Gene Summary

Name:
kelch domain containing 2
Synonyms:
HCLP-1,  D12Ertd522e,  2310022K15Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Klhdc2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased neutrophil cell number Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 8.38×10-20
increased total body fat amount Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 1.83×10-06
abnormal snout morphology Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 2.86×10-05
abnormal skin morphology Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal head morphology Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 4.32×10-05
increased circulating creatinine level Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 3.83×10-11
tremors Klhdc2tm1a(EUCOMM)Hmgu HET Early adult 1.66×10-05
decreased lymphocyte cell number Klhdc2tm1b(EUCOMM)Hmgu HET Early adult 1.24×10-16
corneal opacity Klhdc2tm1a(EUCOMM)Hmgu HET Early adult 5.90×10-05
decreased locomotor activity Klhdc2tm1a(EUCOMM)Hmgu HET Early adult 6.78×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.2% (6 of 500)
ear 0.2% (1 of 492)
embryo 0.4% (2 of 495)
eye 0.2% (1 of 491)
footplate 0.2% (1 of 496)
forebrain 0.2% (1 of 497)
forelimb 0.2% (1 of 494)
handplate 0.2% (1 of 491)
head 1.02% (5 of 492)
heart 0.2% (1 of 501)
hindbrain 1% (5 of 498)
hindlimb 0.2% (1 of 488)
liver 0.21% (1 of 479)
lung 0.21% (1 of 482)
mandibular process 0.2% (1 of 494)
maxillary process 0.2% (1 of 498)
midbrain 0.2% (1 of 493)
oral cavity 0.2% (1 of 491)
skin 0.2% (1 of 489)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 491)

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

21 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Auditory Brain Stem Response

