Gene Summary

Name:
homeodomain interacting protein kinase 2
Synonyms:
1110014O20Rik,  Stank,  B230339E18Rik

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
abnormal maxilla morphology Hipk2tm2b(EUCOMM)Hmgu HOM Early adult 3.12×10-05
abnormal snout morphology Hipk2tm2b(EUCOMM)Hmgu HOM Early adult 4.90×10-05
abnormal lens morphology Hipk2tm2b(EUCOMM)Hmgu HOM Early adult 1.67×10-05
preweaning lethality, incomplete penetrance Hipk2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased kidney weight Hipk2tm2b(EUCOMM)Hmgu HET Early adult 1.85×10-05
increased heart weight Hipk2tm2b(EUCOMM)Hmgu HET Early adult 4.50×10-05
abnormal tooth morphology Hipk2tm2b(EUCOMM)Hmgu HOM   Early adult 1.52×10-06

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% (4 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 75% (3 of 4)
Eye  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 75% (3 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote Ambiguous
Mammary gland  Wholemount images heterozygote 25% (1 of 4)
Olfactory lobe  Wholemount images heterozygote 75% (3 of 4)
Ovary  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 75% (3 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Skin  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 75% (3 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 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 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

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

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

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

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

Associated Images

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

Adult LacZ

LacZ Images Wholemount

21 Images

Echo

M-Mode Images

40 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Auditory Brain Stem Response

