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Gene: Tpo MGI:98813

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Gene Summary

Name:
thyroid peroxidase
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased exploration in new environment Tpoem1(IMPC)H HOM Early adult 1.27×10-06
increased mean platelet volume Tpoem1(IMPC)H HET Early adult 4.54×10-07
abnormal forelimb morphology Tpoem1(IMPC)H HOM Early adult 1.08×10-09
limb grasping Tpoem1(IMPC)H HOM Early adult 4.76×10-06
abnormal coat/ hair morphology Tpoem1(IMPC)H HOM Early adult 1.08×10-09
increased circulating cholesterol level Tpoem1(IMPC)H HOM Early adult 0.00
improved glucose tolerance Tpoem1(IMPC)H HET Early adult 7.19×10-05
increased circulating creatinine level Tpoem1(IMPC)H HOM Early adult 5.83×10-11
abnormal startle reflex Tpoem1(IMPC)H HOM Early adult 2.55×10-06
tremors Tpoem1(IMPC)H HOM Early adult 1.09×10-05
decreased circulating glucose level Tpoem1(IMPC)H HET   Early adult 2.90×10-05
increased circulating iron level Tpoem1(IMPC)H HOM Early adult 0.00
preweaning lethality, incomplete penetrance Tpoem1(IMPC)H HOM   Early adult 0.00
increased circulating aspartate transaminase level Tpoem1(IMPC)H HOM Early adult 1.73×10-07
abnormal hindlimb morphology Tpoem1(IMPC)H HOM Early adult 3.85×10-13
impaired righting response Tpoem1(IMPC)H HOM Early adult 1.07×10-07
abnormal gait Tpoem1(IMPC)H HOM Early adult 7.02×10-09
increased circulating alkaline phosphatase level Tpoem1(IMPC)H HOM Early adult 9.48×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated... ORPHA:95716

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... OMIM:620198
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... OMIM:609698
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Fetal Iodine Syndrome
Hypothyroidism, Sensorineural hearing impairment ORPHA:1910
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Epiph... OMIM:274300
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Congenital sensorineural hearing impairment, Central diabetes i... ORPHA:411590
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor, Elevated circulating creat... OMIM:615048
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... ORPHA:309169
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Mildly elevated creatine kinase, Tremor OMIM:614369
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter ORPHA:2091
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula... OMIM:208920
Graves Disease
Graves disease, Proptosis, Goiter, Increased circulating free T3, Weight loss, Increased circulat... OMIM:275000
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... OMIM:619491
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonadal insufficiency, Small f... OMIM:210740
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated... ORPHA:95716
Saccharopinuria
Mental deterioration, Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Dista... ORPHA:3124
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De... ORPHA:90673
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pain insensitivity, Impaired vibration sensation in the lower limbs, Steppage ga... ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Blepharochalasis And Double Lip
Goiter OMIM:109900
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... ORPHA:85292
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Ascher Syndrome
Hypothyroidism, Deviation of finger, Goiter ORPHA:1253
Glutaric Aciduria Iii
Hyperthyroidism, Reduced peroxisomal glutaryl-CoA oxidase activity, Failure to thrive, Goiter OMIM:231690
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Athetosis, Bradykinesia, Chorea, Limb dysmet... OMIM:213600
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase co... OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Impaired vibratory sensation, Distal sensory impairment, Steppage gait, Hypercho... OMIM:607250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... ORPHA:401901
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hyperthyroidism, Nonautoimmune
Small for gestational age, Proptosis, Thyroid hyperplasia, Goiter, Increased circulating free T3,... OMIM:609152
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Somatic sensory dysfunction, Head tremor, Postural tremor, Gait imbalance, Eleva... ORPHA:64753
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis OMIM:615542
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Impaired distal vibration sensation, Incoordination, Bradykinesia, Po... OMIM:128230
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Proptosis, Thyroid hyperplasia, Goiter, W... ORPHA:424
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Rigidity, Ataxia OMIM:617018
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Impaired vibratory sensation, Oculomotor apraxia, Hypercholesterolemia, Cognitiv... OMIM:616267
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal... OMIM:615924
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Propt... ORPHA:525731
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Proptosis, Thyroid hyperplasia, Goiter, W... ORPHA:99819
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Distal sensory impairment, Tremor, Elevated circulating creatine kinase concentratio... OMIM:618387
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Ataxia With Vitamin E Deficiency
Short term memory impairment, Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Posit... OMIM:277460
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri... OMIM:261630
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Transient neonatal diabetes mellitus, H... ORPHA:99886
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Male hypogonadism, Hypothyroidism OMIM:618625
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... ORPHA:216873
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Anaplastic Thyroid Carcinoma
Goiter, Weight loss, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carcinoma ORPHA:142
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... ORPHA:521406
