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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
increased circulating creatinine level	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.68×10^-11
preweaning lethality, complete penetrance	Klhdc2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal skin morphology	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
corneal opacity	Klhdc2^{tm1a(EUCOMM)Hmgu}	HET	Early adult	5.90×10^-05
tremors	Klhdc2^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.66×10^-05
enlarged heart	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
decreased lymphocyte cell number	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.24×10^-16
increased total body fat amount	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.81×10^-06
small thymus	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
decreased locomotor activity	Klhdc2^{tm1a(EUCOMM)Hmgu}	HET	Early adult	6.78×10^-06
abnormal snout morphology	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.84×10^-05
abnormal head morphology	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.29×10^-05
increased neutrophil cell number	Klhdc2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.38×10^-20

Download data as: TSV XLS

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lacZ Expression

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

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

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Echo

M-Mode Images

28 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Adult LacZ

LacZ Images Wholemount

21 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

MicroCT E18.5

Embryo reconstruction

2 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

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 (847 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	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Ataxia, Corneal dystrophy, Corneal opacity, Progressive cerebellar ataxia, Upper motor neuron dys...	ORPHA:3177
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spastic Paraparesis And Deafness	Tremor, Cataract, Spastic paraparesis	OMIM:312910
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, 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
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Astigmatism, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibul...	OMIM:617284
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Optic Atrophy 3, Autosomal Dominant	Tremor, Cataract, Abnormality of extrapyramidal motor function	OMIM:165300
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Morquio Syndrome C	Corneal opacity	OMIM:252300
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Galactosialidosis	Corneal opacity	ORPHA:351
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking	OMIM:615048
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia, Developmental cataract	ORPHA:1368
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Cataract, Ataxia	OMIM:278780
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Ethanolaminosis	Cardiomegaly	OMIM:227150
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Gómez-López-Hernández Syndrome	Ataxia, Corneal opacity	ORPHA:1532
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Winchester Syndrome	Corneal opacity	OMIM:277950
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n...	ORPHA:276435
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Mucolipidosis Iv	Corneal opacity, Babinski sign, Spastic tetraplegia, Opacification of the corneal stroma, Dystonia	OMIM:252650
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne...	OMIM:614170
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis	ORPHA:66633
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Limb dystonia	OMIM:620270
Harel-Yoon Syndrome	Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Dystonia, Spasticity	OMIM:617183
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Posterior subcapsular cataract, Ataxia	OMIM:300619
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Sialidosis Type 2	Tremor, Ataxia, Corneal opacity	ORPHA:87876
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia	OMIM:233910
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g...	OMIM:617013
Gm1-Gangliosidosis, Type Iii	Slurred speech, Ataxia, Opacification of the corneal stroma, Dystonia	OMIM:230650
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait	OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Tyrosinemia Type 2	Tremor, Ataxia, Corneal opacity	ORPHA:28378
Sialidosis Type 1	Cataract, Ataxia, Corneal opacity, Tremor, Slurred speech, Gait disturbance, Myoclonus	ORPHA:812
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia, Polycystic ovaries	ORPHA:275555
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Elevated circulating creatinine concentration	OMIM:616733
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait di...	OMIM:616586
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Hypohomocysteinemia, Hyp...	OMIM:617744
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
4H Leukodystrophy	Cataract, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of ...	ORPHA:289494
Juvenile Sialidosis Type 2	Lower limb spasticity, Cataract, Ataxia, Corneal opacity, Dysmetria, Myoclonus, Loss of ambulatio...	ORPHA:93399
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Perimembrano...	OMIM:608104
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol...	ORPHA:3095
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at...	OMIM:183090
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls	OMIM:159950
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Sjogren-Larsson Syndrome	Spasticity, Astigmatism, Opacification of the corneal epithelium, Spastic paraparesis	OMIM:270200
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes	OMIM:269920
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Brachyolmia Type 1, Toledo Type	Gait disturbance, Opacification of the corneal stroma	OMIM:271630
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Astigmatism	OMIM:619556
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose	OMIM:612563
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Corneal opacity, Inability to walk, Slurred speech, Athetosis, Abnormal cornea morphology...	ORPHA:357058
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Gait ataxia, Spasticity, Spastic gait	ORPHA:496790
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Supernumerary nipple, Elevated circulating creatinine concentratio...	OMIM:614376
