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Gene: Klhdc2 MGI:1916804

Gene Summary

Name:

kelch domain containing 2

Synonyms:

HCLP-1, D12Ertd522e, 2310022K15Rik

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance	Klhdc2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating creatinine level	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.02×10^-11
decreased locomotor activity	Klhdc2^{tm1a(EUCOMM)Hmgu}	HET	Early adult	6.78×10^-06
corneal opacity	Klhdc2^{tm1a(EUCOMM)Hmgu}	HET	Early adult	5.90×10^-05
abnormal skin morphology	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
abnormal snout morphology	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.84×10^-05
tremors	Klhdc2^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.66×10^-05
increased neutrophil cell number	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.38×10^-20
abnormal head morphology	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.29×10^-05
increased total body fat amount	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.81×10^-06
decreased lymphocyte cell number	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.24×10^-16

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	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	50% (1 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	100% (2 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	100% (2 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

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

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

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

21 Images

View images

Echo

M-Mode Images

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Klhdc2 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 Klhdc2 (0 diseases)
Human diseases predicted to be associated with Klhdc2 (747 diseases)

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

The table below shows human diseases predicted to be associated to Klhdc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Ataxia, Upper motor neuron dysfunction, Corneal dystrophy, Progressive cerebella...	ORPHA:3177
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Dystonia 22, Adult-Onset	Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst...	OMIM:620456
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia	OMIM:271310
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A...	OMIM:614561
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Spastic Paraparesis And Deafness	Cataract, Spastic paraparesis, Tremor	OMIM:312910
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Spastic ataxia, Corneal dystrophy, Developmental cataract	OMIM:271320
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park...	OMIM:260300
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor	ORPHA:94122
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Astigmatism, Retrocollis, Tremor, Cranio...	OMIM:617284
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s...	ORPHA:101110
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp	OMIM:614860
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Optic Atrophy 3, Autosomal Dominant	Cataract, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai...	ORPHA:98762
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Morquio Syndrome C	Corneal opacity	OMIM:252300
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst...	OMIM:128230
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia	OMIM:128235
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Spinocerebellar Ataxia Type 37	Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Spinocerebellar Ataxia 38	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D...	ORPHA:423275
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int...	ORPHA:314978
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Parkinson Disease 19A, Juvenile-Onset	Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso...	OMIM:615528
Galactosialidosis	Corneal opacity	ORPHA:351
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Spinocerebellar Ataxia, Autosomal Recessive 22	Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,...	OMIM:616948
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ...	ORPHA:521406
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Tremor, Fasciculations	OMIM:615048
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity	OMIM:613643
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid...	OMIM:600116
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Developmental cataract, Ataxia	ORPHA:1368
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor	OMIM:302500
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra...	OMIM:213600
Migraine, Familial Hemiplegic, 1	Hemiplegia, Hemiparesis, Tremor, Ataxia	OMIM:141500
Xeroderma Pigmentosum, Complementation Group G	Cataract, Spasticity, Tremor, Ataxia	OMIM:278780
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower...	ORPHA:251282
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ...	OMIM:616710
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,...	OMIM:300423
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to...	ORPHA:391411
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ...	OMIM:612067
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Parkinson Disease 21	Bradykinesia, Parkinsonism, Tremor, Rigidity	OMIM:616361
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor	OMIM:619561
Gómez-López-Hernández Syndrome	Ataxia, Corneal opacity	ORPHA:1532
Spinocerebellar Ataxia Type 14	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism, Resting tremor, Rigidity	OMIM:614251