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

5 Images

Human diseases caused by Hipk2 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 Hipk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Ethanolaminosis
Cardiomegaly OMIM:227150
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Sensory ataxia, Dementia, Difficulty walking, Dystonia, Mental deterioration OMIM:619661
Autosomal Recessive Spastic Paraplegia Type 56
Unsteady gait, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia, Spastic gait ORPHA:320411
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Gait disturbance, Dystonia, Mental deterioration, Spasticity OMIM:614561
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Ataxia, Confusion, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Irritability, Dy... ORPHA:263410
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia OMIM:128101
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Unsteady gait, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia OMIM:615030
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Irritability, Dystonia, Spasticity OMIM:614249
Dystonia 30
Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia, Loss o... OMIM:619291
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia, Memory impairment OMIM:108600
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Tremor, Rigidity, Chorea, Depression, Cognitive impairment, Dystonia, Memory impairment ORPHA:401901
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Rigidity, Limb ataxia, Depression, Gait ataxia, Cognitive impairment, L... ORPHA:101109
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,... OMIM:619565
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Dystonia, Mental deterioration, Spasticity ORPHA:309169
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Depression, Gait ataxia, Progressive cerebellar ataxia, Attention defi... OMIM:605361
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia OMIM:611694
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, Spastic gait OMIM:618284
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Progressive neurologic deterioration, Cognitive impairment, Dystonia, Mental deterioration OMIM:619196
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotoni... OMIM:619389
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Kinetic tremor, Postural tremor, Abnormal cortical gyration... ORPHA:98756
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Chorea, Torsion dystonia, Choreoathetosis, Irritability, Paresthes... ORPHA:98811
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Rigidity, Chorea, Depression, Focal dystonia, Irritability, Gait disturbance, Cognitive i... ORPHA:216873
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity OMIM:619687
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Cognitive impairment,... OMIM:617284
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Impaired vibration sensation i... ORPHA:251282
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, Craniofacial d... OMIM:617054
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Dystonia 12
Torticollis, Tremor, Unsteady gait, Depression, Dystonia, Emotional lability OMIM:128235
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Dementi... OMIM:604326
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Tremor, Rigidity, Gait disturbance, Dystonia OMIM:600116
Epilepsy, Nocturnal Frontal Lobe, 4
Confusion, Dystonia OMIM:610353
Huntington Disease-Like 2
Chorea, Dementia, Gait disturbance, Dystonia, Memory impairment ORPHA:98934
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... OMIM:602629
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia OMIM:614860
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Depression, Gait ataxia, Generalized hypotonia, Limb dystonia, Emoti... ORPHA:71517
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Hypotonia, Choreoathetosis, Irritability, Hypertoni... OMIM:261630
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Basal Ganglia Calcification, Idiopathic, 1
Tremor, Rigidity, Chorea, Depression, Athetosis, Dysdiadochokinesis, Gait disturbance, Dystonia, ... OMIM:213600
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-t... OMIM:609195
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Tip-toe gait, Gait d... OMIM:615643
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:618276
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Chorea, Choreoathetosis, Dementia, Dystonia OMIM:125370
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Dystonia OMIM:618425
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Depression, Gait ataxia, Irritability, Progressive ce... ORPHA:248111
Spinocerebellar Ataxia 48
Ataxia, Tremor, Chorea, Dysmetria, Depression, Gait ataxia, Irritability, Dystonia, Mental deteri... OMIM:618093
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Myoclonus-Dystonia Syndrome
Torticollis, Dystonia, Writer's cramp, Depression ORPHA:36899
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Irritability, Dementia, Dystonia, Memory impa... OMIM:606438
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ... OMIM:618418
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Depression OMIM:159900
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Writer's cramp, Rigidity, Chorea, Atrophy/Degeneration affecting the brainst... ORPHA:98759
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Confusion, Rigidity, Chorea, Dysmetria, Depression, Frontal lobe dement... OMIM:607136
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Alternating Hemiplegia Of Childhood 2
Mental deterioration, Ataxia, Choreoathetosis, Dystonia OMIM:614820
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia OMIM:619966
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper ... OMIM:614898
Dystonia 16
Limb dystonia, Generalized dystonia, Postural tremor, Gait disturbance, Retrocollis, Cognitive im... OMIM:612067
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Impaired distal vibration sensation... OMIM:128230
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochok... OMIM:617145