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly ... ORPHA:2994
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Gait ataxia, Emotional lability, Tremor, Myoclonus, ... OMIM:615362
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... ORPHA:1332
Phenylketonuria
Depression, Short attention span, Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylala... ORPHA:716
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis OMIM:241850
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory ... ORPHA:352675
Allan-Herndon-Dudley Syndrome
Prominent antihelix, Elevated circulating thyroid-stimulating hormone concentration, Stahl ear, H... OMIM:300523
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Long fingers, Bilateral sensorineural hearing impairment, Thyroid hypo... ORPHA:521445
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Chromosome 1P35 Deletion Syndrome
Hearing impairment, Congenital hypothyroidism, Anterior creases of earlobe, Cryptorchidism, Senso... OMIM:617930
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Congenital hypothyroidism ORPHA:96183
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus... OMIM:260300
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... OMIM:615768
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Short humerus, Hypothyroidism, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial ... ORPHA:2491
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsoni... ORPHA:314632
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, ... ORPHA:101109
Morgagni-Stewart-Morel Syndrome
Memory impairment, Depression, Action tremor, Hyperuricemia, Hirsutism, Hypercholesterolemia, Cog... ORPHA:77296
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism OMIM:616784
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp OMIM:159900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Corticobasal Syndrome
Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb myoclonus, Bradykines... ORPHA:454887
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Incr... ORPHA:90674
Bangstad Syndrome
Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ... ORPHA:1227
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Cryptorchidism, Hypogonadism ORPHA:3363
Li-Campeau Syndrome
Low-set ears, Hypothyroidism, Cryptorchidism, Patellar hypoplasia OMIM:619189
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Emotional lability, ... OMIM:606159
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Gne Myopathy
Hypothyroidism, Facial palsy ORPHA:602
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... ORPHA:226307
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Gait di... ORPHA:363710
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... OMIM:617013
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Axial dystonia, Dysmetria, Parkinsonism, Dementia, Dysdia... OMIM:604326
Glut1 Deficiency Syndrome 2
Tremor, Reduced haptoglobin level, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... OMIM:159950
Cowden Syndrome 5
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro... OMIM:615108
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Hypothyroidism, Hypsarrhythmia OMIM:301058
Intellectual Developmental Disorder, Autosomal Recessive 48
Small hand, Inability to walk, Emotional lability, Tremor, Waddling gait OMIM:616269
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity OMIM:619851
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Distal Myopathy, Tateyama Type
Clumsiness, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment, Tremor ORPHA:79234
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... OMIM:617916
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
EEG abnormality, Hypothyroidism, Cryptorchidism OMIM:613970
Hawkinsinuria
Hypothyroidism ORPHA:2118
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Elevated circulating phytanic acid concentration, Increased phytanic acid... OMIM:614307
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Hand clenching, Memory impairment, Involuntary movements, Somatic sensory d... ORPHA:240103
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... OMIM:604290
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive imp... ORPHA:98763
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Hypothyroidism, Decreased thyroid-stimulating hormone level OMIM:275100
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Large fleshy ears, Congenital hypothyroidism, Clinodactyly of the 5th finger, Abnormal pinna morp... ORPHA:352530
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Tremor, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, B... OMIM:611302
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Branchiootorenal Syndrome 1
Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductive hearing imp... OMIM:113650
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... ORPHA:210128
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Cowden Syndrome 6
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro... OMIM:615109
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Tremor, Irritability, Dysmetria, Babinski ... OMIM:618093
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Spastic Paraplegia 78, Autosomal Recessive
Mental deterioration, Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Ga... OMIM:617225
Seckel Syndrome 7
Central hypothyroidism, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of th... OMIM:614851
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Camptodactyly of finger, Cryptorchidism, Abnormal antihelix morphology, Thyroid age... ORPHA:3047
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... ORPHA:101110
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin conce... ORPHA:562
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc... OMIM:619405
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Aplasia ... OMIM:308050
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Falls, Bradykinesia, Tremor, Rigidity, Parki... ORPHA:240085
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T... ORPHA:90117
