Gene Summary

Name:
solute carrier family 6 (neurotransmitter transporter, glycine), member 5
Synonyms:
Glyt2

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 Slc6a5tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal sacral vertebrae morphology Slc6a5tm1.1(KOMP)Vlcg HET   Early adult 9.16×10-07
increased mean corpuscular hemoglobin concentration Slc6a5tm1.1(KOMP)Vlcg HET Early adult 2.30×10-05
abnormal lumbar vertebrae morphology Slc6a5tm1.1(KOMP)Vlcg HET   Early adult 9.16×10-07

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 66.67% (2 of 3)
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Cerebellum  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Esophagus  Section images heterozygote 33.33% (1 of 3)
Kidney  Wholemount images heterozygote 33.33% (1 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Prostate gland  Section images heterozygote 33.33% (1 of 3)
Spinal cord  Wholemount images  Section images heterozygote 100% (3 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 33.33% (1 of 3)
Jejunum N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 50% (2 of 4)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 4)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 50% (2 of 4)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 4)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 4)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 4)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 4)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (2 of 4)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 4)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 4)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 4)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 4)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 4)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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 Section

21 Images

Embryo LacZ

LacZ images wholemount

44 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

2 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Slc6a5 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.

The table below shows human diseases associated to Slc6a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperekplexia 3
Exaggerated startle response, Hypertonia OMIM:614618
Hereditary Hyperekplexia
Hypertonia, Ataxia, Myoclonus, Fasciculations, Rigidity, Spasticity ORPHA:3197

