Gene Summary

thyroid peroxidase

IMPC Phenotype Summary

Not Significant
Not tested


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 forelimb morphology Tpoem1(IMPC)H HOM Early adult 1.22×10-09
abnormal startle reflex Tpoem1(IMPC)H HOM Early adult 2.88×10-06
preweaning lethality, incomplete penetrance Tpoem1(IMPC)H HOM   Early adult 0.00
abnormal hindlimb morphology Tpoem1(IMPC)H HOM Early adult 4.51×10-13
decreased exploration in new environment Tpoem1(IMPC)H HOM   Early adult 1.30×10-06
increased mean platelet volume Tpoem1(IMPC)H HET Early adult 6.66×10-08
impaired righting response Tpoem1(IMPC)H HOM Early adult 1.23×10-07
limb grasping Tpoem1(IMPC)H HOM Early adult 5.30×10-06
abnormal coat/ hair morphology Tpoem1(IMPC)H HOM Early adult 1.22×10-09
abnormal gait Tpoem1(IMPC)H HOM Early adult 9.62×10-09
tremors Tpoem1(IMPC)H HOM Early adult 1.23×10-05
decreased circulating glucose level Tpoem1(IMPC)H HET   Early adult 2.74×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Tpo 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 Tpo by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Pendred Syndrome
Compensated hypothyroidism, Goiter, Cochlear malformation, Vestibular dysfunction, Thyroid carcin... OMIM:274600
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Hearing impairment, Epiphyseal stippling, Goiter OMIM:274300
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Fetal Iodine Syndrome
Hypothyroidism, Sensorineural hearing impairment ORPHA:1910
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Goiter, Hypothyroidism, Enlarged vestibular aqueduct, Sensori... ORPHA:705
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... ORPHA:85292
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Steppage gait, Hand tremor OMIM:300905
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficiency OMIM:262700
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Progressive hearing impairment OMIM:616113
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign OMIM:300660
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs, Multinodul... OMIM:138790
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Anxiety, Myoclonus, Upper motor neuron dysfunctio... ORPHA:401901
Cerebellar Ataxia And Albinism
Head tremor, Albinism, Ataxia OMIM:258300
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:79262
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, Ab... ORPHA:95716
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Memory impairment, Rigidity ORPHA:401849
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Papi... ORPHA:319487
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Small for gestational age, Primary gon... OMIM:210740
Wolfram-Like Syndrome
Male hypogonadism, Hypothyroidism, Abnormality of the pinna, Delayed puberty, Optic atrophy, Diab... ORPHA:411590
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Retinohepatoendocrinologic Syndrome
Hypothyroidism, Maturity-onset diabetes of the young, Optic disc pallor OMIM:268040
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Cognitive impairment, Rigi... OMIM:615528
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Myocl... OMIM:615362
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Blepharochalasis And Double Lip
Goiter OMIM:109900
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Rigidity, Frequent falls, Violent behavior, Chorea, Gait disturbance... ORPHA:216873
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Delayed proximal femoral epiphys... ORPHA:90673
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Weight loss, Proptosis OMIM:275000
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinoma, Abnor... ORPHA:97290
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Distal sensory impairment, Fasciculations, Hammertoe OMIM:615048
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Tremor OMIM:231950
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Hypohidrosis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Cognitive impair... OMIM:615768
Ascher Syndrome
Hypothyroidism, Goiter, Deviation of finger ORPHA:1253
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Dementia, Speech apraxia, Gait distur... ORPHA:454887
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity... ORPHA:306692
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Writer's cramp, Torticollis, Anxiety, Myoclonus OMIM:159900
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad thumb, Hypothyroidism, Low-set ears, Posteriorly rotated ears, Sensorineural hearing impair... OMIM:617763
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Proptosis, Activating thyroid-stimulating hormone receptor defect, Small for... ORPHA:424
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Progressive Myoclonic Epilepsy Type 1
Dementia, Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Dementia, Ataxia, Spasticity OMIM:615889
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Elevated h... ORPHA:525731
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Anxiety OMIM:141500
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
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Proptosis, Activating thyroid-stimulating hormone receptor defect, Thyrotoxi... ORPHA:99819
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Hearing... ORPHA:99886
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Reduced TSH response to thyrotrophin-releasing hormone stimulatio... OMIM:618573
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Involuntary movements, Rigidity, Parkinsonism with favorable respo... ORPHA:240103
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Aggressive behavior, Rigidity, Apraxia, Frontotemporal dementia, Br... OMIM:612953
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Mental... OMIM:615924
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Recurrent otitis media, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Finger syndactyly, Low-set, posteriorly rotated ears, Hypothyroidism, Sh... ORPHA:2994