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Winchester Syndrome	Corneal opacity	OMIM:277950
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of...	ORPHA:99750
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto...	OMIM:617145
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Mucolipidosis Iv	Babinski sign, Corneal opacity, Dystonia, Opacification of the corneal stroma, Spastic tetraplegia	OMIM:252650
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia	ORPHA:306669
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Gait disturbance, Keratoglobus, Sclerocornea, Fla...	OMIM:614170
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Tremor	ORPHA:66633
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign	OMIM:610245
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Lichtenstein-Knorr Syndrome	Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:616291
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia	OMIM:617056
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance	ORPHA:276435
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Progressive gait a...	ORPHA:284324
Spinocerebellar Ataxia 50	Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia	OMIM:620158
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia	OMIM:619028
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait	OMIM:213200
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance	OMIM:618090
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Neurodegeneration With Brain Iron Accumulation 7	Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Tremor, Ataxia	ORPHA:101075
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia	OMIM:606438
Harel-Yoon Syndrome	Spasticity, Inability to walk, Corneal opacity, Developmental cataract, Ataxia, Dystonia	OMIM:617183
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc...	ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen	OMIM:617872
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduce...	OMIM:301110
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T...	ORPHA:420492
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia	OMIM:618587
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,...	OMIM:618877
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Posterior subcapsular cataract, Postural tremor, Ataxia	OMIM:300619
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia	OMIM:618387
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P...	OMIM:606693
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Sialidosis Type 2	Ataxia, Tremor, Corneal opacity	ORPHA:87876
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	ORPHA:329284
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Tremor, Ataxia	ORPHA:101078
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea...	ORPHA:97355
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv...	ORPHA:98773
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi...	OMIM:610185
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ...	ORPHA:401768
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c...	OMIM:617013
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,...	ORPHA:79263
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki...	OMIM:614831
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculation...	OMIM:615157
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia	ORPHA:70594
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait	OMIM:616795
Lopes-Maciel-Rodan Syndrome	Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unsteady gait, B...	OMIM:617435
Tyrosinemia Type 2	Ataxia, Tremor, Corneal opacity	ORPHA:28378
Sialidosis Type 1	Cataract, Myoclonus, Tremor, Gait disturbance, Corneal opacity, Ataxia, Slurred speech	ORPHA:812
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Tremor, Juvenile catarac...	OMIM:300055
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Spasticity, Spastic paraplegia, Pseudobulbar paralysis, Tremor, Babinski sign, Gait dis...	OMIM:616586
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre...	OMIM:210000
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa...	OMIM:613280
Hsd10 Disease	Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:391417
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel...	OMIM:607483
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
X-Linked Charcot-Marie-Tooth Disease Type 5	Gait disturbance, Paraparesis, Tremor, Ataxia	ORPHA:99014
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Gm1-Gangliosidosis, Type Iii	Myoclonus, Ataxia, Dystonia, Opacification of the corneal stroma, Slurred speech	OMIM:230650
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
4H Leukodystrophy	Cataract, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxi...	ORPHA:289494
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Babinski sign, ...	OMIM:302800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine...	OMIM:609270
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Gait disturbance, Corneal opacity	OMIM:620469
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:300894
Juvenile Sialidosis Type 2	Cataract, Spasticity, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Corneal op...	ORPHA:93399
Spinocerebellar Ataxia 2	Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme...	OMIM:183090
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,...	ORPHA:96
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls	OMIM:159950
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short nose	OMIM:612563
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic...	OMIM:128100
