogonadotropic hypogonadism	ORPHA:494
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri...	OMIM:256700
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Lethargy, Seizure	ORPHA:263455
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Limb hypertonia	OMIM:617162
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Increased circulating IgE level, Scarring	ORPHA:89843
Riboflavin Deficiency	Lethargy	OMIM:615026
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Azoospermia, Seizure, Hypogonadism, I...	ORPHA:96263
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Hypoglycemic seizures	ORPHA:324575
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Fatal Familial Insomnia	Urinary retention, Myoclonus, Ataxia, Weight loss	OMIM:600072
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Cryptorchidism, Lethargy, Micropenis	OMIM:607143
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Seizure, Tongue fasciculations, Myoclonus	OMIM:614922
Citrullinemia Type Ii	Tremor, Mania, Seizure, Lethargy, Delayed menarche	ORPHA:247585
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Abnormal pyramidal si...	ORPHA:447753
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular...	ORPHA:540
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Inability to walk, Vocal c...	ORPHA:99956
Mitochondrial Complex I Deficiency, Nuclear Type 1	Poor head control, Ataxia, Hypospadias, Bilateral tonic-clonic seizure, Babinski sign, Tongue fas...	OMIM:252010
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Proximal 16P11.2 Microduplication Syndrome	Tremor, Seizure, Micropenis, Bipolar affective disorder	ORPHA:370079
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly...	ORPHA:94080
Poems Syndrome	Thrombocytosis, Polycythemia	ORPHA:2905
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy	ORPHA:28
Isovaleric Acidemia	Lethargy, Seizure	OMIM:243500
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Inability to walk, Hyp...	OMIM:616801
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration...	OMIM:274150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula...	OMIM:241600
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Increased circulating IgE level	OMIM:616069
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Evans Syndrome	Lethargy, Muscle weakness	ORPHA:1959
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficulty walking, Hy...	ORPHA:199343
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Seizure	OMIM:600649
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:42642
Methylcobalamin Deficiency Type Cble	Lethargy, Lower limb hypertonia, Seizure	ORPHA:2169
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma...	OMIM:209920
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal socia...	ORPHA:1020
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Hypochromic anemia, Thrombocytosis, Spasticity	OMIM:618213
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ...	OMIM:208900
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob...	OMIM:300755
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Weight loss	ORPHA:545
Zika Virus Disease	Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Conjunctivitis, I...	ORPHA:448237
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a...	ORPHA:478029
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Ankle weakness, Respiratory ...	ORPHA:600
Pseudohypoaldosteronism Type 2	Muscle weakness, Periodic paralysis	ORPHA:757
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Generalized-onset seizure, Paralysis, Focal-onset seizure, Depression, Status epilepticus	ORPHA:83601
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Flexion contracture,...	ORPHA:144
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Superficial Siderosis	Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of the spinal cord, Abno...	ORPHA:247245
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy, Bilateral tonic-clonic seizure, Muscle weakness	OMIM:201475
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Periodic paralysis, Weight loss	OMIM:188580
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Limb myoclonus, Febrile seiz...	ORPHA:64280
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Seizure	OMIM:618232
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, Primary amenorrhea, D...	ORPHA:502423
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Eosinophilic Fasciitis	Myositis, Muscular edema, Paresthesia, Weight loss	ORPHA:3165
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Transcobalamin Ii Deficiency	Lethargy, Ataxia, Muscle weakness	OMIM:275350
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Babinski sign, Flexion contracture, Facial diplegia, Dystonia, ...	OMIM:618186
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
49,Xxxxy Syndrome	Hypoplasia of penis, Small scrotum, Shyness, Tremor, Cryptorchidism, Azoospermia, Seizure, Hypogo...	ORPHA:96264
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia, Arm dystonia, Neurodegeneration	ORPHA:79244