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor...	ORPHA:137898
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Mucolipidosis Type Iv	Ataxia, Gait disturbance, Corneal opacity	ORPHA:578
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity	OMIM:607694
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Corneal opacity	OMIM:166300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Hurler-Scheie Syndrome	Abnormal pyramidal sign, Corneal opacity	ORPHA:93476
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym...	OMIM:256550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Spastic diplegia	ORPHA:290
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Neuronal Intranuclear Inclusion Disease	Tremor, Gait disturbance, Ataxia, Rigidity	OMIM:603472
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Corneal opacity, Waddling gait	ORPHA:2788
C3 Glomerulopathy	Lipodystrophy, Elevated circulating creatinine concentration	ORPHA:329918
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, L...	OMIM:208920
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait	ORPHA:3077
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit...	OMIM:618886
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Alpha-Mannosidosis, Adult Form	Corneal opacity, Cataract, Ataxia, Clumsiness	ORPHA:309288
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Congenital Sialidosis Type 2	Cataract, Ataxia, Corneal opacity, Dysmetria, Developmental cataract, Myoclonus, Spasticity	ORPHA:93400
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat...	OMIM:300280
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Myocarditis, Elevated cir...	ORPHA:36234
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Ataxia, Corneal opacity, Abnormal pyramidal sign, Spastic tetraplegia, Ocular albinism,...	ORPHA:2719
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte...	OMIM:616505
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa...	ORPHA:363400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	OMIM:608836
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc...	ORPHA:442835
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ...	OMIM:613095
Nephronophthisis 2	Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney	OMIM:602088
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Scheie Syndrome	Corneal opacity	OMIM:607016
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Scheie Syndrome	Cerebral palsy, Corneal opacity, Spastic paraparesis	ORPHA:93474
Cystathioninuria	Tremor	ORPHA:212
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Wide nasal bridge, Pericardial constriction, Ena...	OMIM:253250
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Corneal opacity, Tremor, Unsteady gait, Abnormality of extrapyramid...	ORPHA:354
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C...	OMIM:212140
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:617099
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Cardiomegaly	OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia	ORPHA:3124
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly	OMIM:619064
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp...	OMIM:614381
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo...	OMIM:235200
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ...	ORPHA:486
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center	ORPHA:277
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Cystinosis	Abnormal pyramidal sign, Gait disturbance, Corneal opacity	ORPHA:213
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D...	ORPHA:42
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenop...	OMIM:617591
Classic Phenylketonuria	Cataract, Tremor, Paraplegia, Hypertonia, Hemiplegia	ORPHA:79254
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial se...	OMIM:612541
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Cho...	OMIM:603903
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Wide nasal bridge, Congenital hypertro...	OMIM:239850
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Familial Dysautonomia	Ataxia, Corneal opacity, Corneal erosion, Abnormal pupil morphology, Gait disturbance, Heterochro...	ORPHA:1764
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath...	OMIM:619644
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract, Spasticity, Ataxia, Intention tremor	OMIM:117300
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Pineal cyst, Iron deficiency anemia, Decreased serum cre...	OMIM:618885
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Fucosidosis	Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Corneal opacity	ORPHA:349
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Cataract, Tremor, Inability to walk, Dysmetria, Gait a...	OMIM:617988
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia	OMIM:612164
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Lymphadenopathy, Cellulitis, Decr...	ORPHA:2686
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Multiple Sulfatase Deficiency	Spasticity, Ataxia, Corneal opacity	OMIM:272200
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Lowry-Maclean Syndrome	Hemiparesis, Megalocornea, Corneal opacity, Developmental glaucoma	ORPHA:2409
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Cataract, Tremor, Inability to walk, Chorea, Ath...	OMIM:615356
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Cardiomyopathy, Normochromic anemia, Elevated circulating creatinine concentra...	ORPHA:247691
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Spastic dysarthria, Lower...	ORPHA:447753
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, P...	OMIM:606002
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Oculocerebrocutaneous Syndrome	Hemiplegia/hemiparesis, Corneal opacity, Iris coloboma	ORPHA:1647
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Babinski sign, Polycoria, Developmental cataract, Hemiparesis, Microco...	OMIM:175780
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemi...	ORPHA:99826
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Flexion contracture, Wide nasal bridge, Hypertrophic car...	OMIM:616897
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Tremor, Inability to walk, Developmental glaucoma, Vocal cord paralysis, Poor fine moto...	ORPHA:99956
Lcat Deficiency	Corneal opacity	ORPHA:650
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Ventricular septal defect, Decreased response to gro...	OMIM:602782
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepato...	OMIM:618935