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor...	ORPHA:101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Corneal opacity	OMIM:618815
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls	OMIM:616719
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia	ORPHA:542310
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Astigmatism, Tremor, Hypertonia, Ataxia	OMIM:619556
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t...	ORPHA:3095
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Dystonia, Tremor, Rigidity	OMIM:615010
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Spasticity, Gait ataxia, Corneal opacity, Spastic gait	ORPHA:496790
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Sjogren-Larsson Syndrome	Spasticity, Spastic paraparesis, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
C3 Glomerulopathy	Elevated circulating creatinine concentration, Lipodystrophy	ORPHA:329918
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Flexion contracture	OMIM:616733
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert...	ORPHA:137898
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia	OMIM:607694
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Impaire...	OMIM:300623
Mucolipidosis Type Iv	Ataxia, Gait disturbance, Corneal opacity	ORPHA:578
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Primary Progressive Freezing Gait	Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo...	ORPHA:75567
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Hurler-Scheie Syndrome	Abnormal pyramidal sign, Corneal opacity	ORPHA:93476
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Corneal opacity	OMIM:166300
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma, Gait disturbance	OMIM:271630
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Thrombocytopenia, ...	OMIM:608104
Congenital Rubella Syndrome	Cataract, Spastic diplegia, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Neuronal Intranuclear Inclusion Disease	Gait disturbance, Rigidity, Tremor, Ataxia	OMIM:603472
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity	ORPHA:3077
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Waddling gait, Corneal opacity	ORPHA:2788
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal...	OMIM:208920
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168600
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Peroxisome Biogenesis Disorder 5B	Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity	OMIM:152950
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Cellulitis, Lymphopenia, Hepatosplenomegaly...	OMIM:618986
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, Loss of ambulation...	ORPHA:206443
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, ...	ORPHA:765
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Alpha-Mannosidosis, Adult Form	Ataxia, Cataract, Clumsiness, Corneal opacity	ORPHA:309288
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ...	OMIM:312080
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168605
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia,...	ORPHA:282166
Mohr-Tranebjaerg Syndrome	Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr...	ORPHA:52368
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Congenital Sialidosis Type 2	Cataract, Spasticity, Myoclonus, Dysmetria, Corneal opacity, Developmental cataract, Ataxia	ORPHA:93400
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte...	OMIM:616505
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Wide nasal bridge, Elevated circulating creatinine concentration, Inguinal hernia	OMIM:614376
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Spasticity, Ocular albinism, Abnormality of extrapyramidal motor...	ORPHA:2719
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia	ORPHA:529665
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,...	ORPHA:363400
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity	OMIM:619339
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr...	ORPHA:442835
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Scheie Syndrome	Spastic paraparesis, Cerebral palsy, Corneal opacity	ORPHA:93474
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Leukoencephalopathy With Ataxia	Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Cystathioninuria	Tremor	ORPHA:212
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem...	ORPHA:36234
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Gm1 Gangliosidosis	Spasticity, Decerebrate rigidity, Generalized dystonia, Tremor, Abnormality of extrapyramidal mot...	ORPHA:354
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Saccharopinuria	Gait ataxia, Tremor, Spastic diplegia	ORPHA:3124
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a...	OMIM:614298
Mietens Syndrome	Sclerocornea, Cataract, Microcornea, Corneal opacity	ORPHA:2557
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Keratitis, Corneal opacity	OMIM:602562
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Cystinosis	Gait disturbance, Abnormal pyramidal sign, Corneal opacity	ORPHA:213
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Microphthalmia/Coloboma 9	Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis	OMIM:615145
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Classic Phenylketonuria	Cataract, Hemiplegia, Paraplegia, Tremor, Hypertonia	ORPHA:79254
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Neutrophilia, Elevated...	OMIM:617099
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Aceruloplasminemia	Blepharospasm, Involuntary movements, Akinesia, Limb ataxia, Gait ataxia, Chorea, Tremor, Rigidit...	ORPHA:48818