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy	OMIM:619064
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal spinal cord morphology, Diap...	ORPHA:83597
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Vici Syndrome	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Decreased circu...	OMIM:242840
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Myopathy, Chole...	OMIM:615512
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Flexion contracture,...	ORPHA:440437
Xeroderma Pigmentosum, Complementation Group F	Tremor, Flexion contracture, Ataxia, Decreased body weight	OMIM:278760
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Cerebral palsy, Seizure, Opisthotonus	OMIM:210210
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Distal muscle weakness, Bilateral tonic-clonic seizure...	OMIM:617988
Infantile Liver Failure Syndrome 2	Lethargy, Seizure	OMIM:616483
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Generalized-onset seizure, Facial pa...	ORPHA:297
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Seizure, Muscle weakness	OMIM:212138
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Difficulty wal...	OMIM:164310
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre...	ORPHA:276
Ichthyosis, Congenital, Autosomal Recessive 2	External genital hypoplasia, Paralysis	OMIM:242100
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv...	ORPHA:449400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Generalized-onset seizure, Hypospadias, Cryptorchidism, Athetosis, Seizure, Lethargy, Clitoral hy...	OMIM:614866
Early Infantile Epileptic Encephalopathy	Poor head control, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic...	ORPHA:1934
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Congenital Disorder Of Glycosylation, Type Ij	Infantile spasms, Tremor, Cryptorchidism, Seizure, Hypertonia	OMIM:608093
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Brain a...	OMIM:620327
Trichinellosis	Facial palsy, Ophthalmoplegia, Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy, Muscle w...	ORPHA:863
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Meningococcal Meningitis	Lethargy, Seizure, Paresthesia	ORPHA:33475
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Lethargy, Depression, Clumsiness	ORPHA:90674
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, Increased circul...	OMIM:617099
Angelman Syndrome	Broad-based gait, Ataxia, Precocious puberty in females, Infantile spasms, Tremor, Inability to w...	ORPHA:72
Holocarboxylase Synthetase Deficiency	Lethargy, Hypertonia, Seizure	OMIM:253270
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Lethargy, Seizure, Ataxia	OMIM:311250
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Limb dystonia	OMIM:604377
Schnitzler Syndrome	Arthritis, Skin rash, Increased circulating IgM level	ORPHA:37748
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Neurodegeneration, Brain atrophy	OMIM:214150
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Ophthalmoparesis, Episodic flaccid weakness, Hyp...	ORPHA:682
Isolated Complex I Deficiency	Lethargy, Poor head control, Ataxia, Muscle weakness	ORPHA:2609
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb...	ORPHA:646
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Seizure	ORPHA:2089
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo...	OMIM:616100
Biotinidase Deficiency	Lethargy, Seizure, Ataxia	OMIM:253260
Hyperkalemic Periodic Paralysis	Episodic flaccid weakness, Periodic hyperkalemic paralysis	OMIM:170500
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Seizure	OMIM:255120
Lamb-Shaffer Syndrome	Seizure, Abnormal social behavior, Ataxia, Upper motor neuron dysfunction	ORPHA:530983
Adrenomyeloneuropathy	Dysesthesia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Progress...	ORPHA:139399
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Flexion contracture, Hyperammonemia, Infectious encephalitis, Cerebral c...	ORPHA:1194
Wilson Disease	Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hepa...	OMIM:277900
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis, Muscle weakness	OMIM:620161
Metachromatic Leukodystrophy	Incoordination, Ataxia, Urinary incontinence, Dystonia, Tremor, Abnormal gallbladder morphology, ...	ORPHA:512
Methylmalonic Aciduria, Cbla Type	Tremor, Lethargy, Seizure	OMIM:251100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,...	OMIM:307200
Nipah Virus Disease	Tremor, Infectious encephalitis	ORPHA:99825
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Seizure	OMIM:201450
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, 3-Methylglutaconic aciduria, ...	OMIM:616271
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss	ORPHA:26790
Citrullinemia, Classic	Lethargy, Seizure, Ataxia	OMIM:215700
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Failure to thrive, Ketonuria, Ataxia, Weight loss, Renal tubular dysfunction, Lower-limb...	ORPHA:99885
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro...	OMIM:214500