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati...	OMIM:617478
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormal...	ORPHA:276
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Farber Disease	Corneal opacity, Paraparesis, Abnormal conjunctiva morphology, Myoclonus, Opacification of the co...	ORPHA:333
Aapoaiv Amyloidosis	Cardiac amyloidosis, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated circulating creatinine...	ORPHA:439232
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, Myo...	OMIM:615273
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract	ORPHA:912
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Mucopolysaccharidosis, Type Ivb	Ataxia, Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Walker-Warburg Syndrome	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:899
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Gomez-Lopez-Hernandez Syndrome	Hypertonia, Ataxia, Opacification of the corneal stroma	OMIM:601853
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	ORPHA:391428
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu...	ORPHA:845
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Wilson Disease	Kayser-Fleischer ring, Difficulty walking, Clumsiness	ORPHA:905
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Corneal opacity	OMIM:301056
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly...	ORPHA:508542
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Lymphadenopathy, Bone marrow...	ORPHA:549
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ...	ORPHA:465508
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Arthrogryposis multiplex co...	OMIM:608013
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Dyggve-Melchior-Clausen Disease	Corneal opacity, Spastic tetraparesis, Inability to walk, Difficulty walking, Frequent falls	ORPHA:239
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased p...	ORPHA:90362
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Tremor, Fasciculations, Limb hypertonia	OMIM:620327
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Elevated circulating creatinine concentration, Mitral valve prolapse, Pituitary...	ORPHA:730
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus	OMIM:617022
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticit...	ORPHA:2396
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Hydrocele testis, Short nose, Lymphopenia	OMIM:605309
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly	OMIM:266500
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Schimke Immuno-Osseous Dysplasia	Hemiplegia, Hemiparesis, Corneal opacity	ORPHA:1830
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Cardiomegaly	OMIM:613320
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L...	OMIM:617713
Mucopolysaccharidosis Type 4	Corneal opacity, Gait disturbance	ORPHA:582
Mucopolysaccharidosis Type 3	Cataract, Ataxia, Corneal opacity, Abnormal pyramidal sign, Spasticity, Hypertonia, Gait disturba...	ORPHA:581
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Oligomeganephronia	Secundum atrial septal defect, Elevated circulating creatinine concentration, Congenital diaphrag...	ORPHA:2260
De Barsy Syndrome	Athetosis, Cataract, Corneal opacity, Progressive cerebellar ataxia	ORPHA:2962
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Increased mean p...	ORPHA:84064
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Pseudo-Torch Syndrome 1	Spasticity, Cataract, Opacification of the corneal stroma, Dystonia	OMIM:251290
Incontinentia Pigmenti	Cataract, Corneal opacity, Keratitis, Hemiplegia/hemiparesis, Gait disturbance, Spasticity	ORPHA:464
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Chronic noninfectious lymphadenopathy...	ORPHA:3261
Icf Syndrome	Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Chromosome 6Pter-P24 Deletion Syndrome	Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy...	OMIM:612582
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Long nose, Cryptorchidi...	OMIM:618143
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Histiocytoid Cardiomyopathy	Corneal opacity, Hemiplegia, Lethargy, Megalocornea, Congenital aphakia	ORPHA:137675
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:615688
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent...	ORPHA:79330
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Leukocy...	ORPHA:99829
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Wide nasal bridge, Umbilical hernia, Hypertrophic ...	ORPHA:1517
Hurler Syndrome	Corneal opacity, Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis	ORPHA:93473
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Gait disturbance	OMIM:259600
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect...	ORPHA:2306
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Alpha-Mannosidosis, Infantile Form	Cataract, Ataxia, Corneal opacity, Spastic paraplegia, Clumsiness, Astigmatism	ORPHA:309282
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Hernia	OMIM:230000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Ataxia-Telangiectasia	Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, ...	OMIM:208900
Stromme Syndrome	Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Hurler Syndrome	Corneal opacity, Opacification of the corneal stroma	OMIM:607014
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Parotitis, Lipodystr...	OMIM:256040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Hepatomegaly, Acanthocytosis, Cardiomeg...	ORPHA:14
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Wilson Disease	Dystonia, Poor motor coordination, Tremor, Rigidity, Hand tremor, Kayser-Fleischer ring, Abnormal...	OMIM:277900
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Corneal opacity, Corneal dystrophy, Slurred speech, Buphthalmos, Keratoconjunct...	ORPHA:495875
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Tbck-Related Intellectual Disability Syndrome	Inability to walk, Corneal opacity	ORPHA:488632
Focal Dermal Hypoplasia	Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis	ORPHA:2092
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Mucopolysaccharidosis Type 1	Hemiplegia/hemiparesis, Corneal opacity	ORPHA:579
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Galloway-Mowat Syndrome 1	Cataract, Ataxia, Spastic tetraplegia, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:251300
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex...	OMIM:245600
Tangier Disease	Opacification of the corneal stroma	OMIM:205400
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Iron deficiency anemia, Atria...	OMIM:300855