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypotonia, Dysmetria, Dy... OMIM:617954
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Depression, Falls, Dystonia, Mental deterioration, Memory impairment ORPHA:240085
Dystonia 9
Spastic paraplegia, Choreoathetosis, Paresthesia, Cognitive impairment, Dystonia, Episodic ataxia OMIM:601042
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypotonia, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of t... OMIM:619301
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Depression, Gait disturbance, Cognitive impairment, Dystonia ORPHA:314632
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration affecting the brainstem... OMIM:612319
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Difficulty walking, Dystonia, Spasticity OMIM:617829
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Dystonia, Oculogyric crisis, Hypertonia, Attention deficit hyp... OMIM:617384
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Irritability, Falls, Generalized hypotonia, Dystonia, Spasticity OMIM:619224
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Pill-rolling tremor, Shuffling gait, Cognitive impairment, Dystonia, Loss of ambulation... OMIM:615528
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia OMIM:605407
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Gen... OMIM:616756
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Hypoplasia of the brainstem, Axial hypotonia, Dystonia OMIM:619651
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Cognitive impairment, Dystonia ORPHA:1171
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia OMIM:615159
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a... OMIM:617916
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity OMIM:607317
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Spinocerebellar Ataxia Type 1
Dystonia, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Impaired proprio... ORPHA:98755
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Loss of ambulatio... OMIM:618088
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Chorea, Choreoathetosis, Dystonia ORPHA:98810
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Axial hypotonia, Dystonia OMIM:618760
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Hand tremor, Depression, Dementia, Dystonia, Spasticity OMIM:615889
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... OMIM:180900
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Mental deterioration, Emotional... ORPHA:542310
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul... OMIM:614458
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Chorea, Writer's cramp, Dystonia ORPHA:98809
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Writer's cramp ORPHA:163727
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Dystonia, Mental deterioration, Spasticity OMIM:615924
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Rigidity, Hypotonia, Focal dyst... ORPHA:101150
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia OMIM:271930
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... ORPHA:49042
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosi... OMIM:233910
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Diminished ability to concentrate, Hypotonia, Dystonia OMIM:620243
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Tremor, Rigidity, Chorea, Subcortical dementia, Choreoathetosis, Blepharo... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Limb ... OMIM:616127
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Depression, Dementia, Dystonia OMIM:605909
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor... ORPHA:352649
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Chorea, Cogwheel rigidity, Hypert... OMIM:613135
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Dysmetria, Progressive spastic... OMIM:618404
Raynaud-Claes Syndrome
Lower limb spasticity, Hypotonia, Depression, Progressive cerebellar ataxia, Generalized hypotoni... OMIM:300114
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation OMIM:615010
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainstem, Hypertonia... OMIM:619302
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia OMIM:612126
Developmental And Epileptic Encephalopathy 44
Axial hypotonia, Irritability, Athetosis, Dystonia, Spasticity OMIM:617132
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Developmental And Epileptic Encephalopathy 7
Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Rigidity, Hypoplasia of the pons, Unsteady gait, Limb ataxi... ORPHA:98760
Neuroferritinopathy
Resting tremor, Writer's cramp, Chorea, Subcortical dementia, Leg dystonia, Focal dystonia, Front... ORPHA:157846
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Hypotonia, Limb dystonia OMIM:620270
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Hypoesthesia, Chorea, Dysmetria, Dystonia, Mental deterioration, Memory impairment OMIM:618317
Parkinsonism-Dystonia 2, Infantile-Onset
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait... OMIM:618049
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Chorea, Falls, Dystonia OMIM:619150
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis,... OMIM:261640
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia OMIM:601809
Amyotrophic Lateral Sclerosis 2, Juvenile
Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ... OMIM:205100
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb... OMIM:607565
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia, Mental deterioration OMIM:618824
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia OMIM:618239
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Depression, Difficulty walking, Dystonia, Generalized hypotonia ORPHA:306669
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Developmental And Epileptic Encephalopathy 69
Inability to walk, Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:618285
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Ataxia, Athetosis, Dystonia, Mental deterioration OMIM:619310
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... ORPHA:254881