The table below shows human diseases predicted to be associated to Slc6a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Thrombocytopenia, Anemia, Short neck, Abnormal ... ORPHA:3319
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Muscular hypotonia of the trunk, Ataxi... OMIM:618598
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Generalized hypotonia, Ataxia, Hypotonia OMIM:213000
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Myoclonus, Failure to thrive, Clonus, Spasticity OMIM:618201
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Cleft Palate, Isolated
Seizure, Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, ... OMIM:119540
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Postnatal growth ret... ORPHA:309246
Hyperekplexia 3
Exaggerated startle response, Hypertonia OMIM:614618
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Gm2-Gangliosidosis, Ab Variant
Dystonia, Generalized hypotonia, Chorea, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sig... OMIM:272750
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Frequent ... OMIM:616921
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Myoclonus, Infantile muscular h... OMIM:612736
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short stature, Spasticity OMIM:618367
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Combined Saposin Deficiency
Generalized hypotonia, Hyperkinetic movements, Myoclonus, Babinski sign, Fasciculations, Optic at... OMIM:611721
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Generalized hypotonia, Hyperkinetic movements, Myoclonus, Rigidity, Spasticity OMIM:616981
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Tay-Sachs Disease
Exaggerated startle response, Hypertonia, Generalized hypotonia, Hypotonia OMIM:272800
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Muscular hypotonia of the trunk, Frequent falls ORPHA:494526
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Myoclonus, L... OMIM:602629
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Muscular hypotonia of the trunk, Limb tremor, Exaggerated startle response, Limb h... OMIM:608643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Progressive spasti... ORPHA:320406
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Frequent falls, Myoclonus OMIM:149400
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Ataxia, Seizure, Short mandibular rami, Dental malocclusion, Tongue at... OMIM:141300
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Myoclonus, Hypotonia OMIM:159900
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Muscular hypotonia of the trunk, Myoclonus, Babinski sign,... OMIM:607317
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Generalized hypotonia, Dysmetria, Hypotonia OMIM:616127
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Exaggerated startle response OMIM:609541
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Asparagine Synthetase Deficiency
Exaggerated startle response, Failure to thrive, Spastic tetraplegia, Muscular hypotonia of the t... OMIM:615574
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Hyperkinetic movements, Polymicrogyria, Oculogyric crisis, Myoclonus, Severe mu... OMIM:614254
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, Hyperactivity, High palate, Denta... OMIM:613684
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Generalized hypotonia, Ataxia, Stereotypy, Short stature OMIM:617862
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Hyperkinetic movements, Myoclonus, Choreoathetosis, Hypotonia OMIM:618497
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Valinemia
Hyperkinetic movements, Failure to thrive OMIM:277100
Epilepsy, Progressive Myoclonic, 11
Ataxia, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Generalized hypotonia, Clumsiness, Hypotonia, Ataxia, Short stature, Intention tremo... OMIM:608029
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movements, Optic atrophy,... OMIM:617282
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Frequent falls, Myoclonic spasms, Rigidity OMIM:184850
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Generalized hypotonia, Incoordination, Limb ataxia, Spasticity, Ataxia, Shor... OMIM:213200
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Stiff Person Spectrum Disorder
Exaggerated startle response, Rigidity ORPHA:3198
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function, Hemiparesis, Myocl... OMIM:615338
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Muscular hypotonia of the trunk, Ankle clonus, Bradykinesia, Parkinsonism, Babi... OMIM:617013
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... OMIM:602099
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Ataxia, Action tremor, Intention tremor OMIM:302500
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lowe... ORPHA:251282
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Developmental And Epileptic Encephalopathy 69
Dystonia, Hyperkinetic movements, Muscular hypotonia of the trunk, Spastic tetraplegia, Myoclonus OMIM:618285
Sandhoff Disease
Impaired temperature sensation, Spasticity, Ataxia, Exaggerated startle response, Upper motor neu... OMIM:268800
Tay-Sachs Disease
Tremor, Dystonia, Generalized hypotonia, Clumsiness, Incoordination, Poor fine motor coordination... ORPHA:845
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia OMIM:614937
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Progressive cerebellar ataxia, Somatic s... ORPHA:98763
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive, Muscular hypotonia of the trunk OMIM:618951
Dystonia 23
Axial dystonia, Head tremor, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Choreoathetosis, Hypertonia, Muscular hypotonia of the trunk, Ataxia, Bradykine... OMIM:261640
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Generalized hypotonia, Ataxia OMIM:617917
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Infantile axial hypotonia, Ankle clonus, Bradykinesia, Parkinsonism, Babinski s... ORPHA:521406
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Action tremor, Ataxia, Short stature, Dysmetria OMIM:616291
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Myoclonus, Hypotonia OMIM:612016
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Facial hypotonia, Ataxia, Exaggerated startle response, Severe muscular hypotonia ORPHA:438216
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Generalized neonatal hypotonia, Action tremor, Intention tremor, Freq... ORPHA:314978
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Muscular hypotonia o... OMIM:613135