Mosaic Trisomy 9	Corneal opacity	ORPHA:99776
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity, Gait disturbance	ORPHA:464311
Whim Syndrome	Lymphadenitis, Cellulitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Neutropenia, Lymp...	ORPHA:51636
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce...	OMIM:620306
Gaucher Disease	Ataxia, Corneal opacity, Tremor, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor func...	ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Corneal opacity, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculom...	ORPHA:2072
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Clonus, Sclerocornea, Cataract, Ectopia lentis, ...	ORPHA:649
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity, Gait disturbance	ORPHA:464306
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Fryns Syndrome	Corneal opacity	ORPHA:2059
Schimke Immunoosseous Dysplasia	Waddling gait, Astigmatism, Opacification of the corneal stroma	OMIM:242900
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, C...	OMIM:252500
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214110
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Unsteady gait, Opacification of the corneal stroma, Loss of ambulatio...	OMIM:214100
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma	ORPHA:536471
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Lathosterolosis	Microcornea, Cataract, Myoclonus, Opacification of the corneal stroma	ORPHA:46059
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Loss of truncal subcutaneous adipose tissue, Cardiomegaly	ORPHA:2463
Phace Syndrome	Cataract, Sclerocornea, Hemiplegia/hemiparesis, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis	OMIM:158310
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Clonus, Abnormal pupil morphology, Buphthalmos, Lentiglobus	ORPHA:534
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Moebius Syndrome	Corneal opacity	ORPHA:570
Carpenter Syndrome 1	Microcornea, Opacification of the corneal stroma	OMIM:201000
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chr...	ORPHA:51
Bohring-Opitz Syndrome	Cardiomegaly, Bilateral wrist flexion contracture, Wide nasal bridge, Congenital contracture, Abn...	ORPHA:97297
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Mucopolysaccharidosis, Type Iva	Waddling gait, Opacification of the corneal stroma	OMIM:253000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Athetosis, Opacification of the corneal stroma, Lethargy	OMIM:614866
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy	ORPHA:324
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Abnormality of extrapyramidal motor fun...	ORPHA:910
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Microphthalmia, Syndromic 3	Cataract, Spastic tetraplegia, Sclerocornea, Spastic diplegia	OMIM:206900
Williams Syndrome	Flat cornea, Ataxia, Involuntary movements, Cataract, Corneal opacity, Tremor, Blue irides, Dysme...	ORPHA:904
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity	ORPHA:1052
Neurofibromatosis Type 1	Cataract, Corneal opacity, Ataxia, Lisch nodules, Heterochromia iridis	ORPHA:636
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:116
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
Mucopolysaccharidosis, Type Vi	Corneal opacity	OMIM:253200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Osteogenesis Imperfecta	Ataxia, Corneal opacity, Gait disturbance, Tetraparesis, Loss of ambulation	ORPHA:666
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Wiedemann-Rautenstrauch Syndrome	Cataract, Ataxia, Corneal opacity, Action tremor, Tremor, Hypertonia, Truncal ataxia, Spasticity,...	ORPHA:3455
Larsen Syndrome	Corneal opacity	OMIM:150250
Cockayne Syndrome B	Ataxia, Tremor, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the...	OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Corneal opacity, Sclerocornea	ORPHA:2556
Wolf-Hirschhorn Syndrome	Megalocornea, Ataxia, Iris coloboma, Sclerocornea	ORPHA:280
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Tangier Disease	Corneal opacity	ORPHA:31150
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Lymphopenia, Anemia	ORPHA:935
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contractu...	ORPHA:365
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Chime Syndrome	Corneal opacity	ORPHA:3474
Proboscis Lateralis	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:141099
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Lymphopenia	OMIM:613471
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Umbilical hernia	ORPHA:96191
Oculoectodermal Syndrome	Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma	OMIM:600268
Cockayne Syndrome A	Cataract, Ataxia, Tremor, Gait disturbance, Opacification of the corneal stroma	OMIM:216400
Smith-Lemli-Opitz Syndrome	Hypertonia, Iris coloboma, Sclerocornea, Cataract	ORPHA:818
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis	ORPHA:2273
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, ...	OMIM:130650
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Meckel Syndrome	Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea	ORPHA:564
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity	ORPHA:217085
Mucopolysaccharidosis Type 2	Corneal opacity	ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Myoclonus, Opacification of the corneal stroma, Spasticity, Megalocornea	OMIM:253280
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity	ORPHA:217093
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity, Shuffling gait	ORPHA:740
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Lathosterolosis	Cataract, Opacification of the corneal stroma	OMIM:607330
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cryptorchidism, Cardiomyopathy, Atrial septal defect, Te...	ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Digeorge Syndrome	Hemiparesis, Posterior embryotoxon, Sclerocornea	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
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hypophosph...	ORPHA:51608
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero...	OMIM:308205
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Yunis-Varon Syndrome	Cataract, Sclerocornea	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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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

X-ray

Echo

Embryo LacZ

Adult LacZ

X-ray

MicroCT E18.5

X-ray

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 20.1 Data