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Renal Hypoplasia, Bilateral	Cryptorchidism, Lethargy	ORPHA:97362
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellula...	ORPHA:549
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Somatic sensory dysfunction, Jaundice, Weight loss, Lower ...	ORPHA:370348
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu...	ORPHA:371364
Attrv30M Amyloidosis	Nephropathy, Abnormal renal physiology, Weight loss	ORPHA:85447
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Cerebellar edema, Infectious encephalitis, Global...	ORPHA:363558
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Incr...	OMIM:606367
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Seizure, Muscle weakness	ORPHA:159
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Majeed Syndrome	Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Splenomegaly, Flexion contracture, Weight...	ORPHA:77297
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Autoinflammation With Arthritis And Dyskeratosis	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Thyroidit...	OMIM:617388
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri...	ORPHA:2137
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh...	OMIM:256500
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss	ORPHA:83469
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Amoebiasis Due To Free-Living Amoebae	Ataxia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Seizure, Oculomotor nerve pal...	ORPHA:68
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Limb muscle weakness, Paralysis	OMIM:612300
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis, Muscle weakness	OMIM:615490
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Macroglossia, Decreased ci...	OMIM:242860
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Weight loss	ORPHA:33276
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Wolfram Syndrome 1	Tremor, Seizure, Testicular atrophy, Ataxia	OMIM:222300
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ...	ORPHA:1163
Tetanus	Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, S...	ORPHA:3299
Infantile Krabbe Disease	Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Shoulder girdle mu...	ORPHA:206436
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski...	ORPHA:443811
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Abnormal skeletal muscle morphology, Weight loss	ORPHA:142
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Failure to thrive, Weight loss	ORPHA:1842
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration	OMIM:616239
Pseudo-Torch Syndrome 2	Lethargy, Seizure	OMIM:617397
Nephroblastoma	Hematuria, Neoplasm of the liver, Weight loss	ORPHA:654
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Myoclonic seizure, Cervical myelopathy, Seizur...	OMIM:617186
Late-Onset Isolated Acth Deficiency	Lethargy, Premature ovarian insufficiency, Muscle weakness, Seizure	ORPHA:199299
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Sei...	ORPHA:3385
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Lethargy, Seizure, Abnormality of extrapyramidal motor function	OMIM:277400
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Kimura Disease	Increased circulating IgE level	ORPHA:482
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:276621
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Mucopolysaccharidosis-Plus Syndrome	Inability to walk, Patent ductus arteriosus, Recurrent pneumonia, Flexion contracture, Increased ...	OMIM:617303
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Whipple Disease	Hepatomegaly, Myositis, Ataxia, Cachexia, Splenomegaly, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Alexander Disease	Ataxia, Clonus, Facial palsy, Tremor, Precocious puberty, Chorea, Abnormal pyramidal sign, Tetrap...	ORPHA:58
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Increased circulating IgG level, Lymphocytic interstitial pneumonia	OMIM:618495
Sézary Syndrome	Splenomegaly, Hepatomegaly, Tremor, Skeletal muscle atrophy	ORPHA:3162
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Splenomegaly	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Ata...	OMIM:267700
Moynahan Syndrome	Cachexia	ORPHA:2574
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Gait disturbance, Nephropathy	ORPHA:2774
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Infantile spasms, Atrophy of the spinal cord, Poor fine motor coordination, Seizure, Leth...	ORPHA:79282
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Wars2-Related Combined Oxidative Phosphorylation Defect	Poor head control, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis...	ORPHA:572798
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Hypertriglyceridemia, Skin rash, Ataxia, Reduced natural killer ce...	OMIM:603553
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a...	OMIM:616878
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Avian Influenza	Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:454836