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Glycine Encephalopathy With Normal Serum Glycine
Clonus, Exaggerated startle response, Hypertonia, Muscular hypotonia of the trunk OMIM:617301
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Generalized hypotonia, Ataxia, Bradykinesia, Short stature, Rigidity OMIM:617836
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis, Hypotonia OMIM:261630
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus OMIM:608105
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Enhancement of the C-reflex OMIM:615127
Salt And Pepper Developmental Regression Syndrome
Generalized hypotonia, Myoclonus, Failure to thrive, Optic atrophy, Choreoathetosis, Hypotonia OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism, Limb dystonia ORPHA:210571
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormality of extrapyramidal motor function, Hypertonia, Abnormal pyramidal sign, Exaggerated st... OMIM:617527
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Seizure, Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Generalized hypotonia, Ataxia OMIM:619099
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Generalized hypotonia, Hypotonia, Abnormal pyramidal sign, Ataxia, Short ... OMIM:614947
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Abnormality of extrapyramidal motor function, Progressive spastic quadriplegia, Exagger... ORPHA:521426
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Cogwheel rigidity, Choreoathetosis, Gait ataxia, Hypertonia, Spastic tetraparesis, Tetr... ORPHA:225154
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Speech apraxia, Bradykinesia, Progressive extra... ORPHA:454887
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Baker-Gordon Syndrome
Dystonia, Neonatal hypotonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, ... OMIM:618218
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Somatic sensory dy... ORPHA:363710
Xeroderma Pigmentosum, Complementation Group G
Tremor, Growth delay, Ataxia, Spasticity OMIM:278780
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Hypotonia ORPHA:397933
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure ORPHA:22
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Generalized hypotonia, Gait ataxia, Chorea, Progressiv... ORPHA:98756
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Generalized hypotonia, Tetraplegia, Fasciculations, Hypotonia OMIM:300816
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Frequent falls, Chorea, Abnormal pyramidal sign, Parkinsonism, Focal dystonia... ORPHA:216873
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gene... ORPHA:352596
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Action tremor, Bradykinesia, Rigidity OMIM:606438
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Apraxia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Action tr... ORPHA:98762
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Congenital Disorder Of Glycosylation, Type In
Generalized hypotonia, Spasticity, Ataxia, Myoclonus, Failure to thrive, Hypotonia OMIM:612015
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia, Failure to thrive in infancy, Myoclonus, Babinski sign OMIM:619065
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eye... OMIM:618587
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Peho-Like Syndrome
Pachygyria, Neonatal hypotonia, Polymicrogyria, Myoclonus, Severe muscular hypotonia, Optic atrop... OMIM:617507
Spinocerebellar Ataxia 48
Tremor, Dystonia, Gait ataxia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Short stature ORPHA:1368
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Oculomotor apraxia, Muscular hypotonia of the trunk, Ataxia, Chor... OMIM:612716
Pontocerebellar Hypoplasia, Type 1A
Generalized hypotonia, Degeneration of anterior horn cells, Ataxia, Fasciculations, Hypotonia OMIM:607596
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticol... ORPHA:71517
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, S... OMIM:606777
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Mcdonough Syndrome
Open bite, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Dental malocclusion... ORPHA:2471
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Ataxia, Focal hemiclonic se... OMIM:607208
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Failure to thrive, Myoclonus, Muscular hypotonia of the trunk OMIM:610090
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Decerebrate rigidity, Infantile muscular hypotonia, Intrauterine gr... ORPHA:79255
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Choreoathetosis, Muscular hypotonia of the trunk, Ataxia, Short stature, Rigidi... OMIM:612438
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Spastic gait, High pa... OMIM:249630
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Somatic sensory dysfunction, Distal sensory... ORPHA:90117
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Parkinsonism, Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:162350
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Generalized hypotonia, Hypertonia, Intention tremor, Ataxia, Myoclonus, Failu... OMIM:618356
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Foxg1 Syndrome
Dystonia, Pachygyria, Hyperkinetic movements, Spasticity, Decreased body weight, Myoclonus, Stere... ORPHA:561854
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Chorea, Ataxia OMIM:615673
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Generalized hypotonia, Abnormality of extrapyramidal motor function... ORPHA:101150
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Generalized hypotonia, Rigidity, Dysmetria OMIM:618090
Pontocerebellar Hypoplasia, Type 1E
Neonatal hypotonia, Optic atrophy, Myoclonus OMIM:619303
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Facial palsy, Myoclonus, Fasc... OMIM:159950
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Spasticity, Ataxia, Myoclonus, Progressive spasticity, Choreoat... ORPHA:726
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Urocanase Deficiency
Tremor, Ataxia, Short stature OMIM:276880
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Hypotonia ORPHA:139406
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus, Failure to thrive, Hypotonia OMIM:618251
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Sotos Syndrome 3
Hyperactivity OMIM:617169
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Generalized hypotonia, Hypertonia, Abnormal pyramidal sign, Fasciculations, Hypotonia OMIM:616688
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal ... ORPHA:71277