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:616710
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Oculo... OMIM:617145
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Foxp1 Syndrome
Hypoplastic helices, Clinodactyly, Prominent fingertip pads, Recurrent otitis media, Hypothyroidi... ORPHA:391372
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Tremor, Irritability, Rigidity, Parkinsonism, Hyperphenylalaninemia, Limb hypertoni... OMIM:261640
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Cystathioninuria
Talipes equinovarus, Cystathioninuria, Cystathioninemia, Tremor ORPHA:212
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait... OMIM:609260
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy... ORPHA:247585
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Bradykinesia, Rigidity, Loss of ambulation, Park... OMIM:615528
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased T3/T4 ratio, Congenital hip dislocation, Impaired sensitivit... OMIM:614450
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... OMIM:146510
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Spinocerebellar Ataxia With Epilepsy
Depression, Gait ataxia, Myoclonus, Tremor, Dysmetria, Hyperalaninemia, Progressive neurologic de... ORPHA:254881
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Dys... ORPHA:306669
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... ORPHA:209335
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Emotional lability, Gait ataxia, Craniofacial dystonia... ORPHA:71517
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Stenosis of the external auditory canal, C... OMIM:601427
Dystonia 28
Precocious puberty, Clinodactyly of the 5th finger, Hypothyroidism ORPHA:589618
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Small hand, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Hirsutism, Atax... OMIM:610185
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Huntington Disease-Like 2
Memory impairment, Depression, Bradykinesia, Chorea, Action tremor, Irritability, Rigidity, Demen... OMIM:606438
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Hypothyroidism, Elevat... OMIM:612885
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se... ORPHA:90646
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Sensorineural hearing impairment, Hypothyroidism, Short fourth m... OMIM:600430
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Focal dystonia, Bradykinesia, Postural tremo... OMIM:600116
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism ORPHA:752
Tetralogy Of Fallot
Proptosis, Cryptorchidism ORPHA:3303
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Increased total iron binding capacity, Bradykinesia, Tremor, Rigidity, Abnor... OMIM:613280
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperlipidemia, Distal sensory impairment, Gait disturbance, Tetrapl... OMIM:604484
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... ORPHA:3258
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia OMIM:605909
Atelis Syndrome 1
Hypothyroidism, Glue ear, Microtia OMIM:620184
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, C... ORPHA:2590
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,... ORPHA:95496
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Decreased thyroid-stim... ORPHA:95715
Aceruloplasminemia
Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc... ORPHA:48818
Cowden Syndrome 1
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyp... OMIM:158350
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Dysmetria, Tremor, Impaired tandem gait, Lower limb spasticity, ... OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Broad distal phalanx of finger, Broad thumb, Hearing impairment, Hypothyroidism, Br... OMIM:617763
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Congenital hypothyroidism, Cryptorchidism, Brachydactyly, Short metatarsal... OMIM:614613
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Unsteady gait, Cognitive impairment... ORPHA:79263
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Limb dystonia, Tremor, Bilateral coxa valga OMIM:620270
Spinocerebellar Ataxia 18
Dysmetria, Tremor, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, E... OMIM:614298
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Decreased motor nerve conduction velocity, Exocrine pancreatic insuff... ORPHA:456312
Vascular Malformation, Primary Intraosseous
Hypochromic anemia, Proptosis, Elevated circulating alkaline phosphatase concentration OMIM:606893
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Classic Phenylketonuria
Mental deterioration, Memory impairment, Depression, Hemiplegia, Paraplegia, Tremor, Attention de... ORPHA:79254
Cog4-Cdg
Irritability, Hypercholesterolemia, Limb hypertonia, Thick hair, Ataxia ORPHA:263501
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Focal dystonia, Falls, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Low-set ears, Ectrodactyly, Cryptorchidism, Polydactyly, Hypothyroidism, Clinod... ORPHA:397590
Spastic Tetraplegia And Axial Hypotonia, Progressive
Fasciculations, Overlapping toe, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb... OMIM:618598
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Tetraparesis,... ORPHA:363400
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hearing impairment, Cryptorchidism, Down-sloping shoulders, Sensorineural hearing impairment, Hyp... OMIM:616817
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter OMIM:616858
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Wolfram Syndrome 1
Optic atrophy, Limited mobility of proximal interphalangeal joint, Hearing impairment, Sensorineu... OMIM:222300
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Progressive hearing impairment, Decreased serum testosterone concentratio... ORPHA:453533
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Absent nipple, Bilateral conductive hearing impairment, Clinodactyly, Broad hallux,... OMIM:620186
Neuroferritinopathy
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... ORPHA:157846
Hsd10 Disease
Spastic paraparesis, Abnormal urinary acylglycine profile, Short attention span, Myoclonus, Tremo... ORPHA:391417
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... ORPHA:209905
Ohdo Syndrome, Sbbys Variant
Low-set ears, Hearing impairment, Long hallux, Long thumb, Cryptorchidism, Hypothyroidism, Poster... OMIM:603736
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Protruding ear, Hypothyroidism, Clinodactyly of the 5th finger, Microtia, Posterior... OMIM:618829
Prolidase Deficiency
Proptosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Sple... OMIM:170100
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Congenital Disorder Of Glycosylation, Type Ii
Low-set ears, Hypothyroidism, Hypsarrhythmia, Sensorineural hearing impairment OMIM:607906
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Irritability, Rigidity, Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, P... OMIM:233910
Tetralogy Of Fallot
Proptosis OMIM:187500
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Hypothyroi... OMIM:618347
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Progressive hearing impairment, Decreased testi... OMIM:616113
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Depression, Paresthesia, Cogwheel rigidity, Action tremor, Distal sensory impairm... ORPHA:254886
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Tremor, Par... ORPHA:329478
Tay-Sachs Disease
Incoordination, Mania, Poor fine motor coordination, Memory impairment, Depression, Inability to ... ORPHA:845
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Gait distu... ORPHA:542310
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Proptosis, Hepatitis, Acute hepatic failure, Failure to thrive in infan... ORPHA:228426
Potocki-Lupski Syndrome
EEG abnormality, Hypothyroidism, Hearing impairment OMIM:610883
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:616719
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Ring Chromosome 12 Syndrome
Low-set ears, Symphalangism of the thumb, Clinodactyly, Breast hypoplasia, Cryptorchidism, Abnorm... ORPHA:1439
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Hypothyroidism, Brachydactyly, Macrotia ORPHA:1598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Hypercholesterolemia, Short foot, Poor fine motor coordination ORPHA:254531
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Low-set ears, Hypothyroidism, Posteriorly rotated ears OMIM:619750
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, Pseudohypo... OMIM:103580
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Cryptorchidism OMIM:619908
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Decreased circulating T4 concentration, Cryptorchidism, Talipes equinovarus, Hypoth... OMIM:608104
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Bradykinesia... ORPHA:391411
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Rigidity, Gait disturbance OMIM:618090
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Adrenal hypoplasia, Postaxial hand polydactyly... ORPHA:2166
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Cognitive impairment, Ataxia, De... OMIM:603472
Caribbean Parkinsonism
Bradykinesia, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia,... ORPHA:97355
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hearing impairment, Abnormal motor evoked potentials, Hypogonadism, Del... ORPHA:412057
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spast... ORPHA:206443
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Proptosis, Hepatitis, Failure to thrive in infancy, Pancytopenia, Hyper... OMIM:613385
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Down-sloping shoulders, Sensorineural hearing impairment, Slender t... ORPHA:391408
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Hypothyroidism, Hypohidrosis, Brachydactyly, Hypoparathyroidism ORPHA:1563
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... OMIM:614867
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Progressive hearing impairment, Decreased response to growth hormone stimulation ... OMIM:619234
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Arachnodactyly, Hypothyroidism OMIM:619013
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... OMIM:300539
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
4H Leukodystrophy
Optic atrophy, Decreased response to growth hormone stimulation test, Abnormality of thyroid phys... ORPHA:289494
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
19P13.12 Microdeletion Syndrome
Precocious puberty, Toe clinodactyly, Low-set ears, Conductive hearing impairment, Finger syndact... ORPHA:254346
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Recurrent otitis media, Type I diabetes mellitus, Hypothyroidism OMIM:620430
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ... ORPHA:1578
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Frontal upsweep of hair, Tremor, Ataxia OMIM:300983
Treacher-Collins Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Cryptorchidism, Hypoplasia of the ... ORPHA:861
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... OMIM:240300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Neuroectodermal Melanolysosomal Disease
Spasticity, Premature graying of hair, Tremor, Rigidity, Hypertonia, Ataxia, Hypopigmentation of ... ORPHA:33445
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Spinocerebellar Ataxia 50
Memory impairment, Postural tremor, Chorea, Head tremor, Action tremor, Myoclonus, Apraxia, Ataxia OMIM:620158
Cherubism
Proptosis ORPHA:184
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dystonia, Progressive cere... ORPHA:139485
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar... OMIM:618569
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb ataxia, Gait ... OMIM:615157
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Inherited Creutzfeldt-Jakob Disease
Depression, Progressive extrapyramidal muscular rigidity, Myoclonus, Confusion, Chorea, Short att... ORPHA:282166
Parkinson Disease 13, Autosomal Dominant, Susceptibility To