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Chorea, Action tremor, Bradykinesia, Irritability, Anxiety, Rigidity OMIM:606438
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Head tremor, Action tremor, Progressive cerebellar ... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Aggressive behavior, Dementia, Impaired vibratory sensation, Imp... OMIM:617225
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Cognitive impairment, Broad... OMIM:117360
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Weight loss, Primary hyperparathyroidism, Abnormal liver p... ORPHA:1332
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dystonia, Hypertonia, Irritability, Myoclonus, Chor... OMIM:261630
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Mental Retardation, Autosomal Recessive 48
Inability to walk, Self-mutilation, Kinetic tremor, Aggressive behavior, Small hand, Waddling gait OMIM:616269
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Apat... ORPHA:240085
Spinocerebellar Ataxia, X-Linked 4
Dementia, Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Urocanase Deficiency
Tremor, Aggressive behavior, Ataxia, Fair hair OMIM:276880
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Weight loss, Nodular goiter, Lymphadenopathy ORPHA:142
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Macrotia, Congenital hypothyroidism, Calcaneovalgus deformity, Thyroid hypoplasia, Bilateral sens... ORPHA:521445
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Spastic gait, Lower limb spasticity, Babinski sign, Progressive ... ORPHA:401820
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Dystonia, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait, Hammertoe OMIM:618387
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test OMIM:616784
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Dysmetria, Babin... OMIM:270500
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Hypothyroidism, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2491
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Congenital hypothyroidism ORPHA:96183
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Parkinsonism, Ba... OMIM:618093
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Difficulty walking, Limb atax... ORPHA:98764
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus,... OMIM:618598
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Rigidity, Chorea, Gait disturbance, Abnorma... OMIM:213600
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Delayed proximal femoral ep... ORPHA:90674
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Thyroid agenesis, Hypothyroidism ORPHA:95713
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Self-injurious behavior, Low frustration tolerance OMIM:300615
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Rigidity, Dementia, Speech apraxia, Abnormal pyramidal ... ORPHA:99750
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Aggressive behavior, Dementia, Abnormality of extrapyramidal motor function, Sp... OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Hammertoe, Mental de... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Cognitive impairment, Tremor, Distal sensory impairment OMIM:616668
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Gne Myopathy
Hypothyroidism, Facial palsy ORPHA:602
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Sensorin... ORPHA:226307
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hypothyroidism ORPHA:2118
Congenital Hypothyroidism
Goiter, Abnormality of epiphysis morphology, Hypothyroidism, Abnormality of the thyroid gland, He... ORPHA:442
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Emotional lability, Torticollis... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Talipes equinovarus, Frequent falls, Spas... OMIM:616719
Roussy-Lévy Syndrome
Postural tremor, Genu valgum, Gait ataxia, Clumsiness, Impaired vibratory sensation, Difficulty w... ORPHA:3115
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Dystonia, Choreoathetosis, Hypertonia, Bradykinesia... OMIM:261640
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Neoplasm of the adrenal cortex, Para... ORPHA:163634
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Hearing impairment, Thyroid ... OMIM:615108
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Abnormality of the pinna, Congenital hypothyroidism, Large fleshy ears, Clinodactyly of the 5th f... ORPHA:352530
Dystonia 16
Postural tremor, Involuntary movements, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, ... OMIM:612067
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Abnormality of the distal phalanx of the thumb, Dystonia, Gait ataxia, Truncal ataxia, Clumsiness... ORPHA:453521
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Aggressive behavior, Resting tremor, ... ORPHA:3077
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Abnormality of the antihelix, Cryptorchidism, Camptodactyly of finger, Hypothyr... ORPHA:3047
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis... OMIM:612716
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Neoplasm... ORPHA:457059
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Li-Campeau Syndrome
Low-set ears, Hypothyroidism, Cryptorchidism, Patellar hypoplasia OMIM:619189
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Dystonia, Gait ataxia, Apraxia, Impaired pain sen... ORPHA:3095
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cognitive impairment OMIM:614947
Seckel Syndrome 7
Hip dysplasia, Central hypothyroidism, Clinodactyly, Abnormality of the carpal bones, Microtia OMIM:614851
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, EEG with burst suppression, Hypsarrhythmia OMIM:301058
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Choreoathetosis, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia,... OMIM:606159
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Hearing impairment, Thyroid ... OMIM:615109
