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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
abnormal coat/ hair morphology Tpoem1(IMPC)H HOM Early adult 1.08×10-09
abnormal forelimb morphology Tpoem1(IMPC)H HOM Early adult 1.08×10-09
increased circulating iron level Tpoem1(IMPC)H HOM Early adult 0.00
decreased spleen weight Tpoem1(IMPC)H HOM Early adult 1.64×10-06
impaired righting response Tpoem1(IMPC)H HOM Early adult 1.07×10-07
increased circulating aspartate transaminase level Tpoem1(IMPC)H HOM Early adult 1.57×10-07
tremors Tpoem1(IMPC)H HOM Early adult 1.09×10-05
abnormal startle reflex Tpoem1(IMPC)H HOM Early adult 2.55×10-06
increased circulating cholesterol level Tpoem1(IMPC)H HOM Early adult 0.00
decreased exploration in new environment Tpoem1(IMPC)H HOM Early adult 1.27×10-06
increased circulating creatinine level Tpoem1(IMPC)H HOM Early adult 4.21×10-11
increased mean platelet volume Tpoem1(IMPC)H HET Early adult 1.01×10-07
preweaning lethality, incomplete penetrance Tpoem1(IMPC)H HOM   Early adult 0.00
limb grasping Tpoem1(IMPC)H HOM Early adult 4.76×10-06
abnormal hindlimb morphology Tpoem1(IMPC)H HOM Early adult 3.85×10-13
decreased circulating glucose level Tpoem1(IMPC)H HET   Early adult 2.41×10-05
improved glucose tolerance Tpoem1(IMPC)H HET Early adult 7.19×10-05
abnormal gait Tpoem1(IMPC)H HOM Early adult 7.02×10-09

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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MicroCT E18.5

Embryo reconstruction

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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
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... 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, Congenital sensorineural hearing impairment, Cochlear malformation,... 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
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula... 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
Fetal Iodine Deficiency Disorder
Congenital goiter, Hearing impairment, Congenital hypothyroidism OMIM:228355
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... 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
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Fetal Iodine Syndrome
Sensorineural hearing impairment, Hypothyroidism ORPHA:1910
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hyp... ORPHA:705
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... 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
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Wolfram-Like Syndrome
Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineural hearing impairment, Optic ... ORPHA:411590
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Hearing impairment, Elevated circ... OMIM:274300
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Hammertoe,... OMIM:615048
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb ORPHA:2091
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... ORPHA:309169
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, I... OMIM:208920
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase, Distal sensory impairment OMIM:614369
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... ORPHA:95716
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Bangstad Syndrome
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... OMIM:210740
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... ORPHA:90673
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Blepharochalasis And Double Lip
Goiter OMIM:109900
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Saccharopinuria
Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic... ORPHA:3124
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... ORPHA:85292
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Ascher Syndrome
Deviation of finger, Hypothyroidism, Goiter ORPHA:1253
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Glutaric Aciduria Iii
Reduced peroxisomal glutaryl-CoA oxidase activity, Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... ORPHA:401901
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... OMIM:609152
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Postural tremor, Elevated circulating creatine kinase concentration,... ORPHA:64753
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyroto... ORPHA:525731
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ... OMIM:607250
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnor... OMIM:616267
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... ORPHA:95715
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri... ORPHA:216873
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... ORPHA:276435
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Increased LDL chole... OMIM:277460
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Mi... ORPHA:2994
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... OMIM:618387
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Male hypogonadism, Hypothyroidism OMIM:618625
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia... OMIM:261630
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... OMIM:615362
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... ORPHA:521406
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... ORPHA:1332
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Allan-Herndon-Dudley Syndrome
Hallux valgus, Elevated circulating thyroid-stimulating hormone concentration, Underfolded superi... OMIM:300523
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spinocerebellar Ataxia Type 12
Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... OMIM:232700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tapered finger, Long fingers, Calcaneovalgus deformity, Congenital hypothyroidism, Bilateral sens... ORPHA:521445
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Congenital hypothyroidism ORPHA:96183
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... OMIM:615768
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus OMIM:159900
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna... ORPHA:2491
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Spinocerebellar Ataxia Type 28
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Ga... ORPHA:101109
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... OMIM:128235
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... ORPHA:454887
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Morgagni-Stewart-Morel Syndrome
Depression, Memory impairment, Hyperuricemia, Cognitive impairment, Hypercholesterolemia, Hirsuti... ORPHA:77296
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:3363
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... ORPHA:1227
Li-Campeau Syndrome
Cryptorchidism, Hypothyroidism, Low-set ears, Patellar hypoplasia OMIM:619189
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Delayed prox... ORPHA:90674
Gne Myopathy
Hypothyroidism, Facial palsy ORPHA:602
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Abnorm... OMIM:614307
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Distal sensory impairme... ORPHA:488650
Hawkinsinuria
Hypothyroidism ORPHA:2118
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Cowden Syndrome 5
Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma... OMIM:615108
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Hypothyroidism, Hypsarrhythmia OMIM:301058
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Hypothyroidism OMIM:619851
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Tremor, Inability to walk, Small hand, Emotional lability OMIM:616269
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Aceruloplasminemia
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ... OMIM:604290
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Impaired pain sensation, Limb atax... OMIM:616719