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy	OMIM:611590
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Inhalational Botulism	Muscle weakness, Paralysis	ORPHA:254504
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Skeletal muscle atrophy, Ataxia, Urinary incontinence...	OMIM:268800
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St...	ORPHA:101330
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Ectopic kidney, Tremor, Abnormality of the spleen, Renal hypoplasia, Hor...	ORPHA:94063
Argininosuccinic Aciduria	Lethargy, Seizure, Ataxia	OMIM:207900
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti...	ORPHA:25
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Ataxia, Allergic rhinitis, Eczema, Increased circulatin...	OMIM:615816
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbladder, Hep...	ORPHA:171
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Seizure	OMIM:229700
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Hyperlysinemia	Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spa...	ORPHA:2203
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Tremor, Paralysis, Abnormal muscle fiber morphology, Rhabdomyolysis,...	ORPHA:79102
Boutonneuse Fever	Skin rash, Increased circulating IgG level, Maculopapular exanthema, Increased circulating IgM level	ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Generalized muscle weakness	OMIM:609015
Polymyositis	Hepatomegaly, Abnormal muscle fiber morphology, Gait disturbance, Weight loss	ORPHA:732
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Nocturia, Hepatosplenomegaly, Weight loss, Tubulo...	ORPHA:85450
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Myelopathy, Babinski sign, Vocal cord paralysis, Gait a...	ORPHA:268882
Tsh-Secreting Pituitary Adenoma	Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ...	ORPHA:91347
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap...	ORPHA:447788
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Skele...	OMIM:256040
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Peeling Skin Syndrome 1	Increased circulating IgE level, Erythroderma	OMIM:270300
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Renpenning Syndrome	Skeletal muscle atrophy, Hypospadias, Cachexia	ORPHA:3242
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy, Incoordination	OMIM:277380
Gitelman Syndrome	Ataxia, Paralysis, Generalized muscle weakness, Seizure, Paresthesia, Muscle weakness	OMIM:263800
Cholera	Lethargy, Seizure, Muscle weakness	ORPHA:173
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Pineoblastoma	Lethargy, Seizure, Paralysis	ORPHA:251909
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Glycerol Kinase Deficiency	Cryptorchidism, Seizure, Lethargy	OMIM:307030
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Histiocytoid Cardiomyopathy	Hemiplegia, Lethargy, Seizure, Polycystic ovaries	ORPHA:137675
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Camptodactyly of finger, Cachexia, Tremor, Obesity	ORPHA:85293
Netherton Syndrome	Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro...	ORPHA:634
Wolman Disease	Splenomegaly, Hepatomegaly, Hepatic failure, Cachexia	ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lethargy, Seizure	OMIM:608836
Spinal Arteriovenous Metameric Syndrome	Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Flexion contracture of toe, Camptodactyly of finger	ORPHA:3409
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Lower limb spasticity, Proteinu...	ORPHA:90321
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Abnormality of the pancreas, Liver abscess, Weight loss	ORPHA:54251
Serotonin Syndrome	Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Hepatic failure, Acute kidney in...	ORPHA:43116
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:3226
Giant Cell Arteritis	Renal insufficiency, Ataxia, Weight loss, Hematuria, Paresthesia, Hepatic failure	ORPHA:397
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Seizure, Periodic...	ORPHA:37553
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy	OMIM:251000
Paramyotonia Congenita Of Von Eulenburg	Cold paresis, Periodic hypokalemic paresis	ORPHA:684
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Spinal hemangioblastoma, Epididymal cyst	OMIM:193300
Neurocutaneous Melanocytosis	Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Infectious encephalitis, Dandy-Walker ...	ORPHA:2481
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the ureter, Cachexia	ORPHA:1133
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level	ORPHA:90368
Mercury Poisoning	Tremor, Hypokalemia, Confusion, Dystonia	ORPHA:330021
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Clonus, Tremor, Type 1 fibers relatively smaller than type 2 fibers	OMIM:619424
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Hypospadias, Tremor, Cryptorchidism, Seizure, Intention tremor	OMIM:614052
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja...	ORPHA:69665