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dementia, Chorea, Poor fine motor coordination, Ataxia, Unsteady ga... ORPHA:79263
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Spasticity OMIM:300983
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Hyperglycemia, Hyperinsulinemia OMIM:616214
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, I... OMIM:614450
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Sensorineural hearing impairment OMIM:617713
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dementia, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent ... OMIM:159950
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Aggressive behavior, Spastic paraparesis, Incoordi... OMIM:615157
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Congenital hip dislocation, Conductive hearing impairment, Cupped ear,... OMIM:113650
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hip dysplasia, Congenital hypothyroidism, Stenosis of the external auditory canal, Short foot, De... OMIM:601427
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Gabriele-De Vries Syndrome
Long fingers, Tremor, Waddling gait, Dystonia OMIM:617557
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epiphyseal stippling, Adrenal hypoplasia, Congenital hip dislocation, Hypoplastic pelvis, Hypopla... OMIM:308050
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety... ORPHA:3198
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Progressive gait a... ORPHA:284324
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Neuronal Intranuclear Inclusion Disease
Tremor, Dementia, Gait disturbance, Ataxia, Somatic sensory dysfunction, Cognitive impairment, Ri... OMIM:603472
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Diabetes mellitus, Cochlear degeneration OMIM:172500
Allan-Herndon-Dudley Syndrome
Prominent antihelix, Macrotia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone c... OMIM:300523
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism ORPHA:752
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypoplastic helices, Hypothyroidism, Recurrent otitis media, Clinodactyly, EEG abnormality, Abnor... ORPHA:391372
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypothyroidism, ... OMIM:612885
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiatrophy, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Aggressive behavior, Dementia, Spastic paraparesis, Bradykinesia, Parkinsonism,... ORPHA:329284
Caribbean Parkinsonism
Dystonia, Apraxia, Rigidity, Dementia, Progressive gait ataxia, Action tremor, Bradykinesia, Weak... ORPHA:97355
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Akinesia, Dementia, Parkinsonism with ... OMIM:606693
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, An... OMIM:619279
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Hirsutism, Small hand, Dysmetria, Short foot, Short palm OMIM:610185
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia, Proptosis OMIM:606893
Ohdo Syndrome, Sbbys Variant
Posteriorly rotated ears, Hypothyroidism, Cryptorchidism, Low-set ears OMIM:603736
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Lethargy, Dystonia, Choreoathetosis, Hyperkinetic m... OMIM:233910
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp... ORPHA:3258
Tetralogy Of Fallot
Cryptorchidism, Proptosis ORPHA:3303
Galloway-Mowat Syndrome 6
Hypothyroidism, Clinodactyly of the 5th finger, Decreased response to growth hormone stimuation test OMIM:618347
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Talipes cavus equinovarus, Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar atax... ORPHA:139485
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle ... ORPHA:309246
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Hypothyroidism ORPHA:1882
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Pituitary Hormone Deficiency, Combined, 1
Hypothyroidism OMIM:613038
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Abnormality of thyroid physiology, Reduced radioactive iodine upt... ORPHA:95715
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Involuntary movements, Dementia, Choreoathetosis... ORPHA:101
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Delayed puberty,... ORPHA:95496
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Rigidity, Spasti... ORPHA:33445
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Action tremor, Upper limb postural tremor, Distal sensory impairment, Hammertoe OMIM:180800
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Atresia of the external auditory canal, Mesoaxial foot poly... OMIM:146510
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Congenital hypo... OMIM:614613
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Parkinson-Dementia Syndrome
Tremor, Dementia, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Macrotia, Hypothyroidism, Down-sloping shoulders, Delayed puberty, Hearing impair... OMIM:616817
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Dystonia, Truncal ataxia, Gait ataxia, Dementia, Choreoathetosis, Limb ataxia, Oculomotor... OMIM:208920
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Hearing impairment, Ovarian ... OMIM:158350
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Dementia, Poor fine motor coordination, Resting... OMIM:300623
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Polydactyly, Hypothyroidism, Low-set ears, Syndactyly, Clinodactyly of the 5th fi... ORPHA:397590
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, A... ORPHA:228360
Trisomy X
Tremor, Anxiety, Cognitive impairment, Clinodactyly of the 5th finger, Attention deficit hyperact... ORPHA:3375
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Dementia, Apraxia, Limb ataxia, Bradyki... OMIM:137440
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Dystonia, Incoordination, Oculogyric crisis, Parkinsonism, Cognitive impairm... OMIM:618049
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperthy... OMIM:174800