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Truncal ataxia, Limb ataxia, Gait at... OMIM:208920
Hypermanganesemia With Dystonia 2
Axial hypotonia, Generalized dystonia, Dystonia, Progressive neurologic deterioration, Tremor, In... OMIM:617013
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche ORPHA:330050
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Confusion, Choreoathetosis, Spasticity OMIM:606777
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Infantile axial hypotonia, Tremor, Scissor gait, Dystonia, Oromandibular dystonia, Loss of ambula... ORPHA:521406
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Titubation, At... ORPHA:280219
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, H... OMIM:128100
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,... OMIM:617964
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Chorea, Dystonia OMIM:615473
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Head titubation, Hypotonia, Truncal ataxia, Limb ataxia, Cognitive impairment, Limb ... OMIM:617560
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Corticobasal Syndrome
Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Dementia, Gait disturbance, Limb dystoni... ORPHA:454887
Dystonia 28
Torticollis, Generalized dystonia, Precocious puberty, Leg dystonia, Depression, Arm dystonia, At... ORPHA:589618
Leigh Syndrome
Ataxia, Hypotonia, Hepatocellular necrosis, Focal substantia nigra T2 hyperintensity, Generalized... OMIM:256000
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia, Generalized hypotonia OMIM:616781
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Hypotonia, Dystonia OMIM:617820
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, Dystonia, Spa... OMIM:614254
3-Methylglutaconic Aciduria, Type I
Short attention span, Ataxia, Spastic tetraplegia, Athetosis, Dementia, Cognitive impairment, Dys... OMIM:250950
Dystonia 16
Torticollis, Unsteady gait, Postural tremor, Limb dystonia ORPHA:210571
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose ORPHA:90653
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Short no... OMIM:137550
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Amyotrophic lateral sclerosis, Athetosis, Dystonia OMIM:300857
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Unsteady gait, Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Dystonia... ORPHA:453521
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dementia, Cognitive impairment, Dystonia, Spast... ORPHA:79263
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Head titu... ORPHA:300605
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Rigidity, Thinning of the substantia nigra pars compac... OMIM:619911
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Confusion, Chorea, Choreoathetosis, Hypertonia, Dystonia, Spasticity ORPHA:71277
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Axial hypotonia, Hypothyroidism, Dystonia OMIM:619647
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... OMIM:312080
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal substantia nigra morphology, Rigidity, Hand tremor, Gait disturbance, Shuffling gait, Dy... ORPHA:289560
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity OMIM:251950
Manganese Poisoning
Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Cogwheel rigi... ORPHA:306682
Developmental And Epileptic Encephalopathy 53
Hypotonia, Spastic tetraplegia, Progressive neurologic deterioration, Dystonia OMIM:617389
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Difficulty walking, L... ORPHA:99657
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Cogwheel rigidity, Choreoathetosis, Gait ataxia... ORPHA:225154
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Atrophy/Degeneration affecting the brainstem, Athetosis, Generalized hypotonia, Dystonia,... OMIM:617493
Infantile Dystonia-Parkinsonism
Axial hypotonia, Oculogyric crisis, Chorea, Irritability, Hypertonia, Dystonia, Limb hypertonia ORPHA:238455
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia ORPHA:53583
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Abnormal anterior chamber morphology, Wide nasal bridge, Aplasia/Hypop... ORPHA:782
Huntington Disease
Bradyphrenia, Rigidity, Inability to walk, Chorea, Depression, Irritability, Gait disturbance, Ho... ORPHA:399
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Pro... ORPHA:206448
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Rigidity, Dementia, Iron accumulation in substantia nigra, Dystonia, Spastic paraparesis ORPHA:329284
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Abnormal substantia nigra morphology,... ORPHA:98808
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, D... ORPHA:96
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Gait disturbance, Dystonia, Decreased serum testosterone concentration, Im... ORPHA:101006
Septopreoptic Holoprosencephaly
Short attention span, Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, P... ORPHA:280195
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Joubert Syndrome 4
Ataxia, Hypotonia, Generalized hypotonia, Molar tooth sign on MRI, Elongated superior cerebellar ... OMIM:609583
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Irritability, Hypertonia, Difficulty walk... ORPHA:79097
Huntington Disease-Like 3
Ataxia, Chorea, Unsteady gait, Dystonia, Mental deterioration, Spasticity OMIM:604802
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Depression... ORPHA:13
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Confusion, Rigidity, Truncal titubation, Inability to walk, Chorea, Opisthotonus... OMIM:607483
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Rigidity, Inability to walk, Chorea, Dystonia, Mental deterioration, Spasticity OMIM:617672
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Tremor, Oromandibular dysto... OMIM:614298
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Tremor, Rigidity, Depression, Dementia, Dystonia, Short... OMIM:168600
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Microcornea, Short philtrum,... OMIM:601499
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Astigmatism, Everted l... OMIM:614753