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Gait disturbance, Corneal opacity, Ataxia, Corne...	ORPHA:1764
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia...	OMIM:617237
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy	ORPHA:1806
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Iris atrophy, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract, Spasticity, Intention tremor, Ataxia	OMIM:117300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinine concentrati...	OMIM:608836
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Fucosidosis	Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Corneal opacity	ORPHA:349
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Multiple Sulfatase Deficiency	Ataxia, Spasticity, Corneal opacity	OMIM:272200
Jaberi-Elahi Syndrome	Cataract, Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticity, T...	OMIM:617988
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor	OMIM:612164
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholestero...	OMIM:618885
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Difficulty walking, Inability to walk, Speech apraxia, Chorea, Tremor, Hyperkinetic mov...	OMIM:615356
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia	ORPHA:683
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Microphthalmia With Brain And Digit Anomalies	Sclerocornea, Cataract, Microcornea, Iris coloboma	ORPHA:139471
Lowry-Maclean Syndrome	Hemiparesis, Corneal opacity, Developmental glaucoma, Megalocornea	ORPHA:2409
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro...	ORPHA:760
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Poor fine motor coordination, Tip-toe gait, Difficulty walking, Inability to walk, Trem...	ORPHA:99956
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Spastic gait, Spas...	ORPHA:447753
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Mucolipidosis Type Iii Alpha/Beta	Difficulty walking, Loss of ambulation, Corneal opacity	ORPHA:423461
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem...	ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Conjunctival telangiectasia, Progressive g...	OMIM:606002
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Spasticity, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Tetraparesis...	OMIM:175780
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Oculocerebrocutaneous Syndrome	Iris coloboma, Hemiplegia/hemiparesis, Corneal opacity	ORPHA:1647
Lcat Deficiency	Corneal opacity	ORPHA:650
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkinetic movements, Corne...	OMIM:615273
Mucopolysaccharidosis, Type Ivb	Ataxia, Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circulating apolipop...	ORPHA:85450
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Tay-Sachs Disease	Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Incoordination, Fasciculations, Myoc...	ORPHA:845
Farber Disease	Spasticity, Myoclonus, Paraparesis, Corneal opacity, Opacification of the corneal stroma, Abnorma...	ORPHA:333
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	OMIM:612109
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Zellweger Syndrome	Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity	ORPHA:912
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridemia, Anemia, Flexion...	OMIM:617591
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Walker-Warburg Syndrome	Cataract, Microcornea, Iris coloboma, Corneal opacity	ORPHA:899
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Microphthalmia/Coloboma 12	Peters anomaly, Corneal opacity	OMIM:120200
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pure red cell aplasia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neut...	OMIM:613179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia	ORPHA:247691
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Hypertonia, Ataxia	OMIM:601853
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Corneal opacity	OMIM:301056
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity	ORPHA:284160
Wilson Disease	Difficulty walking, Clumsiness, Kayser-Fleischer ring	ORPHA:905
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, D...	ORPHA:2686
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Encephalocraniocutaneous Lipomatosis	Spasticity, Hemiplegia, Hemiparesis, Rigidity, Paralysis, Tetraplegia, Hypertonia, Corneal opacit...	ORPHA:2396
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response	OMIM:620327
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Gai...	OMIM:234200
Young-Onset Parkinson Disease	Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia	ORPHA:2828
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa...	OMIM:601104
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Wagro Syndrome	Cataract, Aniridia, Corneal opacity	OMIM:612469
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver...	ORPHA:54251
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity	OMIM:616603
Mucopolysaccharidosis Type 3	Ataxia, Cataract, Vocal cord paresis, Spasticity, Loss of ambulation, Gait disturbance, Abnormal ...	ORPHA:581
Schimke Immuno-Osseous Dysplasia	Hemiplegia, Hemiparesis, Corneal opacity	ORPHA:1830
Mucopolysaccharidosis Type 4	Gait disturbance, Corneal opacity	ORPHA:582
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Pseudo-Torch Syndrome 1	Dystonia, Cataract, Spasticity, Opacification of the corneal stroma	OMIM:251290
Scheie Syndrome	Corneal opacity	OMIM:607016
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
De Barsy Syndrome	Progressive cerebellar ataxia, Cataract, Athetosis, Corneal opacity	ORPHA:2962