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Camptodactyly, Low-set ears, Talipes equinovarus OMIM:608104
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Progressive psychomotor... ORPHA:1170
Isolated Brachycephaly
Hypertelorism, Proptosis ORPHA:35099
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Exocrine ... ORPHA:456312
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Sensorineural hearing impairment, Optic atrophy, Diabetes ins... OMIM:222300
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Akinetic mutism, Dementia, Spastic dysarthria, Apathy, Spastic h... ORPHA:282166
Monosomy 18P
Abnormality of the antihelix, Macrotia, Hypothyroidism, Protruding ear, Brachydactyly ORPHA:1598
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Conge... ORPHA:209905
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Aggressive behavior, Akinesia, Abnorma... OMIM:607454
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Classic Phenylketonuria
Hemiplegia, Tremor, Hypopigmentation of hair, Self-injurious behavior, Hypertonia, Motor deterior... ORPHA:79254
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Tetralogy Of Fallot
Proptosis OMIM:187500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Impaired distal proprioception, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty wa... ORPHA:137898
Filippi Syndrome
Cryptorchidism, Decreased body weight, Proptosis OMIM:272440
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Cryptorchidism, Breast hypoplasia, Hypothyroidism, Abnormal 5th finge... ORPHA:1439
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Optic atrophy OMIM:251900
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Hypertonia, Chorea, Abnormal pyramidal sign, Spastic tetraparesis, Pa... OMIM:272750
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Limb hypertonia, Anxiety OMIM:606703
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism OMIM:275100
Pseudohypoparathyroidism, Type Ia
Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Short finger, Short metacarpal, Eleva... OMIM:103580
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Adrenal insufficiency, Sensorineural hearing impairment, Hypogona... OMIM:617575
Down Syndrome
Conductive hearing impairment, Hypothyroidism, Short palm, Hypoplastic iliac wing, Aganglionic me... OMIM:190685
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Bradykinesia, Ataxia, Rigidity OMIM:617836
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Dahlberg-Borer-Newcomer Syndrome
Hypohidrosis, Hypoparathyroidism, Hypothyroidism, Short distal phalanx of finger, Brachydactyly ORPHA:1563
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Axial dystonia, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid horm... OMIM:612462
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Male hypogonadism, Primary adrenal insufficiency... OMIM:240300
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive neurologic deterioration, Dementia, Progressive gait ataxia, Spastic... ORPHA:447757
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Frequent falls, Difficulty walking, Paraparesis, Gait disturbance, Toe wa... OMIM:302800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Acute hepatic failure, Failure to thrive in infancy, Neut... ORPHA:228426
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Aganglionic megacolon, Thyroid C cell hyp... OMIM:171400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Macrotia, Hypothyroidism, Down-sloping shoulders, Delayed puberty, Sensorineural hearing impairme... ORPHA:391408
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Dysmetria, Spasticity OMIM:617810
Sneddon Syndrome
Tremor, Dementia, Chorea, Hemiparesis, Memory impairment, Mental deterioration ORPHA:820
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Hypertelorism, Proptosis, Thromboc... OMIM:170100
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Dementia, Blepharospasm, Ataxia, Myoclonus, Cognitive impairment OMIM:607876
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Clinodactyly, Syndactyly, My... OMIM:619092
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Abnormal motor evoked potentials, Hearing impairment, Type I diabetes mellitus, P... ORPHA:412057
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tet... ORPHA:363400
Timothy Syndrome
Cutaneous syndactyly, Hypothyroidism, Syndactyly OMIM:601005
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Genu varum, Me... ORPHA:2479
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Talipes equinovarus, Tremor ORPHA:212
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Broad-based gait ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor ORPHA:79234
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Rigidity ORPHA:391417
Perry Syndrome
Tremor, Dementia, Abnormality of extrapyramidal motor function, Apathy, Parkinsonism ORPHA:178509
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Adrenal hypoplasia, Low-set, posteriorly rotated ears... ORPHA:2166
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Low-set ears, Posteriorly rotated ears, Protruding ear, Clinodactyly of the 5th f... OMIM:618829
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Conductive hearing impairment, Hypothyroidism, Short 1st metacarpal, Op... OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Hypothyroidism, Bilateral camptodactyly, Delayed puberty, Talipes equinovarus, Lo... OMIM:619234
Treacher-Collins Syndrome
Cryptorchidism, Narrow internal auditory canal, Conductive hearing impairment, Abnormality of the... ORPHA:861
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Arachnodactyly, Hypopituitarism OMIM:619013
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 4th metacarpal, Short 3rd toe, Short 3rd metacarpal, Hypothyroidism, Split hand, Short 5th ... OMIM:618569
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis OMIM:601420
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair ORPHA:66633