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Cellulitis, Chronic otitis media	ORPHA:2314
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weight loss, Distal ...	OMIM:603041
Dengue Fever	Lethargy	ORPHA:99828
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int...	ORPHA:100085
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti...	ORPHA:139402
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:29072
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
X-Linked Agammaglobulinemia	Failure to thrive, Hepatitis, Weight loss	ORPHA:47
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu...	OMIM:616005
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle weakness, Tre...	ORPHA:79276
Hydranencephaly	Lethargy, Seizure, Spastic diplegia, Opisthotonus	ORPHA:2177
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ...	ORPHA:3261
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Cirrhosis, Glycosuria, Spasticity, ...	OMIM:616539
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Myositis, Proteinuria, Hemiplegia/hemiparesis, Weight loss, Hematuria, Tubul...	ORPHA:183
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Dystonia, Spasticity	ORPHA:500144
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Anemia, Abnormality of extrapyramidal motor function, Dy...	OMIM:612199
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Seizure	ORPHA:79284
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,...	OMIM:610505
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:2930
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Glossopharyngeal Neuralgia	Dysesthesia, Vocal cord paralysis, Weight loss	ORPHA:221098
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Atopic dermatitis, Elevated circulating C-reactive protein conce...	ORPHA:2902
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy, Hypoglycemic seizures	ORPHA:71212
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Tremor, Abnormal pyramidal...	ORPHA:3008
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp...	ORPHA:2968
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Failure to thrive in infancy, Weight loss	ORPHA:171876
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Poor head control, Ataxia, Bilateral tonic-clonic seizure, Inability to wa...	OMIM:617799
Alobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy...	ORPHA:220386
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Hepatitis, Tetraplegia, ...	OMIM:615846
Aggressive Systemic Mastocytosis	Portal hypertension, Hypersplenism, Weight loss, Hepatosplenomegaly, Decreased liver function	ORPHA:98850
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Patent ductus arteriosus, Flexion contracture, Increased circulating IgM level...	ORPHA:505248
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Spasticity	OMIM:618476
Alternating Hemiplegia Of Childhood	Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Hartnup Disease	Skin rash, Infectious encephalitis, Ataxia	ORPHA:2116
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hemiparesis, Lethargy	OMIM:620233
Cysticercosis	Calcification of muscles, Ataxia, Iridocyclitis, Abnormal skeletal muscle morphology, Increased c...	ORPHA:1560
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard...	ORPHA:781
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Listeriosis	Pericarditis, Osteomyelitis, Ataxia, Pneumonia, Pustule, Myocarditis, Peritonitis, Tremor, Rhabdo...	ORPHA:533
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Hypertonia, Congenital co...	ORPHA:191
Erdheim-Chester Disease	Renal insufficiency, Ataxia, Dysuria, Retroperitoneal fibrosis, Weight loss, Hydronephrosis	ORPHA:35687
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:33577
Doors Syndrome	Thrombocytosis, Myoclonus	ORPHA:79500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic se...	ORPHA:2072
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Neoplasm of the liver, Urinary retention, Weight loss	ORPHA:2126
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Hypoalbuminemia, Infectious encephalitis	ORPHA:292
Secondary Short Bowel Syndrome	Failure to thrive, Cholestasis, Weight loss	ORPHA:95427
Necrotizing Enterocolitis	Lethargy	ORPHA:391673
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ...	ORPHA:314647
Fg Syndrome Type 1	Broad-based gait, Hypospadias, Cryptorchidism, Seizure, Abnormal social behavior	ORPHA:93932
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Renal...	ORPHA:275761
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Recurrent pneumonia, Increased circulating IgE level, Elbow flexion contractur...	ORPHA:508533
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Neurodegeneration	OMIM:615919
Exercise-Induced Malignant Hyperthermia	Lethargy, Seizure, Ataxia, Muscle weakness	ORPHA:466650
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ...	OMIM:137920
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Cystic renal dysplasia, Horseshoe kidney	OMIM:608022
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive	ORPHA:35710