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:613608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Generalized hypotonia, Hypotonia OMIM:253800
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Blepharospasm, Torticollis, Generalized dystonia, Limb dystonia, Involu... ORPHA:99657
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Generalized hypotonia, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Muscular hypotonia of the trunk, Bradykinesia, Limb hypertonia, O... ORPHA:70594
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Seizure, Hyperactivity, High... OMIM:610883
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Degeneration of anterior horn cells, Tongue fasciculations OMIM:253400
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Fasci... OMIM:105400
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Rigidity, Resting tremor, Bradykinesia ORPHA:306692
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Generalized hypotonia, Chorea, Babinski sign, Intention tremor, A... OMIM:130950
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Hypotonia ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Seizure, Abnormality... ORPHA:1327
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Generalized hypotonia, Chorea, Hyperkinetic movements, Involuntary movements, Athetosis... OMIM:617493
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Postnatal growth retardation, Ataxia, Myoclonus, In... ORPHA:391417
Optic Atrophy 11
Facial diplegia, Generalized hypotonia, Hyperkinetic movements, Ataxia, Dysmetria, Optic atrophy OMIM:617302
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Dystonia, Apraxia, Gait ataxia, Hypotonia, Neonatal hypotonia, Abnor... ORPHA:3095
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Muscular hypotonia of the trunk, Myoclonus, Optic atrophy, Spasticity OMIM:617669
Familial Dyskinesia And Facial Myokymia
Dystonia, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hypertonia, Myoclonus ORPHA:324588
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Tremor, Hyperkinetic movements, Limb hypertonia, Severe muscular hypot... OMIM:233910
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Difficulty walking, Focal-onset seizure, Delayed menarche, Bilateral... ORPHA:330050
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Muscular hypotonia of the trunk, Ankle clo... OMIM:617435
Alpha-Mannosidosis
Open bite, Macroglossia, Narrow palate, Craniofacial hyperostosis, Mandibular prognathia, Gingiva... ORPHA:61
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Isaac Syndrome
Fasciculations, Weight loss ORPHA:84142
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus OMIM:220300
Ceroid Lipofuscinosis, Neuronal, 1
Generalized hypotonia, Spasticity, Ataxia, Myoclonus, Optic atrophy, Hypotonia OMIM:256730
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... ORPHA:2382
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:204300
Muenke Syndrome
Seizure, High palate, Dental malocclusion, Malar flattening, Attention deficit hyperactivity diso... OMIM:602849
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 6B
Dystonia, Chorea, Hyperkinetic movements, Ataxia, Muscular hypotonia of the trunk, Myoclonus, Ste... OMIM:619317
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Spasticity, Ataxia, Rigidity, Hypotonia ORPHA:33445
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Tremor, Dystonia OMIM:617557
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Generalized hypotonia, Dysmetria, Intrauterine growth retardation, Hypotonia OMIM:615578
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Hypertonia, Myoclonus OMIM:617290
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Generalized hypotonia, Hypertonia, Ataxia, Myoclonus, Failure to thrive, Spasticity OMIM:618426
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myoclonus, Ataxia, Spasticity OMIM:545000
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykines... OMIM:213600
Schindler Disease, Type I
Generalized hypotonia, Spasticity, Myoclonus, Optic atrophy, Hypotonia OMIM:609241
Continuous Spikes And Waves During Sleep
Dystonia, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic ... ORPHA:725
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Fasciculations, Amyotrophic lateral sclerosis OMIM:613954
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Muscular hypotonia of the trunk... OMIM:614831
Dystonia 28, Childhood-Onset
Dystonia, Craniofacial dystonia, Laryngeal dystonia, Torticollis, Myoclonus, Oromandibular dyston... OMIM:617284
Childhood-Onset Spasticity With Hyperglycinemia
Generalized hypotonia, Hypertonia, Spastic diplegia, Ataxia, Myoclonus, Babinski sign, Progressiv... ORPHA:401866
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign, Failure to thrive, Severe muscular hypotonia ORPHA:477673
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Spasticity OMIM:617829
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Optic atrophy, Rigidity, Small for gestational age OMIM:619057
Intellectual Developmental Disorder, X-Linked 12
Tremor, Hypotonia, Hyperkinetic movements, Abnormality of neuronal migration, Truncal obesity, Sm... OMIM:300957
Autosomal Spastic Paraplegia Type 58
Fasciculations, Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramida... ORPHA:397946
Creutzfeldt-Jakob Disease
Myoclonus, Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis OMIM:123400
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Abnormal pyramidal sign, Rigidity OMIM:260540
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis OMIM:619141
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment OMIM:618387
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Ataxia, Short statu... ORPHA:1170
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Short philtrum, Drooling, Wide mouth, Thin upper lip vermilion, Seizure, Micro... OMIM:619293
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Dental... OMIM:253250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Waddling gait, Bifid uvula, High palate, Dental malocclusion OMIM:612350
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Amyotrophic lateral sclerosis OMIM:608030
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Generalized hypotonia, Impaired vibratory sensation, Limb at... OMIM:183090
Cataract, Ataxia, Short Stature, And Mental Retardation
Postural tremor, Generalized hypotonia, Ataxia, Short stature, Hypotonia OMIM:300619
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Muscular hypotonia of the trunk, Polymicrogyria, Myoclonus, Failure to thrive, Rigidity OMIM:300673
Perry Syndrome