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism, EEG abnormality OMIM:613970
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Abnormal pinna morphology, Tapered finger, Congenital hypothyroidism, Large fleshy ears, Clinodac... ORPHA:352530
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... OMIM:617013
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... ORPHA:247585
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Branchiootorenal Syndrome 1
Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c... OMIM:113650
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... OMIM:159950
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi... OMIM:618093
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Seckel Syndrome 7
Abnormal carpal morphology, Central hypothyroidism, Hip dysplasia, Microtia, Clinodactyly of the ... OMIM:614851
Cowden Syndrome 6
Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma... OMIM:615109
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Posteriorly rotated ears, Camptodactyly of finger, Thyroid agenesis, Cryptorc... ORPHA:3047
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... ORPHA:98807
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... OMIM:617916
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... ORPHA:240085
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Irritability, Dystonia, Loss of a... OMIM:615010
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with... OMIM:616710
Cog4-Cdg
Ataxia, Thick hair, Hepatosplenomegaly, Irritability, Cirrhosis, Hypercholesterolemia, Thrombocyt... ORPHA:263501
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat... ORPHA:562
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cereb... ORPHA:314978
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Urocanic Aciduria
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... ORPHA:210128
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hammertoe, Hypertonia, Steppage gait, Mental de... OMIM:609260
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... ORPHA:90117
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent fingertip pads, Diabetes mellitus, Abnormality of the ear, EEG abnormality, Recurrent o... ORPHA:391372
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co... OMIM:613280
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Congenital hip dislocation, Increased T3/T4 ratio, Conge... OMIM:614450
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620211
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... ORPHA:3344
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Hemiatrophy, Dystonia, Difficulty wa... ORPHA:306669
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ... ORPHA:71517
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Short foot, Hip... OMIM:601427
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Hepatosplenomegaly, Myocl... ORPHA:2590
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot,... OMIM:610185
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... OMIM:606438
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Dystonia 28
Precocious puberty, Hypothyroidism, Clinodactyly of the 5th finger ORPHA:589618
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Sensorineural hearing impairment, Short toe, Short pha... OMIM:600430
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Gait ataxia, Depression, Limb ataxia, Gait disturbance, Difficulty... ORPHA:98764
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... ORPHA:48818
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoath... OMIM:261640
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... ORPHA:3258
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, ... OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Progressive psychomo... ORPHA:363400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Atelis Syndrome 1
Glue ear, Hypothyroidism, Microtia OMIM:620184
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... ORPHA:254881
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Cystathioninuria
Tremor, Cystathioninuria, Talipes equinovarus, Cystathioninemia ORPHA:212
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Bilateral coxa valga, Limb dystonia OMIM:620270
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Cowden Syndrome 1
Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcino... OMIM:158350
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Septo-optic dysplasia, Adrenal hypoplasia, Cryptorchidism, Hypothyro... ORPHA:95496
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Posteriorly rotated ears, Hearing impairment, Low-set ears, Broad distal phalanx of finger, Hypot... OMIM:617763
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... OMIM:616795
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Proptosis, Hypochromic anemia OMIM:606893
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... ORPHA:240094
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Diabetes mellitus, Congenital hip dislocation, Facial ... ORPHA:456312
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Tetralogy Of Fallot
Cryptorchidism, Proptosis ORPHA:3303
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Demen... ORPHA:79263
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Advanced ossification of c... OMIM:614613
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi... OMIM:618598
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Tapered finger, Protruding ear, Microtia, Low-set ears, Clinodactyly of... OMIM:618829
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urinary acylglycine pro... ORPHA:391417
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Cryptorchidism, Sensorineural hearing impairment, Delayed puberty, Macrot... OMIM:616817
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Low-set ears, Ectrodactyly, Clinodacty... ORPHA:397590
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Absent nipple, Aplasia of the thymus, Facial palsy, Broad hallux, Clino... OMIM:620186
Ohdo Syndrome, Sbbys Variant
Posteriorly rotated ears, Cryptorchidism, Low-set ears, Long thumb, Hypothyroidism, Long hallux, ... OMIM:603736
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, S... ORPHA:209905
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... OMIM:614298
Congenital Disorder Of Glycosylation, Type Ii
Sensorineural hearing impairment, Hypothyroidism, Low-set ears, Hypsarrhythmia OMIM:607906
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypothyroidism, Decreased response to growth hormone stimulation ... OMIM:618347
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculat... OMIM:604484
Tetralogy Of Fallot
Proptosis OMIM:187500
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Limited m... OMIM:222300
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Potocki-Lupski Syndrome
EEG abnormality, Hypothyroidism, Hearing impairment OMIM:610883
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... ORPHA:845
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Srd5A3-Cdg
Optic atrophy, Hypothyroidism, Decreased response to growth hormone stimulation test, Hearing imp... ORPHA:324737
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Progressive... OMIM:616113
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... ORPHA:157846
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention defic... ORPHA:79254
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c OMIM:606176
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Ring Chromosome 12 Syndrome
Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, Microtia, Symphalangism of the thumb,... ORPHA:1439
Monosomy 18P
Protruding ear, Abnormal antihelix morphology, Macrotia, Hypothyroidism, Brachydactyly ORPHA:1598
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypertelorism, Splen... OMIM:170100
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa... OMIM:603472