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra...	OMIM:203700
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Enuresis nocturna, Gait disturbance, Poor hand-eye coordination	ORPHA:420741
Takayasu Arteritis	Weight loss	ORPHA:3287
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Abnormality of t...	ORPHA:85443
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy	ORPHA:26793
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Systemic Capillary Leak Syndrome	Pancreatitis, Renal insufficiency, Oliguria, Weight loss	ORPHA:188
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Felty Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:47612
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis...	ORPHA:2552
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Splenomegal...	ORPHA:1328
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Lymphoid Interstitial Pneumonia	Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss	ORPHA:79128
Behçet Disease	Renal insufficiency, Myositis, Ataxia, Splenomegaly, Abnormal pyramidal sign, Weight loss, Hemipa...	ORPHA:117
Glycine Encephalopathy	Generalized myoclonic seizure, Lethargy, Seizure	ORPHA:407
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Weight loss	ORPHA:100080
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hepatosplenomegaly	ORPHA:86884
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss	ORPHA:729
Yao Syndrome	Nephrolithiasis, Weight loss	OMIM:617321
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media	OMIM:602450
Methylmalonic Aciduria, Cblb Type	Lethargy	OMIM:251110
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Extrapyramidal muscular rigidity, Dystonia, Multiple joi...	ORPHA:51
American Trypanosomiasis	Skin rash, Myocarditis, Infectious encephalitis	ORPHA:3386
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Rift Valley Fever	Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ...	ORPHA:319251
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Von Hippel-Lindau Disease	Papillary cystadenoma of the epididymis, Upper limb muscle weakness, Distal lower limb muscle wea...	ORPHA:892
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Hypogonadotropic hypogonadism	ORPHA:226307
Osteosarcoma	Weight loss	ORPHA:668
Hereditary Fructose Intolerance	Lethargy, Seizure	ORPHA:469
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I...	OMIM:260920
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Asplenia, Horseshoe kidney, Multiple renal cysts, A...	ORPHA:99776
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Increased LD...	ORPHA:330015
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Poor coordination, Fai...	OMIM:610965
Marburg Hemorrhagic Fever	Orchitis, Dysesthesia, Atypical absence status epilepticus, Seizure, Lethargy	ORPHA:99826
Cirrhosis, Familial	Lethargy	OMIM:215600
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Hepatitis, Gastrointestinal infla...	ORPHA:186
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Ataxia, Cachexia	ORPHA:220295
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Chronic Beryllium Disease	Weight loss	ORPHA:133
Igg4-Related Pachymeningitis	Sinusitis, Lower limb muscle weakness, Increased circulating IgG4 level, Elevated circulating C-r...	ORPHA:449427
Refractory Celiac Disease	Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss	ORPHA:398063
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Cap Polyposis	Weight loss	ORPHA:160148
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Atypical scarri...	ORPHA:228123
Bullous Pemphigoid	Weight loss	ORPHA:703
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Weight loss	ORPHA:100082
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Incontinentia Pigmenti	Skin rash, Abnormal dental enamel morphology, Camptodactyly of finger, Keratitis, Uveitis, Gait d...	ORPHA:464
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Weight loss	ORPHA:97287
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ...	ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Micropenis	OMIM:613673
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Familial Glucocorticoid Deficiency	Renal salt wasting, Tetraplegia, Weight loss, Hypernatriuria, Failure to thrive	ORPHA:361
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont...	ORPHA:2020
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss	ORPHA:75566
Floating-Harbor Syndrome	Speech apraxia, Broad-based gait, Hypospadias, Precocious puberty, Cryptorchidism, Seizure, Epidi...	ORPHA:2044
Wiskott-Aldrich Syndrome	Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Recurrent pneumoni...	OMIM:301000
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Familial Hypoaldosteronism	Lethargy	ORPHA:427
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Generalized-onset seizure, Hypospadias, Testicular neoplasm, Spina bifida, Precoc...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Generalized-onset seizure, Hypospadias, Testicular neoplasm, Spina bifida, Precoc...	ORPHA:363958