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia OMIM:260300
Huntington Disease-Like 3
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Progressiv... ORPHA:157946
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Generalized hypotonia, Dystonia OMIM:618224
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Irritability, Dystonia OMIM:250620
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Hypotonia, Attention deficit hyperactivity disorder, Dystonia OMIM:619157
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Generalized hypotonia, Dystonia OMIM:617836
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Irritability, Dystonia, Infantile muscular hypotonia, Premature pubarche ORPHA:457205
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Head tremor, Dystonia,... OMIM:613724
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Gait disturbance, Limb dystoni... ORPHA:508093
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia OMIM:314250
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystonia, Loss of ambulatio... OMIM:611390
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Tremor, Chorea, Depression, Hypertonia, Dystonia, Action tremor OMIM:619738
Posttransplant Acute Limbic Encephalitis
Ataxia, Confusion, Depression, Cognitive impairment, Dystonia, Memory impairment ORPHA:163921
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Spasticity OMIM:612716
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity OMIM:610246
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Hypotonia, Dystonia, Spasticity, Pachygyria OMIM:620094
4H Leukodystrophy
Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to... ORPHA:289494
Leber Optic Atrophy And Dystonia
Athetosis, Spasticity, Dementia, Dystonia OMIM:500001
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Unsteady gait, Dystonia OMIM:301107
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, S... OMIM:614066
Joubert Syndrome 27
Axial hypotonia, Ataxia, Hypotonia, Gait ataxia, Molar tooth sign on MRI OMIM:617120
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Lower limb spasticity, Broad-based gait, Ataxia, Inability to... OMIM:617854
16P11.2P12.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Cognitive impairment, Dystonia, Spastic pa... OMIM:614487
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Dystonia, Neonatal hypotonia OMIM:618218
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho... OMIM:619653
Joubert Syndrome 31
Molar tooth sign on MRI, Hypotonia, Truncal ataxia OMIM:617761
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth OMIM:246560
Foxg1 Syndrome
Inability to walk, Hypotonia, Choreoathetosis, Cognitive impairment, Dystonia, Difficulty walking... ORPHA:561854
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Chorea, Hypotonia, Dystonia, Spasticity OMIM:616139
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Infantile Convulsions And Choreoathetosis
Choreoathetosis, Athetosis, Chorea, Dystonia ORPHA:31709
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Tremor, Spastic paraplegia, Spastic te... OMIM:300055
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Generalized hypotonia, Dystonia, Spa... OMIM:618238
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Hypoplasia of the pons, Irritability, Hypertonia, Dystonia, Sp... OMIM:615809
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive neurologic deterioration, Hypotonia, Focal dystonia, Spastic dysarth... ORPHA:447757
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Facial hypotonia, Hypotonia, Spastic dysarthria, Difficulty walking, Dystonia, Spa... ORPHA:280763
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia OMIM:619054
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Dystonia, Ataxia, Cognitive impairment, Atrophy/Degeneration affect... OMIM:616267
Spinocerebellar Ataxia 21
Postural tremor, Ataxia, Akinesia, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cereb... OMIM:607454
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Hypotonia, Athetosis, Dystonia ORPHA:382
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity, Infantile ... ORPHA:500180
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Somatic sensory dysfunction, Ataxia, Cognitive impairment, Dystonia ORPHA:459033
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Unsteady gait, Spastic tetraplegia, Dystonia, Neonatal hypotonia OMIM:245349
Leukodystrophy, Hypomyelinating, 14
Spasticity, Generalized hypotonia, Dystonia OMIM:617899
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, Dysdiadochokinesis,... ORPHA:98805
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Dementia, Falls, Cognitive impairment... ORPHA:683
Atypical Rett Syndrome
Impaired pain sensation, Tremor, Inability to walk, Hypotonia, Gait ataxia, Pill-rolling tremor, ... ORPHA:3095
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Choreoathetosis, Cognitive impairme... OMIM:608804
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypotonia, Irritability, Hypertonia, Dystonia, Neonatal hypotonia OMIM:264470
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Dystonia OMIM:619065
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Dystonia, Ataxia, Tremor, Gait apraxia, Dysmetria, Depression, Gait ataxia, Limb ... OMIM:615157
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal... OMIM:245348
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Puberty and gonadal disorders, Uns... ORPHA:464282
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat... OMIM:604391
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Long nose, Hypoplasia of the ... OMIM:257850
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Sho... ORPHA:391411
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Chorea, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:606703
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:618237
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance, Dystonia OMIM:618141
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism, Crowded maxillary incisors ORPHA:397973