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... ORPHA:542310
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Posteriorly rotated ears, Hypothyroidism, Low-set ears OMIM:619750
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly... ORPHA:2166
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated circulating par... OMIM:103580
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypohidrosis, Hypothyroidism, Short distal phalanx of finger, Brachydactyly ORPHA:1563
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism OMIM:619908
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Down-sloping shoulders, Deviation of the 5th toe, Sensorineural hearing impair... ORPHA:391408
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Tremor, Jaundice, Schistocytosis, Elevated circulating creatinine con... OMIM:274150
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Arachnodactyly, Adducted thumb, Abnormal motor evoked potentials, Hypogonadism, Type II diabetes ... ORPHA:412057
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, P... OMIM:619234
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Talipes equinovarus, Low-set ears, Camptodactyly, Decreased circulating T4 concen... OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... OMIM:612462
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Spasti... ORPHA:33445
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Short foot, Poor fine motor coordination, Hypercholesterolemia, Clinodactyly ORPHA:254531
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Galactokinase Deficiency
Speech apraxia, Psychomotor deterioration, Hepatomegaly, Hepatosplenomegaly, Increased level of g... ORPHA:79237
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor OMIM:620158
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Chromosome 1P35 Deletion Syndrome
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Increased femoral ant... OMIM:617930
Intellectual Developmental Disorder, X-Linked 104
Tremor, Frontal upsweep of hair, Spasticity, Ataxia OMIM:300983
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Lower limb spasticity, Broad-based gait, Parkinsonism, Tremor, Abnormal fear-indu... ORPHA:3077
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... ORPHA:139485
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Microtia, Conductive... ORPHA:861
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase co... OMIM:615673
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Precocious puberty, Cryptorchidism, External ear... ORPHA:254346
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypertelorism, Hyp... OMIM:613385
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Hypophosphatasia, Childhood
Proptosis, Low alkaline phosphatase OMIM:241510
Cherubism
Proptosis ORPHA:184
Megalocornea-Intellectual Disability Syndrome
Tapered finger, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Metatarsus val... ORPHA:2479
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypopituitarism, Hypothyroidism OMIM:619013
Atypical Rett Syndrome
Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Small hand, Limb myocl... ORPHA:3095
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... ORPHA:352649
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Split hand, Short 4th metacarpal, Short 4th toe, Shor... OMIM:618569
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor... OMIM:609053
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... ORPHA:137898
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Charcot-Marie-Tooth Disease And Deafness
Tremor, Split hand, Distal sensory impairment, Hammertoe, Steppage gait, Gait disturbance OMIM:118300
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... OMIM:614867
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Impaired distal vibration sensation, Mental deteri... OMIM:300623
Distal Xq28 Microduplication Syndrome
Metatarsus adductus, Microtia, Absent antihelix, Clinodactyly, Hypothyroidism ORPHA:293939
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... ORPHA:309854
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Hepa... OMIM:619111
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Stüve-Wiedemann Syndrome
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Hypohidrosis... ORPHA:3206
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Reni Syndrome
Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Adrenal insufficiency, Hypothyroi... OMIM:617575
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Jung Syndrome
Hypothyroidism ORPHA:2321
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... ORPHA:95717
B4Galt1-Cdg
Hypothyroidism, Low-set ears ORPHA:79332
Microcephaly 5, Primary, Autosomal Recessive
Proptosis OMIM:608716
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, Bradykinesi... OMIM:617435
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Low-set, posteriorly rotated ears, Mesoaxial polydac... ORPHA:672
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... OMIM:619738
Isolated Atp Synthase Deficiency
Hypogonadism, Sensorineural hearing impairment, Optic atrophy, Hypothyroidism ORPHA:254913
Autosomal Dominant Optic Atrophy, Classic Form
Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Hypogonadism, Temporal optic ... ORPHA:98673
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... ORPHA:1170
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... OMIM:263400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the upp... ORPHA:371428
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Proptosis, Small for gestational age, Hypertelorism ORPHA:352490
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Proptosis, Anemia OMIM:607115
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism ORPHA:1923
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:313200
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Kleeblattschaedel
Proptosis OMIM:148800
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Holoprosencephaly 11
Proptosis, Polysplenia, Hypotelorism OMIM:614226
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Irritability, Hypertonia, Sp... OMIM:616881
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis OMIM:619470
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,... ORPHA:329478
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Depression, Memory impairment, Gait ataxia, Bradykin... OMIM:137440
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Trisomy X
Tremor, Depression, Attention deficit hyperactivity disorder, Cognitive impairment, Clinodactyly ... ORPHA:3375
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of paro... ORPHA:79078
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hypotelorism, Deeply set eye, Increased circulat... OMIM:185070
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Sensorineural hearing impairment, Hypothyroidism, Low-set ears ORPHA:85321
Pontocerebellar Hypoplasia Type 10
Proptosis ORPHA:411493
Intellectual Developmental Disorder, Autosomal Dominant 52
Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hearing impairment... OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, Spastic tetraplegia, Spa... OMIM:300055
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Diabetes mellitus, Hyperthyroidism, Abnormality of the liver, Fail... ORPHA:254892
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, Distal sensory impair... OMIM:302800
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct, Brachydactyly ORPHA:79414
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Smith-Magenis Syndrome
Toe syndactyly, Precocious puberty, EEG abnormality, Hand polydactyly, Clinodactyly of the 5th fi... ORPHA:819
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Abnormality of the hepatic vascu... ORPHA:275555
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn... ORPHA:240071
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... OMIM:312080
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Confusion, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parapare... OMIM:607483
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr... ORPHA:1578
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Low anterior hairline, Hypertrichosis, Low posterior hairline... ORPHA:528
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis ORPHA:329284
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Hypothyroidism, Interictal epileptiform ac... OMIM:618922
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Smith-Magenis Syndrome
Hypertriglyceridemia, Impaired pain sensation, Synophrys, Short palm, Hypercholesterolemia, Brach... OMIM:182290
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Thick hair, Tremor, Inability to walk... OMIM:617675
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Omenn Syndrome
Short toe, Hypothyroidism, Thyroiditis, Abnormal metaphysis morphology ORPHA:39041
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Elevated circulat... OMIM:615381
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Recurrent otitis media, Macrotia, Hypothyroidism ORPHA:449291
Intellectual Developmental Disorder, Autosomal Dominant 26
Proptosis, Small for gestational age, Hypertelorism OMIM:615834
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis ORPHA:2370
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Lingual thyroid OMIM:606519
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Galloway-Mowat Syndrome 10
Arachnodactyly, Congenital hypothyroidism OMIM:619609
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress... ORPHA:79095
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign, Uns... OMIM:183090
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Failure to thrive, Small for gestational age, Proptosis, Decreased body weight OMIM:618346
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Acrodysostosis 1 With Or Without Hormone Resistance
Short palm, Short metacarpal, Brachydactyly, Cryptorchidism, Elevated circulating thyroid-stimula... OMIM:101800
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Proptosis OMIM:616171
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Inability to walk, Babinski sign, Mental deterioration, Abnormal py... ORPHA:52368
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Periventricular Nodular Heterotopia 7
Hypertelorism, Cryptorchidism, Deeply set eye, Proptosis, Failure to thrive OMIM:617201
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegi... OMIM:617864
Filippi Syndrome
Cryptorchidism, Proptosis, Decreased body weight OMIM:272440
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Hammertoe, Multinodular goiter OMIM:620189
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Jaundice, Ovarian neoplasm, Weight loss, Proptosis,... ORPHA:370348
Fucosidosis
Hypothyroidism, Hearing impairment, Hyperhidrosis ORPHA:349
Combined Oxidative Phosphorylation Deficiency 33
EEG with burst suppression, Sensorineural hearing impairment, Hypothyroidism OMIM:617713
Glutathionuria
Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor OMIM:231950
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa... OMIM:162300
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Supernumerary nipple, Cryptorchidism, Abnormal fibula morphology, Hypohidrosis, Low-s... ORPHA:1812
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hypothyroidism OMIM:619147
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Down Syndrome
Aganglionic megacolon, Sandal gap, Type II diabetes mellitus, Clinodactyly of the 5th finger, Rou... ORPHA:870
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... OMIM:600785
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Vertigo, Diabetes mellitus, Hypothyroidism ORPHA:263297
Ataxia-Telangiectasia
Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Cognitive ... ORPHA:100
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... ORPHA:3202
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus OMIM:609541
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Dementia, Falls, Cognit... ORPHA:683
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Autosomal Dominant Dopa-Responsive Dystonia
Paresis of extensor muscles of the big toe, Hypothyroidism, Talipes equinovarus, Hearing impairment ORPHA:98808
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia, Mental deterioration,... OMIM:300894
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... ORPHA:70594
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal placement of ... OMIM:616263
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ... OMIM:619092
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Temple Syndrome
Hypertriglyceridemia, Small hand, Short foot, Hypercholesterolemia, Clinodactyly OMIM:616222
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Oculoskeletodental Syndrome
Cryptorchidism, Hypothyroidism, Short femoral neck, Hearing impairment OMIM:618440
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Pontocerebellar Hypoplasia, Type 3
Proptosis, Decreased body weight OMIM:608027
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Head titubation, Rigidity, Inability to walk, Truncal ataxia, Gait ataxia, ... OMIM:618877
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo... OMIM:168601
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Decreased response to growth hormone stimulation test, Low-set ears, Round ear, Clino... OMIM:614114
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... OMIM:201100
Timothy Syndrome
Hypothyroidism, Cutaneous syndactyly OMIM:601005
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... ORPHA:206594
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Progressive neurologic deterioration, Nodular regenerative hyperplasia of live... ORPHA:247691
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Rhizomelia, Supernumerary nipple, Metaphyseal widening, Elevated circulating creati... OMIM:614376
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty OMIM:615952
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Proptosis, Hypothyroidism, Anemia ORPHA:3452
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala... OMIM:312170
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom... ORPHA:733
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyramidal motor... ORPHA:79233
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Anemia ORPHA:1192
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Ddost-Cdg
Primary hypothyroidism ORPHA:300536
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli... OMIM:618056
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Central hypothyroidism ORPHA:514
Perry Syndrome
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function ORPHA:178509
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Abnormality of ext... ORPHA:320406
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, D... OMIM:272750
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment,... OMIM:616505
Laron Syndrome
Hypercholesterolemia, Short toe, Brachydactyly ORPHA:633
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Proptosis, Hypertelorism OMIM:618577
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Neuhauser Syndrome
Arachnodactyly, Cupped ear, Genu valgum, Large fleshy ears, Primary hypothyroidism OMIM:249310
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, S... OMIM:608799
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis ORPHA:85172
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Congenital hepatic... ORPHA:79230
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin... OMIM:616730
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst... OMIM:168605
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Depression, Opisthotonus, Myoclonic spasms, Frequent fall... OMIM:184850
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small hand, Short foot, Poor fine motor coordination, Hypercholesterolemia, Clinodactyly ORPHA:96184
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating guanosine concentration,... OMIM:613179
Adiposis Dolorosa
Xerostomia, Hypothyroidism ORPHA:36397
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Hypertelorism, Splenomegaly, Cryptorchidism, Pancreatic l... OMIM:235255
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder OMIM:619556
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Nephrotic Syndrome, Type 1
Hypothyroidism OMIM:256300
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Immunodeficiency 102
Hypothyroidism OMIM:301082
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Developmental And Epileptic Encephalopathy 75
Hypertelorism, Proptosis, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Cystinosis
Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:213
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Impaired temperature sensation, Progressive p... OMIM:268800
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Proptosis OMIM:242500
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Lig4 Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Hypothyroidism, Type II diabetes mellitus OMIM:606593
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho... OMIM:168600
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Proptosis ORPHA:157965
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Low-set ea... OMIM:607944
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Simple ear, Hip dislocation, Short foot, EEG abnormality, Fibular bowing, Hip dy... OMIM:618268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Posteriorly rotated ears, Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finge... OMIM:300968
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Proptosis, Pancreatic islet-cell... OMIM:246200
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... ORPHA:470
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... OMIM:311510
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Tapered finger, Small hand, Hypercholesterolemia ORPHA:401923
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Poems Syndrome
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Metaphyseal sclerosis, Prima... ORPHA:2905
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Tbck-Related Intellectual Disability Syndrome
Broad toe, Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism... ORPHA:488632
Lig4 Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hypo... ORPHA:1667
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Hypertelorism OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered finger, Bilateral cr... OMIM:300998
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Optic atrophy, Hypothyroidism, Bilateral sensorineural hearing impairment ORPHA:66634
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair ORPHA:66633
Optic Pathway Glioma
Precocious puberty, Proptosis ORPHA:2086
Martin-Probst Syndrome
Cryptorchidism, Sensorineural hearing impairment, Hypoplastic nipples, Low-set ears, Hypothyroidism OMIM:300519
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Clubbing, Hypothyroidism OMIM:226300
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Aden... ORPHA:201
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Koolen-De Vries Syndrome
Arachnodactyly, Cryptorchidism, Hip dislocation, Protruding ear, Overfolded helix, Hypothyroidism ORPHA:96169
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs OMIM:615605
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Preaxial hand po... ORPHA:96179
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hyperthyroidism, Toe syndactyly, Camptodactyly of finger, Crypt... ORPHA:2008
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Tremor, Sparse eyebrow... OMIM:617988
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia OMIM:272800
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Obesity OMIM:618821
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Hyperthyroidism, Precocious puberty ... ORPHA:249
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Andersen Cardiodysrhythmic Periodic Paralysis
Short metacarpal, Hyperthyroidism, Toe syndactyly, Short metatarsal, Small hand, Small finger, Sh... OMIM:170390
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Proptosis ORPHA:2522
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume OMIM:222470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Elevated circulating creatine kinase concentration, Tapered ... OMIM:608836
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Limb undergrowth, Clinodacty... OMIM:616541
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... OMIM:311300
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia, Leukopenia,... OMIM:617053
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Conge... OMIM:271510
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Macrotia, Hypothyroidism ORPHA:457212
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Mental deterioration, Dystonia OMIM:304700
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... ORPHA:713
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Hype... ORPHA:90065
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... ORPHA:765
Frontoocular Syndrome
Proptosis, Hypotelorism OMIM:605321
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... ORPHA:69663
East Syndrome
Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Di... ORPHA:199343
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Clubbing of fingers, Recurrent otitis media, Type I diabetes mellitus, Hypothyroidism OMIM:614700
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Osteolytic defects o... ORPHA:2457
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Sensorineural hearing impairment, Optic atrophy, Hypothyroidism, Premature p... OMIM:616878
Monosomy 18Q
Arachnodactyly, Tapered finger, Bilateral cryptorchidism, Sensorineural hearing impairment, Bilat... ORPHA:1600
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... OMIM:616840
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... OMIM:277440
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Hashimoto thyroiditis... ORPHA:589
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Unsteady gait, Gait ataxia, Intention tremor, Normochromic anemia, Hypoalbuminem... OMIM:254900
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Dominant Beta-Thalassemia
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Genu valgum, Adrenal insufficien... ORPHA:231226
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia ORPHA:84064
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Frias Syndrome
Proptosis, Hypertelorism OMIM:609640
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Arthrogryposis, Distal, Type 2A
Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai... OMIM:193700
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp... ORPHA:653
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Thick hair, Tremor, Dysmetria, Depression, Progressive cerebellar at... ORPHA:502423
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Lymphatic Malformation 6
Abnormal pinna morphology, Cupped ear, Hydrocele testis, Hypothyroidism, Hearing impairment OMIM:616843
Bilateral Polymicrogyria
Sensorineural hearing impairment, Central hypothyroidism, Facial diplegia, Abnormal glossopharyng... ORPHA:268940
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Hyperextensibility of the finger joints, Hip contracture, Internally ... OMIM:619503
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga OMIM:109120
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Bowing of the legs,... ORPHA:1855
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Long fingers, Optic atrophy,... OMIM:617527
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia... ORPHA:2828
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials OMIM:617523
Myoclonic-Astatic Epilepsy
Syndactyly, Ataxia, Frontal balding, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emo... ORPHA:1942
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism OMIM:304790
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Proptosis, Small for gestational age, Hypotelorism OMIM:613174
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Hyperlysinemia
Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Arg... ORPHA:2203
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Hypogonadism, Cholelithiasis, Hypot... ORPHA:231222
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine kinase concent... OMIM:615356
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Migraine, Familial Hemiplegic, 2
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Short Stature With Microcephaly And Distinctive Facies
Small for gestational age, Anisopoikilocytosis, Proptosis, Decreased body weight, Anemia OMIM:615789
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Proptosis OMIM:617481
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Partial duplication of thumb phalanx, Hypercholesterolemia, Clinod... OMIM:618348
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Metaphyseal sclerosis, Cryptorchidism, Patellar aplasia, Finger symphalangism, ... ORPHA:221008
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Sensorineur... ORPHA:440354
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... OMIM:300972
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Intellectual Developmental Disorder, X-Linked 12
Tremor, Depression, Hyperkinetic movements, Gait disturbance, Spasticity OMIM:300957
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiolog... ORPHA:93111
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly ORPHA:309155
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Sneddon Syndrome
Tremor, Mental deterioration, Impaired distal tactile sensation, Hemiplegia, Lymphopenia OMIM:182410
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Hypertelorism ORPHA:89844
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... ORPHA:275761
Ataxia-Telangiectasia
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Abnormal hair morphology, I... OMIM:208900
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait distu... ORPHA:83629
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Cryptorchidism, 2-3... OMIM:107480
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, L... OMIM:618183
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Hypothyroidism OMIM:251900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Limb undergrowth, Hypothyroidism, Hip dislocation OMIM:618005
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Elevated circulating alkaline phosphatase concentration, Proptosis, Hypertelo... OMIM:156400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Postaxial hand polydactyly, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Irritability, Large hands, Hyp... OMIM:615574
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Gorham-Stout Disease
Abnormal pelvis bone morphology, Osteolysis involving bones of the upper limbs, Abnormal finger m... ORPHA:73
Cutis Laxa, Autosomal Recessive, Type Iie
Proptosis OMIM:619451
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Proptosis, Hypertelorism OMIM:618961
Sialidosis Type 1
Ataxia, Tremor, Splenomegaly, Slurred speech, Aminoaciduria, Gait disturbance, Myoclonus ORPHA:812
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Secondary Short Bowel Syndrome
Aganglionic megacolon, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Beta-Thalassemia Major
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Genu valgum, Adrenal insufficien... ORPHA:231214
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Teebi Hypertelorism Syndrome 2
Proptosis, Hypertelorism OMIM:619736
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia ORPHA:438216
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance ORPHA:457240
Muenke Syndrome
Proptosis, Hypertelorism OMIM:602849
Ritscher-Schinzel Syndrome 4
Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set eye, Proptosis OMIM:619435
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Sandal gap, Small hand, Short foot, Iron deficiency anem... OMIM:618885
Spinocerebellar Ataxia Type 3
Proptosis ORPHA:98757
Phace Syndrome
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia OMIM:618838
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis OMIM:166300
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Proptosis, Hypertelorism ORPHA:93262
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Camurati-Engelmann Disease
Proptosis, Bone marrow hypocellularity, Delayed puberty, Slender build, Anemia OMIM:131300
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Vitamin K Antagonist Embryofetopathy
Proptosis, Hypertelorism ORPHA:1914
Bacterial Toxic-Shock Syndrome
Confusion, Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating ... ORPHA:36234
Down Syndrome
Short palm, Aganglionic megacolon, Sandal gap, Short middle phalanx of the 5th finger, Shallow ac... OMIM:190685
Scleromyxedema
Abnormality of central nervous system electrophysiology, Abnormality of thyroid physiology ORPHA:167635
Stickler Syndrome Type 1
Proptosis ORPHA:90653
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irregul... OMIM:619260
H Syndrome
Diabetes mellitus, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Proptosis, Hypogonadis... ORPHA:168569
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss... OMIM:607426
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Dementi... OMIM:105210
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Developmental And Epileptic Encephalopathy 48
Proptosis OMIM:617276
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Overlapping toe, Clonus, Hypertonia, Long eyelashes, Talipes equino... OMIM:617301
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... OMIM:277900
Jackson-Weiss Syndrome
Proptosis, Hypertelorism ORPHA:1540
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis, Cachexia ORPHA:2774
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... OMIM:307800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Sensorineural hearing impairment, Elevated circulating thyro... OMIM:610199
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Sensorineural hearing impai... ORPHA:550
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Trisomy 12P
Proptosis, Supernumerary nipple, Hypertelorism ORPHA:1699
Desbuquois Syndrome
Proptosis ORPHA:1425
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Tetanus
Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, S... ORPHA:3299
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Proptosis, Hypertelorism OMIM:263210
Donnai-Barrow Syndrome
Proptosis, Hypertelorism ORPHA:2143
Intellectual Developmental Disorder, Autosomal Dominant 42
Posteriorly rotated ears, Tapered finger, EEG with burst suppression, Sensorineural hearing impai... OMIM:616973
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase ORPHA:397744
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Central hypothyroidism, Clinodactyly of the 5th finger, Macrotia, Short digit OMIM:300912
Crouzon Syndrome
Proptosis, Hypertelorism ORPHA:207
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Prominent crus ... ORPHA:794
White-Kernohan Syndrome
Hip dysplasia, Low-set ears, Recurrent otitis media, Macrotia, Hypothyroidism, Simple ear OMIM:619426
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Coxa valga, Hyperlipidemia, Osteolytic def... OMIM:248370
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Jaundice, Hypertonia, Clinodactyly of the 5th finger, Hypoproteinemia OMIM:608093