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

4 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Upper motor neuron dys... ORPHA:3177
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Dermoids Of Cornea
Corneal opacity OMIM:304730
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis OMIM:312910
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
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Glutathionuria
Tremor OMIM:231950
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Tremor, Kinetic tremor OMIM:611808
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy, Spastic ataxia OMIM:271320
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... ORPHA:210571
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, As... OMIM:617284
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia OMIM:300660
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Immunodeficiency 40
Lymphopenia OMIM:616433
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Morquio Syndrome C
Corneal opacity OMIM:252300
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Immunodeficiency 8
Lymphopenia OMIM:615401
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... ORPHA:363710
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... OMIM:130950
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Developmental cataract, Tremor ORPHA:1368
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Gait... ORPHA:216873
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Cataract, Spasticity OMIM:278780
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Urocanase Deficiency
Tremor, Ataxia, Blue irides OMIM:276880
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Babinski sign, Spastic dysarthria, Lower limb spasticity, Tremor, Diffic... ORPHA:251282
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity OMIM:210000
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... OMIM:612067
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Immunodeficiency 19
Lymphopenia OMIM:615617
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Winchester Syndrome
Corneal opacity OMIM:277950
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Bradykinesia, Clumsiness, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Parkinsonism, Ri... OMIM:300894
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Mucolipidosis Iv
Corneal opacity, Babinski sign, Opacification of the corneal stroma, Spastic tetraplegia, Dystonia OMIM:252650
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Bradykinesia, Blepharospasm, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis ORPHA:66633
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Gait disturbance, Keratoconus, Keratoglobus, Sclerocornea, Decreased c... OMIM:614170
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Gait disturbance, Tremor, Spastic paraplegia, Cataract, Sp... OMIM:616586
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait OMIM:182920
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Dystonia OMIM:261640
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Steppage gait OMIM:618387
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Parkinsonism With Polyneuropathy
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:619279
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Tongue fasciculations ORPHA:276435
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sig... ORPHA:284324
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Bradykinesia, Laryngeal dystonia, Blepharospasm, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Cataract, Spasticity OMIM:614307
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination OMIM:614947
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Harel-Yoon Syndrome
Corneal opacity, Inability to walk, Ataxia, Developmental cataract, Spasticity, Dystonia OMIM:617183
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia, Lethargy OMIM:233910
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Clumsiness, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia ORPHA:87876
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Bradykinesia, Parkinsonism with favorable response to ... OMIM:606693
Cataract, Ataxia, Short Stature, And Mental Retardation
Ataxia, Posterior subcapsular cataract, Postural tremor OMIM:300619
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Motor stereotypy, Spastic tetraparesis OMIM:619470
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia OMIM:619724
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia OMIM:615530
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity, Myoclonus OMIM:616494
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradyk... ORPHA:240071
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... ORPHA:420492
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Inability to walk, Bradykinesia, Lower limb hypertonia, Tip-toe gait, Opi... OMIM:617013
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Tongue fasciculations, Frequent falls, Tremor, Difficulty walking, Fasciculations OMIM:159950
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking ORPHA:101077
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor OMIM:254900
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Bradykinesia, Clumsiness, Resting tremor, Hand tremor, Ankle ... OMIM:612953
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Dopa-Responsive Dystonia
Arm dystonia, Leg dystonia, Inability to walk, Poor coordination, Oculogyric crisis, Parkinsonism... ORPHA:255
Sialidosis Type 1
Corneal opacity, Ataxia, Myoclonus, Gait disturbance, Tremor, Cataract, Slurred speech ORPHA:812
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, Spastic ataxia OMIM:616795
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Babinski sign, Tremor, Spasticity, Steppage gait OMIM:609260
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity ORPHA:33445
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Dystonia ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Paraparesis, Ataxia, Tremor ORPHA:99014
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Gm1-Gangliosidosis, Type Iii
Slurred speech, Opacification of the corneal stroma, Dystonia OMIM:230650
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Inability to walk, Truncal titubation, Action tremor, Opisthotonus, Babi... OMIM:607483
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Tip-toe gait, Dysmetria, Hand tremor, Babinski sign, Gait disturbance, Tremor, Diffi... OMIM:302800
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Cataract, Progressive gait ataxia, Dystonia, Upper... ORPHA:289494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Short nose, Neutropenia, Wide nasal bridge OMIM:612563
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Juvenile Sialidosis Type 2
Loss of ambulation, Corneal opacity, Ataxia, Dysmetria, Myoclonus, Cataract, Spasticity, Lower li... ORPHA:93399
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdi... OMIM:183090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... ORPHA:102
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Spasticity, Spastic paraparesis, Astigmatism OMIM:270200
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Ataxia, Inability to walk, Astigmatism, Tremor OMIM:619556
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... ORPHA:101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria OMIM:610185
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia OMIM:614867
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Limb fasciculations ORPHA:90117
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Gait ataxia, Cataract, Spasticity, Spastic gait ORPHA:496790
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Loss of ambulation, Ataxia, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Inability to walk OMIM:166300
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Congenital Rubella Syndrome
Spastic diplegia, Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Hurler-Scheie Syndrome
Corneal opacity, Abnormal pyramidal sign ORPHA:93476
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Lower limb spasticity ORPHA:3077
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Tremor, Ataxia, Rigidity OMIM:603472
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
Immunodeficiency 95
Lymphopenia OMIM:619773
3-Methylglutaconic Aciduria, Type Viii
Tremor, Cataract, Dystonia, Hypertonia OMIM:617248
Primary Progressive Freezing Gait
Gait imbalance, Bradykinesia, Babinski sign, Rigidity, Frequent falls, Shuffling gait, Difficulty... ORPHA:75567
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thrombocyt... OMIM:608104
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Cln5 Disease
Ataxia, Inability to walk, Poor gross motor coordination, Clumsiness, Dysmetria, Dysdiadochokines... ORPHA:228360
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Loss of ambulation, Ataxia, Limb ataxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Oculomotor ... OMIM:208920
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Inability to walk, Spasticity OMIM:618718
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment