Gene Summary

Name:
attractin
Synonyms:
Mgca

IMPC Data Collections

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 eye morphology Atrntm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Atrntm1.1(KOMP)Vlcg HOM Early adult 4.86×10-05
increased mean corpuscular hemoglobin Atrntm1.1(KOMP)Vlcg HOM Early adult 2.58×10-07
increased mean corpuscular volume Atrntm1.1(KOMP)Vlcg HOM   Early adult 1.95×10-05
decreased grip strength Atrntm1.1(KOMP)Vlcg HOM Early adult 2.98×10-05

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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 100% (2 of 2)
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 100% (2 of 2)
Jejunum N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 100% (2 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 50% (1 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

106 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Atrn 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 Atrn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Inappropriate behavior, Astrocytosis, Myoclonus, Rigidity, Disinhibiti... OMIM:600795
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Intention tremor, Ataxia OMIM:190200
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... OMIM:618824
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Frontotemporal cerebral atrophy, Inappropriate behavior, Fasciculations, As... ORPHA:275864
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Astrocytosis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Dyst... ORPHA:225154
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Postural tremor, Chorea, Parkinsonism, Cerebellar calcifications, Athetosis, Thalami... OMIM:615483
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr... OMIM:618317
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Seizure, Postnatal growth retardation, Intrauterine growth retardation, Hypertonia OMIM:614023
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... ORPHA:100070
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Hemiparesi... OMIM:617542
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Global brain atrophy, Central nervous system degeneration, Seizure... ORPHA:282166
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Spasticity, Decreased thalamic volume, Hypoplasia of the brainstem, Clonus, Hypertonia OMIM:613668
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Hypopigmentation of the skin, Seizure, Premature graying o... ORPHA:33445
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Stxbp1-Related Encephalopathy
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... ORPHA:599373
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Seizure, Incoordination, Gait ataxia, Aggressive behavior OMIM:618808
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Palatal tremor, Resting tremor, Chorea, Leg d... ORPHA:157846
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Decreased thalamic volume, Spastic tetraplegia OMIM:618646
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ... OMIM:615924
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brai... ORPHA:467166
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Focal impaired awareness seizure, Hemiparesis OMIM:607341
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Ataxia, Abnormal thalamic MRI signal int... ORPHA:363717
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Agenesis of corpus callosum, Babinski sign, Lower limb spasticity... ORPHA:401820
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Focal T2 hyperintense thalamic lesion, Torticollis, Dystonia, Intention tremor OMIM:613724
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Difficulty walk... ORPHA:330050
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Hypopigmentation of hair, Partial albinism ORPHA:90023
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Growth delay, Athetosis OMIM:257800
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Supranuclear Palsy, Progressive, 1
Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait imbalance, Limb dystonia, Axial ... OMIM:601104
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Seizure, Frontal upsweep of hair, Tremor, Aggressive behav... OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis, Abnormal thalamus morphology, Oromandibular dystonia ORPHA:397725
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... OMIM:615400
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Decreased thalamic volume, Hypoplasia of the brainstem OMIM:619072
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Diaminopentanuria
Neurodegeneration, Spasticity, Seizure, Ataxia OMIM:222350
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Small nail, Seizure, Elbow flexion contracture, Tremor, Aggressive behavior, Hy... OMIM:619470
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Griscelli Syndrome, Type 2
Silver-gray hair, Spasticity, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation ... OMIM:607624
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainste... ORPHA:370959
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdi... ORPHA:254881
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, G... OMIM:618090
Dystonia 11, Myoclonic
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors OMIM:159900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins... OMIM:300423
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia, Generali... OMIM:610951
Spinocerebellar Ataxia Type 2
Spinal cord posterior columns myelin loss, Fasciculations, Abnormal substantia nigra morphology, ... ORPHA:98756
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Spinocerebellar Ataxia 23
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Tremor, Bab... OMIM:610245
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Bruxism, Tr... OMIM:617435
Developmental And Epileptic Encephalopathy 97
Seizure, Inability to walk, Epileptic spasm, Tremor, Stereotypical hand wringing OMIM:619561
Cach Syndrome
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, Limb ata... ORPHA:135
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... ORPHA:521406
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Generalized lipodys... ORPHA:363400
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Spasticity, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation ... OMIM:256710
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... OMIM:616421
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Familial Acute Necrotizing Encephalopathy