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Hip dysplasia, Abnormal autonomic nervous system physiology, Abnormal helix morph... ORPHA:453499
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Hallux valgus, Streak ovary, Unilateral cryptorchidism, Bilate... ORPHA:1772
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration, Failure to thrive, Proptosis, Hypertelorism OMIM:618580
Sézary Syndrome
Hepatomegaly, Alopecia, Tremor, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal lymphocyt... ORPHA:3162
Typhoid
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia ORPHA:99745
Microphthalmia, Syndromic 6
Finger syndactyly, Brachydactyly, Toe syndactyly, Female hypogonadism, Posteriorly rotated ears, ... OMIM:607932
Tyshchenko Syndrome
Cryptorchidism, Proptosis, Supernumerary nipple OMIM:615102
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Proptosis, Obesity, Hypertelorism OMIM:620250
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis OMIM:614078
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria OMIM:615578
Trisomy 10P
Absent gallbladder, Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potenti... ORPHA:171929
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertelorism, Proptosis, Hepatic hemangioma, Shallo... ORPHA:73230
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Caffey Disease
Proptosis ORPHA:1310
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Abnormality of thyroid physiology, Abnormal femoral head morpholo... ORPHA:1830
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Thrombocytopenia, Abnormal pyram... OMIM:612199
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal ... ORPHA:646
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Incoordination, Elevated circulating creatinine concentration, Increased bloo... OMIM:223900
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Abnormality of extrapyramidal motor function, D... ORPHA:79255
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Proptosis, Hypogonadism, Delayed puberty, Slend... ORPHA:1328
Alexander Disease
Diabetes mellitus, Facial palsy, Precocious puberty, Hyperhidrosis, EEG abnormality, Abnormal aut... ORPHA:58
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Hearing impairment OMIM:613254
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Fasciculations, Limb hypertonia OMIM:620327
Congenital Disorder Of Glycosylation, Type Ia
Macrotia, Hypergonadotropic hypogonadism, Hypothyroidism OMIM:212065
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cryptorchidism, Abnormal lactate dehydrogenase level, Hypotelorism, Proptosis, Abnormal circulati... ORPHA:2215
Thanatophoric Dysplasia
Proptosis ORPHA:2655
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Propt... ORPHA:33226
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Brachydactyly, Decreased response to... ORPHA:444077
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... OMIM:234200
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Cryptorchidism, Small hand, Hip dysplasia, Microtia, Low-set ears, Hypothyroidism... OMIM:620005
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Rigidi... ORPHA:521426
Chitayat Syndrome
Proptosis, Hypertelorism OMIM:617180
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Progressive neurologic deterioration, Tremor, Abnormal circulating fatty-acid conce... ORPHA:263455
Marshall-Smith Syndrome
Failure to thrive, Proptosis, Hypertelorism ORPHA:561
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Optic atrophy, Hypothyroidism OMIM:619487
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Posteriorly rotated ears, Broad... OMIM:300166
Mercury Poisoning
Tremor, Hypokalemia, Confusion, Dystonia ORPHA:330021
Distal Deletion 10Q
Sandal gap, Tapered finger, Congenital sensorineural hearing impairment, 2-3 toe cutaneous syndac... ORPHA:96148
Koolen-De Vries Syndrome Due To A Point Mutation
Prominent fingertip pads, Anomaly of lower limb diaphyses, Arachnodactyly, Decreased response to ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Prominent fingertip pads, Anomaly of lower limb diaphyses, Arachnodactyly, Decreased response to ... ORPHA:363958
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Sensorineural hearing impairment, Compensated hypothyroidism, Optic atrophy ORPHA:480864
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Proptosis, Diabetes insipid... ORPHA:35687
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology ORPHA:93256
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Xerostomia, Small hand, Absence of pubert... ORPHA:398069
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Thanatophoric Dysplasia Type 2
Proptosis ORPHA:93274
Houge-Janssens Syndrome 3
Proptosis, Hypertelorism OMIM:618354
Bohring-Opitz Syndrome
Supernumerary nipple, Hypertelorism, Proptosis, Hyperechogenic pancreas, Failure to thrive OMIM:605039
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Proptosis, Hypertelorism ORPHA:742
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Hypertelorism ORPHA:2165
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Hypothyroidism, Short lower limbs ORPHA:1556
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tapered finger, Tremor, Unilateral radial aplasia, Partial absence of thumb, Synop... ORPHA:476126
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Chops Syndrome
Hypertelorism, Splenomegaly, Cryptorchidism, Obesity, Proptosis OMIM:616368
Bainbridge-Ropers Syndrome
Supernumerary nipple, Hypertelorism, Precocious puberty, Cryptorchidism, Deeply set eye, Proptosi... OMIM:615485
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypocalcemia, Hypoplastic spleen, Brachydactyly OMIM:602361
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... OMIM:601104
Isolated Biliary Atresia
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism ORPHA:30391
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Long eyelashes,... OMIM:617281
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... ORPHA:512
Interstitial Lung And Liver Disease
Clubbing, Hypothyroidism OMIM:615486
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Overlapping toe, Short 1st metaca... ORPHA:798
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Proptosis, Hypertelorism OMIM:614800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ... ORPHA:79259
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ... ORPHA:94093
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Hip subluxation, Cry... OMIM:619325
Premature Aging Syndrome, Penttinen Type
Hypertelorism, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Prop... OMIM:601812
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Ataxia, Abnorm... OMIM:214500
20Q13.33 Microdeletion Syndrome
Proptosis, Small for gestational age, Failure to thrive in infancy, Hypertelorism ORPHA:261311
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Co... ORPHA:25
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Crouzon Syndrome
Hypertelorism, Proptosis, Dysgerminoma, Shallow orbits OMIM:123500
Townes-Brocks Syndrome
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, External ear malformation, Cryptorchidism... ORPHA:857
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Myoclonus, Gait... ORPHA:98794
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic ... OMIM:616271
Muenke Syndrome
Proptosis, Hypertelorism ORPHA:53271
Microhydranencephaly
Proptosis OMIM:605013
Charge Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hand monodactyly,... OMIM:214800
Desbuquois Dysplasia 1
Proptosis, Obesity OMIM:251450
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Decreased response to growth hormone stimulation test, Premature thelarche, Tapere... ORPHA:268261
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Abnormality of the abdominal organs, Proptosis ORPHA:2409
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Mixed hearing impairment, Shor... OMIM:620305