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Progressive cerebellar ataxia, Hypotonia, Dystonia ORPHA:139485
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Insulin-resistant diabetes mellitus, Chorea, Difficulty walking, Dystonia... ORPHA:401768
Dystonia 26, Myoclonic
Torticollis, Depression, Blepharospasm, Dystonia, Laryngeal dystonia OMIM:616398
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inabili... OMIM:611890
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia, Hypotonia OMIM:617767
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Dystonia, Postural tremor, Ataxia, Depression, Gait... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Leukodystrophy, Hypomyelinating, 6
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:612438
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Spastic tetraparesis OMIM:619052
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria, Ataxia, Hypotonia OMIM:617757
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Inability to walk, Hypotonia, Dystonia OMIM:618497
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wide nasal bridge... OMIM:180500
Leukodystrophy, Hypomyelinating, 20
Torticollis, Spastic tetraplegia, Irritability, Hypertonia, Dystonia OMIM:619071
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Head titubation, Dysesthesia, Generalized hypotonia, Dystonia, Progressive spasticity, Di... ORPHA:527497
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Rigidity, Leg dystonia, Loss of ambulation, Depression, Choreoathetosis, Dementia, Gait... ORPHA:157850
Ataxia-Telangiectasia-Like Disorder
Hypergonadotropic hypogonadism, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gener... ORPHA:251347
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Head tre... ORPHA:420492
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Malar flattening, Long philtrum ORPHA:261295
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Frontotemporal dementia, Gait disturbance, Dystonia, Memory impairment OMIM:600795
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Cataract, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Mala... OMIM:620157
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Spastic paraplegia, Distal sensory impairment, D... OMIM:606693
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Hypoplasia of the brainstem, Difficul... OMIM:617807
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor OMIM:608105
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Shuffling g... ORPHA:53351
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Dystonia OMIM:616684
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Arm dy... OMIM:601338
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Abnormal lens morphology, Hypoplasia of the maxilla, Abno... ORPHA:363417
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Postural tremor, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambu... OMIM:607694
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Hypotonia, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Spasticity OMIM:616277
Postencephalitic Parkinsonism
Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis, Akinesia, Rigidity, Cogw... ORPHA:97349
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dyston... ORPHA:99750
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Frontonasal Dysplasia 1
Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal br... OMIM:136760
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Dystonia OMIM:619922
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Dystonia OMIM:619317
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Dystonia OMIM:620359
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Mental deterioration, Progressive cerebellar ataxia, Substantia nigra hypointensity on susceptibi... OMIM:618868
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontotemporal dementia, Dementia, Gait disturbance, Dystonia, Loss of ambulation OMIM:167320
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Truncal ataxia, Gait ataxia, Cho... OMIM:618877
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia, Generalized hypotonia OMIM:617121
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Wide nasal bridge, Narrow mouth, Malar flattening, Abnormal palate ... ORPHA:2412
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Rigidity, Depression, Dementia, Gait disturbance, Shuffling gait, Dystonia, Menta... OMIM:168601
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic quadriplegia, Progressive gait ataxia, Dementia, Progressive cerebellar ataxi... ORPHA:513436
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Abnormal cortical gyration, Choreoathetosis, Hypoplasia of the ventral pons,... ORPHA:2524
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose, Narrow mouth ORPHA:1529
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Metachromatic Leukodystrophy
Ataxia, Chorea, Hypotonia, Spastic tetraplegia, Gait disturbance, Generalized hypotonia, Dystonia... OMIM:250100
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Dentatorubral Pallidoluysian Atrophy
Ataxia, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoathetosis, Blepharosp... ORPHA:101
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity OMIM:618917
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Hypogonadotropic hypogonadism, Postural tremor, Ataxia, Impaired distal proprioception,... ORPHA:447896
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Friedreich Ataxia
Diabetes mellitus, Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, Li... ORPHA:95
Mucolipidosis Iv
Progressive neurologic deterioration, Hypotonia, Spastic tetraplegia, Hypergastrinemia, Generaliz... OMIM:252650
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Axial hypotonia, Ataxia, Spastic tetraparesis, U... ORPHA:35069
Alzheimer Disease 3
Spastic tetraparesis, Dementia, Gait disturbance, Dystonia, Memory impairment, Optic ataxia OMIM:607822
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia OMIM:614932
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Juvenile cataract, Abnormality of the dentition ORPHA:1264
Gm2 Gangliosidosis, Ab Variant