Spasticity, Abnormal thalamus morphology, Abnormal brainstem morphology, Rigidity, Hypertonia, Sp... ORPHA:88619
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Aplasia/... ORPHA:79262
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Dysplastic corpus callosum, Partial agenesis of the ... OMIM:604213
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Generalized myoclo... ORPHA:382
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles, Seizure, Spastic tetraparesis, Myoclonus, Abn... OMIM:607822
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Seizure, Abnormal fear-induced behavior, Neurodegeneration, Postnatal gro... ORPHA:309246
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Abnormality of retinal pi... ORPHA:48818
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Japanese Encephalitis
Abnormal midbrain morphology, Pill-rolling tremor, Abnormal thalamus morphology, Abnormal substan... ORPHA:79139
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Babinski sign, Apraxia, Myoclonus OMIM:618193
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysme... OMIM:607136
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait ataxia, Intention... OMIM:610185
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T... OMIM:614018
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Spasticity, Lateral ventricle dilatation, Abnormal thalamus morphol... ORPHA:300570
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem ... OMIM:619028
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb myoclonus, Inabilit... ORPHA:3095
Dravet Syndrome
Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... ORPHA:33069
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Tremor, Premature graying of hair ORPHA:66633
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity OMIM:619057
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... OMIM:213200
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Gait ataxia, T2 hypointense thalamus, Clumsiness, Ataxia, Frequent falls, Spa... ORPHA:1947
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz... OMIM:617106
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Bradykinesia, Neurodegeneration, Rigidity, Gait disturbance, M... OMIM:615643
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegeneration, Dysmetria... OMIM:612319
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Seizure, Hemiplegia, Paraplegia, Tremor, A... ORPHA:79254
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Tremor, Degeneration of the lateral corticospinal tracts, Babinski s... OMIM:600363
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Inappropriate lau... ORPHA:411515
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Sh... OMIM:617836
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Astrocytosis, Seizure, Inability to walk OMIM:611087
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Seizure, Cerebral atrophy, Neurodegenera... OMIM:610217
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Dysmetria, Tremor, Lower limb spasticity,... OMIM:617916
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Limb dystonia, Gait ataxia, Parkinsonism, Craniofaci... ORPHA:71517
Hsd10 Disease
Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Postnatal growth retardation, Myoc... ORPHA:391417
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Pigmentary retinopathy, Cerebellar atrophy, Focal T2 hyperintense thalam... ORPHA:79264
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia 7
Spasticity, Pigmentary retinopathy, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal moto... OMIM:164500
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance ORPHA:276435
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia, Osteoporosis ORPHA:2169
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera... OMIM:618093
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Clumsiness, Babins... ORPHA:284324
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ... OMIM:300894
Leigh Syndrome
Spasticity, Agenesis of corpus callosum, Ataxia, Choreoathetosis, Involuntary movements, Alopecia... ORPHA:506
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Seizure, Inability to walk, Bruxism, Tremor, Paroxysmal burs... OMIM:618718
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Tremor, Rigidity, Dystonia, A... ORPHA:329284
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Acute Disseminated Encephalomyelitis
Involuntary movements, Myelitis, Abnormal cerebellum morphology, Hemiparesis, Abnormal pyramidal ... ORPHA:83597
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Polyphagia, Delayed puberty, Hypoglycemic seizures, Red hair, Growt... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Polyphagia, Delayed puberty, Hypoglycemic seizures, Red hair, Growt... ORPHA:71526
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormality of the frontal hairline, Abnormal thalamus morphology ORPHA:557003
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis OMIM:612562
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Neurofibrillary tangles, Hippocampal atrophy, Disinhibition, Abnormali... OMIM:608907
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Abnormal fear-induced behavior, Tremor... ORPHA:3077
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... OMIM:620158
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Seizure, Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramida... OMIM:614831
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Dysphagi... OMIM:159950
Tay-Sachs Disease
Cerebellar atrophy, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fasciculations, Myo... ORPHA:845
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Atrophy/Degeneration involving the spinal cord, Gait ataxia, Myoclonus, Abnormal cerebellar corte... ORPHA:70595
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased... OMIM:616943
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... OMIM:619911
Ataxia-Telangiectasia
Spasticity, Seizure, Premature graying of hair, Tremor, Gait disturbance, Delayed puberty, Multip... ORPHA:100
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Leukodystrophy, Premature graying of hair, White forelock, Heterochro... OMIM:277580
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Seizure, Cerebral atrophy, Difficulty walking, Abnormality of ... ORPHA:442835
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles, Seizure, Myoclonus, Disinhibition, Parkinsoni... ORPHA:1020
Griscelli Syndrome Type 1