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Incontinentia Pigmenti	Cataract, Spasticity, Keratitis, Hemiplegia/hemiparesis, Gait disturbance, Corneal opacity	ORPHA:464
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia	ORPHA:2268
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Wide nasal bridge, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Inguinal hernia, Er...	OMIM:612541
3Q29 Microduplication Syndrome	Sclerocornea, Cataract, Aniridia, Iris coloboma	ORPHA:251038
Chromosome 6Pter-P24 Deletion Syndrome	Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac...	OMIM:612582
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Histiocytoid Cardiomyopathy	Megalocornea, Hemiplegia, Lethargy, Corneal opacity, Congenital aphakia	ORPHA:137675
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane...	ORPHA:508542
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Hurler Syndrome	Spastic paraparesis, Abnormal pyramidal sign, Cerebral palsy, Corneal opacity	ORPHA:93473
Multicentric Osteolysis, Nodulosis, And Arthropathy	Gait disturbance, Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Alpha-Mannosidosis, Infantile Form	Cataract, Spastic paraplegia, Astigmatism, Clumsiness, Corneal opacity, Ataxia	ORPHA:309282
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri...	OMIM:618935
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Oligomeganephronia	Elevated circulating creatinine concentration, Congenital diaphragmatic hernia	ORPHA:2260
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas...	OMIM:243150
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Sclerocornea, Cataract, Microcornea, Ectopia pupillae	OMIM:615877
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma	OMIM:243605
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Hurler Syndrome	Opacification of the corneal stroma, Corneal opacity	OMIM:607014
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Astigmatism	ORPHA:2095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos	OMIM:236670
Ataxia-Telangiectasia	Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Conjunctival telangie...	OMIM:208900
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma	ORPHA:77298
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Mucopolysaccharidosis Type 1	Hemiplegia/hemiparesis, Corneal opacity	ORPHA:579
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia, Sterile abscess, Neutro...	ORPHA:3243
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy, Sl...	ORPHA:495875
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Focal Dermal Hypoplasia	Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris	ORPHA:2092
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto...	ORPHA:829
Tbck-Related Intellectual Disability Syndrome	Inability to walk, Corneal opacity	ORPHA:488632
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae	OMIM:608940
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Galloway-Mowat Syndrome 1	Cataract, Spasticity, Hypoplasia of the iris, Ataxia, Dystonia, Opacification of the corneal stro...	OMIM:251300
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Limbal dermoid, Hypoplasia of the iris	OMIM:613001
Tangier Disease	Opacification of the corneal stroma	OMIM:205400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gait disturbance, Astigmatism, Corneal opacity	ORPHA:464311
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Mosaic Trisomy 9	Corneal opacity	ORPHA:99776
Wilson Disease	Sunflower cataract, Poor motor coordination, Hand tremor, Kayser-Fleischer ring, Limb dystonia, T...	OMIM:277900
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Norrie Disease	Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Clonus, Aplasia/Hypo...	ORPHA:649
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Broad-based gait, Limb ataxia, Paralysis, Oculomotor apraxia, Hypertonia, Cor...	ORPHA:2072
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Elevated circ...	OMIM:620565
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Dyrk1A-Related Intellectual Disability Syndrome	Gait disturbance, Astigmatism, Corneal opacity	ORPHA:464306
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Fryns Syndrome	Corneal opacity	ORPHA:2059
Schimke Immunoosseous Dysplasia	Opacification of the corneal stroma, Astigmatism, Waddling gait	OMIM:242900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea	ORPHA:536471
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Opacification of the corneal stroma, Loss of ambulation, Unsteady gait, Brushfield spot...	OMIM:214100
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Opacification of the corneal stroma	OMIM:214110
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Fabry Disease	Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Corneal dystrophy	ORPHA:324
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Lathosterolosis	Cataract, Microcornea, Opacification of the corneal stroma, Myoclonus	ORPHA:46059
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract	OMIM:158310
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma, Waddling gait	OMIM:253000
Chromosome 8Q21.11 Deletion Syndrome	Sclerocornea, Cataract	OMIM:614230
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Gaucher Disease	Tremor, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor function, Oculomotor apraxia,...	ORPHA:355
Phace Syndrome	Cataract, Hemiplegia/hemiparesis, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma	ORPHA:42775
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Clonus, Corneal opacity, Buphthalmos	ORPHA:534