Polyarteritis Nodosa	Weight loss	ORPHA:767
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Malignant Atrophic Papulosis	Pain insensitivity, Peritonitis, Weight loss	ORPHA:679
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Obesity	ORPHA:813
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Abnormality of ...	ORPHA:800
Tetrasomy 12P	Cachexia	ORPHA:884
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Thrombocytopenia 1	Increased circulating IgE level, Eczema, Increased circulating IgA level	OMIM:313900
Andersen Cardiodysrhythmic Periodic Paralysis	Depression, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Increased circula...	ORPHA:449432
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Weight loss	ORPHA:67
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Lassa Fever	Increased circulating IgM level, Conjunctivitis	ORPHA:99824
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, De...	ORPHA:29073
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, External genital hypoplasia, Seizure, Impaired social interactions...	ORPHA:177907
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Mend Syndrome	Cryptorchidism, Abnormal social behavior, Seizure, Limb hypertonia	ORPHA:401973
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H...	ORPHA:73263
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Splenomegaly, Inability to walk, Knee flexion contracture, Weig...	ORPHA:576
Thymoma	Myositis, Glomerulonephritis, Weight loss	ORPHA:99867
Primary Sjögren Syndrome	Somatic sensory dysfunction, Abnormal spinal cord morphology, Chorea, Depression, Seizure, Vagina...	ORPHA:289390
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Posterior Urethral Valve	Lethargy	ORPHA:93110
Multiple Endocrine Neoplasia Type 1	Atypical absence status epilepticus, Depression, Impotence, Lethargy, Decreased male libido, Amen...	ORPHA:652
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss	ORPHA:514
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97278
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc...	ORPHA:31204
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss	ORPHA:90362
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hypertonia, Dys...	OMIM:617248
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein...	ORPHA:449563
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Focal motor seizure, Seizure, Hypertonia, Febrile seizure (within the age rang...	ORPHA:1675
Pemphigus Vulgaris	Weight loss	ORPHA:704
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Macroglossia, Flexion contracture, Infectious encephalitis, Cerebral cortical atrophy	ORPHA:847
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Weight loss	ORPHA:100075
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Immunodeficiency 31C	Splenomegaly, Hepatomegaly, Skeletal muscle atrophy, Weight loss	OMIM:614162
Castleman Disease	Renal insufficiency, Jaundice, Weight loss, Hematuria, Ureteral obstruction	ORPHA:160
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97283
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Hepatic failure, Hydronephr...	ORPHA:100078
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight...	ORPHA:1501
Distal Renal Tubular Acidosis	Respiratory insufficiency due to muscle weakness, Muscle weakness, Paralysis	ORPHA:18
Ménétrier Disease	Weight loss	ORPHA:2494
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit...	ORPHA:391487
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Spastic tetrapleg...	OMIM:619475
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:98849
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Short Syndrome	Weight loss	ORPHA:3163
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi...	ORPHA:79078
Acute Promyelocytic Leukemia	Hematuria, Weight loss	ORPHA:520
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly	ORPHA:309155
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Pancreatoblastoma	Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97282
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein co...	ORPHA:91500
Pearson Marrow-Pancreas Syndrome	Lethargy	OMIM:557000
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97261
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Weight loss	ORPHA:50918
Mucopolysaccharidosis, Type Ii	Neurodegeneration	OMIM:309900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:143
Sarcoidosis	Hepatomegaly, Renal insufficiency, Facial palsy, Portal hypertension, Nephrolithiasis, Hypercalci...	ORPHA:797
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele	OMIM:136140
Pneumocystosis	Weight loss	ORPHA:723
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy	OMIM:617156
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Pyomyositis	Myositis, Renal insufficiency, Weight loss	ORPHA:764
Liver Disease, Severe Congenital	Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H...	OMIM:619991
Hurler Syndrome	Neurodegeneration	OMIM:607014
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Thyroiditis, Sclerosing cholangitis, Hypocalcemia, Hashimoto th...	ORPHA:64744