Iris hypopigmentation, Seizure, Premature graying of hair, Partial albinism, White hair, Hyperton... ORPHA:79476
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Growth delay OMIM:278780
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Dysmetria, T... OMIM:607694
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Pigmentary retinopathy, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, ... OMIM:614307
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Disinhibition, Polyphagia, Apraxia, Parkinson... OMIM:607485
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Phenylketonuria
Hypopigmentation of the skin, Seizure, Tremor, Lower limb spasticity, Ataxia ORPHA:716
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Fusion of the left and right thalami, ... OMIM:619306
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Myoclonus, Gait ataxia, Tre... OMIM:137440
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Focal myoclonic seizure, Cerebral atrophy, Tetr... OMIM:203700
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Gait ataxia, Congenital diap... ORPHA:438134
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Behr Syndrome
Cerebellar atrophy, Frequent falls, Cerebellar vermis atrophy, Hamstring contractures, Dysmetria,... OMIM:210000
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stat... OMIM:612438
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, Antalgic gait, Tremor, Aggressiv... OMIM:620546
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Global brain atrophy, Seizure, Generalized dystonia, Inabil... OMIM:312080
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Iris hypopigmentation, White hair, Ocular albinism, Abnormal brainstem morphology, Aplasi... ORPHA:2720
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Short stature, Hypopigmentation ... ORPHA:177910
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Rhombencephalosynapsis
Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Abnormal dentate nucl... ORPHA:59315
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Fasciculations, Neurodege... OMIM:615491
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tre... OMIM:302800
Phenylketonuria
Fair hair, Seizure, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:261600
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... ORPHA:199351
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
4H Leukodystrophy
Cerebellar atrophy, Seizure, Upper motor neuron dysfunction, Dysmetria, Tremor, Abnormality of ex... ORPHA:289494
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Cerebral atrophy, Bruxism, Tremor, Self-mutilation, Dysphagia, Ataxia, Dystonia, Growth ... OMIM:619422
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Seizure, Oral-pharyngeal dysphagia, Postnatal growth retardation, Long eyelashes, Thick eyebrow, ... ORPHA:480907
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Spastic paraplegia, Spastic gait, Seizure, Multiple lentigines, Vitiligo, Short... ORPHA:101003
Spinocerebellar Ataxia 2
Spasticity, Cerebellar atrophy, Spinocerebellar tract degeneration, Fasciculations, Dilated fourt... OMIM:183090
Glut1 Deficiency Syndrome 2
Seizure, Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys... ORPHA:101070
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait OMIM:616795
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramida... ORPHA:96
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Brain atrophy, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure ... OMIM:619092
Combined Oxidative Phosphorylation Defect Type 7
Spastic paraparesis, Abnormal pyramidal sign, Abnormal brainstem MRI signal intensity, Ataxia, Ab... ORPHA:254930
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Astrocytosis, Action tremor, Rigidity, Dystonia, Gait di... ORPHA:309854
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Inappropriate lau... ORPHA:98794
New-Onset Refractory Status Epilepticus
Cerebellar edema, Abnormal thalamic MRI signal intensity ORPHA:363558
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Cerebral atrophy, Epilept... OMIM:612164
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Seizure, Cerebral atrophy, Difficulty walking,... ORPHA:137898
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... ORPHA:848
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Myoclonic-Astatic Epilepsy
Ataxia, Frontal balding, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset sei... ORPHA:1942
Developmental And Epileptic Encephalopathy 46
Seizure, Cerebral atrophy, Generalized-onset seizure, Tremor, Limb hypertonia, Dysphagia OMIM:617162
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Inappropriate lau... ORPHA:411511
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Athetosis, Seizure, Cerebral atrophy, Intrauterine growth retardation, Dysmet... OMIM:617710
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Abnormal thalamus morphology, Low anterior hairline ORPHA:404440
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Generalized dystonia, Seizure, Inability to walk, Chorea, Ataxia, Hypopigmentation of... ORPHA:70472
Sandhoff Disease, Infantile Form
Spasticity, Myoclonus, Abnormal thalamic MRI signal intensity, Exaggerated startle response ORPHA:309155
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Limb dy... OMIM:616840
Cockayne Syndrome Type 3
Dry hair, Seizure, Premature graying of hair, Difficulty walking, Astrocytosis, Mild postnatal gr... ORPHA:90324
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Gait imbalance, B... ORPHA:98795
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Ocul... ORPHA:529665
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, ... ORPHA:811
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Bradykinesia, B... OMIM:300055
Adrenoleukodystrophy
Spastic paraplegia, Alopecia, Seizure, Incoordination, Neurodegeneration, Limb ataxia, Attention ... OMIM:300100
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Spasticity, Cerebellar atrophy, Abnormal thalamic MRI signal intensity ORPHA:485421
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Tremor, Ataxia ORPHA:99014
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Astrocytosis, Pontocerebella... ORPHA:258
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Gliosis, Bilateral to... ORPHA:457240
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosi... OMIM:256600
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Dysphagia, Tremor, Ataxia OMIM:618637
Vogt-Koyanagi-Harada Disease