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Carpenter Syndrome 1	Microcornea, Opacification of the corneal stroma	OMIM:201000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Athetosis, Opacification of the corneal stroma, Lethargy, Brushfield spots	OMIM:614866
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Normocytic anemia, Chorioretinal scar, Elevated circulating creatinine concentrati...	ORPHA:91500
Moebius Syndrome	Corneal opacity	ORPHA:570
Williams Syndrome	Ataxia, Cataract, Spasticity, Involuntary movements, Megalocornea, Gait imbalance, Aplasia/Hypopl...	ORPHA:904
Xeroderma Pigmentosum	Cataract, Spasticity, Keratitis, Pterygium, Abnormality of extrapyramidal motor function, Conjunc...	ORPHA:910
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity	ORPHA:1052
Microphthalmia, Syndromic 3	Sclerocornea, Cataract, Spastic tetraplegia, Spastic diplegia	OMIM:206900
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Mucopolysaccharidosis, Type Vi	Corneal opacity	OMIM:253200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Linear Skin Defects With Multiple Congenital Anomalies 1	Sclerocornea, Cataract, Iris coloboma, Peters anomaly	OMIM:309801
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Osteogenesis Imperfecta	Tetraparesis, Loss of ambulation, Gait disturbance, Corneal opacity, Ataxia	ORPHA:666
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Neurofibromatosis Type 1	Cataract, Heterochromia iridis, Lisch nodules, Corneal opacity, Ataxia	ORPHA:636
Wiedemann-Rautenstrauch Syndrome	Cataract, Spasticity, Action tremor, Tremor, Limb hypertonia, Corneal opacity, Hypertonia, Ataxia...	ORPHA:3455
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Microphthalmia With Linear Skin Defects Syndrome	Sclerocornea, Posterior embryotoxon, Corneal opacity	ORPHA:2556
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Cockayne Syndrome B	Microcornea, Hypoplasia of the iris, Tremor, Developmental cataract, Ataxia, Opacification of the...	OMIM:133540
Wolf-Hirschhorn Syndrome	Sclerocornea, Iris coloboma, Ataxia, Megalocornea	ORPHA:280
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Larsen Syndrome	Corneal opacity	OMIM:150250
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ...	OMIM:249100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Inguinal hernia	ORPHA:935
Chime Syndrome	Corneal opacity	ORPHA:3474
Proboscis Lateralis	Cataract, Microcornea, Iris coloboma, Corneal opacity	ORPHA:141099
Cockayne Syndrome A	Cataract, Tremor, Gait disturbance, Ataxia, Opacification of the corneal stroma	OMIM:216400
Tangier Disease	Corneal opacity	ORPHA:31150
Oculoectodermal Syndrome	Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism	OMIM:600268
Peters Plus Syndrome	Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Smith-Lemli-Opitz Syndrome	Sclerocornea, Cataract, Iris coloboma, Hypertonia	ORPHA:818
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion	ORPHA:2273
Meckel Syndrome	Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris	ORPHA:564
Mucolipidosis Ii Alpha/Beta	Opacification of the corneal stroma, Tip-toe gait, Megalocornea	OMIM:252500
Limb Body Wall Complex	Lens subluxation, Iris coloboma, Corneal opacity	ORPHA:2369
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity	ORPHA:217085
Mucopolysaccharidosis Type 2	Corneal opacity	ORPHA:580
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity	ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Autosomal Dominant Cutis Laxa	Developmental cataract, Corneal opacity	ORPHA:90348
Hutchinson-Gilford Progeria Syndrome	Shuffling gait, Corneal ulceration, Corneal opacity	ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Spasticity, Megalocornea, Myoclonus, Buphthalmos, Opacification of the corneal stroma	OMIM:253280
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Neurocardiofaciodigital Syndrome	Sclerocornea, Cataract	OMIM:619869
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ...	OMIM:263650
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Hereditary Acrokeratotic Poikiloderma	Keratoconjunctivitis, Opacification of the corneal stroma	ORPHA:2907
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Yunis-Varon Syndrome	Sclerocornea, Cataract	ORPHA:3472
Roberts-Sc Phocomelia Syndrome	Cataract, Opacification of the corneal stroma, Corneal opacity	OMIM:268300
Digeorge Syndrome	Sclerocornea, Posterior embryotoxon, Hemiparesis	OMIM:188400
Fryns Syndrome	Opacification of the corneal stroma	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Opacification of the corneal stroma	OMIM:615287
Microphthalmia, Syndromic 6	Sclerocornea, Microcornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz...	OMIM:308205
Yunis-Varon Syndrome	Sclerocornea, Cataract	OMIM:216340

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 Klhdc2

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 Klhdc2.

No publications found that use IMPC mice or data for Klhdc2.

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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
Klhdc2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Klhdc2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Klhdc2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Klhdc2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Klhdc2^{tm1c(EUCOMM)Hmgu}	Wild type floxed exon (post-Flp)	Mice
Klhdc2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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Gene: Klhdc2 MGI:1916804

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Echo

X-ray

X-ray

X-ray

Embryo LacZ

MicroCT E18.5

MicroCT E14.5-E15.5

Auditory Brain Stem Response

Human diseases caused by Klhdc2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data