Gitelman Syndrome	Focal-onset seizure, Paresthesia, Muscle weakness, Paralysis	ORPHA:358
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hypertonia, Hydronephrosis	ORPHA:3380
Granulomatosis With Polyangiitis	Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Weight loss, Hematuria, Hemipl...	ORPHA:900
Fructose Intolerance, Hereditary	Lethargy, Seizure	OMIM:229600
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97280
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis...	ORPHA:324625
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Juvenile Dermatomyositis	Calcinosis, Myositis, Weight loss	ORPHA:93672
Tetrasomy 9P	Cryptorchidism, Abnormal spinal cord morphology, Oligozoospermia, Seizure, Inappropriate behavior...	ORPHA:3310
Lysinuric Protein Intolerance	Lethargy	ORPHA:470
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Flexion contracture, Hepatosplenomegaly	ORPHA:85408
Rat-Bite Fever	Pancreatitis, Tendonitis, Weight loss	ORPHA:31205
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Increased...	ORPHA:373
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Involuntary movements, Ataxia, Tremor, Crypto...	ORPHA:904
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:109
Acute Adrenal Insufficiency	Renal insufficiency, Decreased urinary potassium, Renal salt wasting, Weight loss, Failure to thrive	ORPHA:95409
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Elevated circulating creatine kinase concentration, Erythema nodosum, Myocard...	ORPHA:99827
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:913
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy	OMIM:218700
Mosaic Trisomy 20	Cryptorchidism, Abnormal spinal cord morphology	ORPHA:1724
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Abnormal preputium morphology, Weight loss, Abnorm...	ORPHA:84
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Weight loss, Hepatomegaly	ORPHA:60025
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Exocrine pancreatic insufficiency	ORPHA:309031
Eisenmenger Syndrome	Lethargy, Muscle weakness	ORPHA:97214
Tuberous Sclerosis Complex	Epileptic spasm, Infantile spasms, Focal-onset seizure, Depression, Seizure, Status epilepticus, ...	ORPHA:805
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Hermansky-Pudlak Syndrome	Renal insufficiency, Weight loss	ORPHA:79430
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Proteinuria, Ataxia, Abnormality of c...	ORPHA:79318
Yellow Fever	Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul...	ORPHA:99829
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Pollakisuria, Cachexia, Skeletal muscle atrophy	ORPHA:647
Nijmegen Breakage Syndrome	Neurodegeneration	OMIM:251260
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Hepatomegaly, Hypercalciuria, Weight loss	OMIM:181000
Addison Disease	Decreased urinary potassium, Failure to thrive, Weight loss, Renal salt wasting	ORPHA:85138
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Viss Syndrome	Chronic gastritis, Inguinal hernia, Eczema, Patent ductus arteriosus, Increased circulating IgE l...	OMIM:619472
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Phimosis, Urinary bladder inflammation, Flexion contracture, Weigh...	ORPHA:99921
Dermatomyositis	Inflammatory myopathy, Weight loss	ORPHA:221
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Macroglossia, Slender build	ORPHA:828
Seckel Syndrome	Cachexia	ORPHA:808
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperkalemia, Hyperlipidemia, Infectious encephalitis	ORPHA:293987
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Long penis, Elevated urinary epinephrine level, Weight loss, Hypernatriuria, ...	ORPHA:90794
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Increased body we...	ORPHA:99889
Reactive Arthritis	Weight loss	ORPHA:29207
Malt Lymphoma	Weight loss	ORPHA:52417
Marfan Syndrome	Skeletal muscle atrophy, Slender build, Cachexia	ORPHA:558
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Hepatitis, Weight loss	OMIM:619381
Proteus Syndrome	Decreased muscle mass, Cachexia, Splenomegaly, Long penis, Renal cyst, Myofibrillar myopathy	ORPHA:744
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat...	OMIM:233450
Tropical Endomyocardial Fibrosis	Splenomegaly, Hepatomegaly, Myocardial calcification, Cachexia	ORPHA:75565
Norrie Disease	Hypertonia, Failure to thrive, Clonus, Cachexia	ORPHA:649
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369
Primrose Syndrome	Bilateral cryptorchidism, Cryptorchidism, Ataxia, Neurodegeneration	OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hexb

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hexb.

No publications found that use IMPC mice or data for Hexb.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hexb^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Hexb^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hexb^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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