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Cystathioninu... OMIM:277400
Acrofrontofacionasal Dysostosis 2
Proptosis, Hypertelorism OMIM:239710
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, H... OMIM:610505
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Hepatomegaly, Elevated circulating creatine kinase concentration, Clonus OMIM:619424
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Postaxial polydactyly, Cryptorchidism, Sensorineura... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Postaxial polydactyly, Cryptorchidism, Sensorineura... ORPHA:352665
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy OMIM:610644
Japanese Encephalitis
Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Op... ORPHA:79139
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Proptosis, Hyperinsulinemia OMIM:608612
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Hypoammonemia, Clonus, Genu valgum, Depression, Anemia, Hypokale... ORPHA:534
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Hypothyroidism, Clinodactyly of the 5th finger, Hearing impair... ORPHA:1052
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Abnormal intrahepatic bile duct morpholog... ORPHA:363618
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Atelosteogenesis Type I
Proptosis, Abnormal pancreatic duct morphology, Hypertelorism ORPHA:1190
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... ORPHA:411634
Serotonin Syndrome
Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... ORPHA:43116
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Tremor, Abno... ORPHA:3008
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Hypohidrosis, Male hypogonadi... ORPHA:90321
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Thyroiditis, Type I diabetes mellitus, Hypo... ORPHA:37042
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:191100
Steinert Myotonic Dystrophy
Short attention span, Alopecia, Early balding, Inability to walk, Emotional lability, Depression,... ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Clonus, Babinski sign, Dysmetria, Gait ataxia, Distal se... OMIM:606721
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... OMIM:619991
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Irritability, Hypertonia, Cir... OMIM:616539
Chromosome 1P36 Deletion Syndrome, Distal
Thickened helices, Conductive hearing impairment, Clinodactyly of the 5th finger, Hypothyroidism,... OMIM:607872
Ogden Syndrome
Cryptorchidism, Proptosis ORPHA:276432
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Posteriorly rotated ears, Aplasia... ORPHA:96176
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Hyperostosis Cranialis Interna
Proptosis OMIM:144755
Congenital Myopathy 22A, Classic
Deeply set eye, Proptosis OMIM:620351
Craniosynostosis 4
Ectopic posterior pituitary, Proptosis, Hypertelorism OMIM:600775
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Irritability, Hypertoni... OMIM:618367
Localized Scleroderma
Deeply set eye, Proptosis, Hashimoto thyroiditis ORPHA:90289
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... OMIM:615512
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Proptosis, Abnormality of the pancreas, Hypertelorism ORPHA:1555
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, 2-3 toe syndactyly,... OMIM:619471
Gabriele-De Vries Syndrome
Hallux valgus, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, S... ORPHA:506358
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hennekam-Beemer Syndrome
Mastocytosis, Failure to thrive, Proptosis ORPHA:2135
Shashi-Pena Syndrome
Proptosis, Hypertelorism OMIM:617190
Mend Syndrome
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Cryptorchidism, Long fingers,... ORPHA:401973
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism OMIM:613673
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Arachnodactyly, Cryptorchidism, Optic... ORPHA:567
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Sensorineural hearing... ORPHA:1606
Hallermann-Streiff Syndrome
Cryptorchidism, Small hand, Short foot, Clinodactyly of the 5th finger, Hypothyroidism ORPHA:2108
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Ovarian cyst, Short long bon... OMIM:618188
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Genitopatellar Syndrome
Hip contracture, Brachydactyly, Congenital hip dislocation, Cryptorchidism, Patellar aplasia, Inf... OMIM:606170
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Failure to thrive, Proptosis, Hypertelorism OMIM:115150
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Splenomegaly, Elevated... OMIM:256040
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyp... OMIM:251100
Acute Intermittent Porphyria
Hyponatremia, Somatic sensory dysfunction, Confusion, Tremor, Depression, Pseudobulbar paralysis,... ORPHA:79276
Aminopterin/Methotrexate Embryofetopathy
Proptosis, Hypertelorism ORPHA:1908
Cole-Carpenter Syndrome 2
Proptosis, Hypertelorism OMIM:616294
Craniofaciofrontodigital Syndrome
Hypertelorism, Proptosis, Large for gestational age ORPHA:363705
Acrocraniofacial Dysostosis
Proptosis, Hypertelorism ORPHA:949
Xylt1-Cdg
Truncal obesity, Proptosis, Hepatomegaly ORPHA:370930
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Ataxia, Portal hypertension, Highly arched eyebrow, Tremor, Congenital hepatic fibr... ORPHA:1454
Spinocerebellar Ataxia-Dysmorphism Syndrome
Proptosis ORPHA:1185
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Viral hepatitis, Hepatocellular carcinoma, Abnormal... ORPHA:101330
Cockayne Syndrome A
Anhidrosis, Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decr... OMIM:216400
Holoprosencephaly 3
Cyclopia, Central diabetes insipidus, Proptosis, Hypotelorism OMIM:142945
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Tremor, Hyperammonemia, Neonatal death, Hyperalaninemia, Intention tremor OMIM:614052
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Proptosis OMIM:617895
Saul-Wilson Syndrome
Proptosis, Neutropenia OMIM:618150
Isolated Exencephaly
Posterior pituitary agenesis, Proptosis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Proptosis, Anemia, Hepatomegaly OMIM:612301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Elevated circulating C-reactive prot... ORPHA:297
Immunodeficiency 31C
Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Lateral Meningocele Syndrome
Cryptorchidism, Proptosis, Hypertelorism ORPHA:2789
Restrictive Dermopathy 2
Proptosis OMIM:619793
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Small hand, ... OMIM:614947
Noonan Syndrome
Hepatomegaly, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism, Abnormality of the sp... ORPHA:648
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,... ORPHA:508533
Machado-Joseph Disease
Proptosis OMIM:109150
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormal testis morphology, Hypertelorism, Cryptorchi... ORPHA:84
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Large for gestational age, Cryptorchidism,... ORPHA:116
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia, Abnormal circulating osteocalcin level, Proptosis ORPHA:93315
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Otospondylomegaepiphyseal Dysplasia
Proptosis ORPHA:1427
Baller-Gerold Syndrome
Hypertelorism, Proptosis, Failure to thrive in infancy, Hypotelorism ORPHA:1225
20Q11.2 Microduplication Syndrome
Cryptorchidism, Proptosis ORPHA:363659
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Wyburn-Mason Syndrome
Proptosis ORPHA:53719
Antley-Bixler Syndrome
Proptosis, Hypertelorism ORPHA:83
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment OMIM:146500
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Proptosis, Decreased serum leptin OMIM:614008
Alpha-Mannosidosis, Infantile Form
Abnormal circulating enzyme concentration or activity, Pancytopenia, Hypertelorism, Hepatosplenom... ORPHA:309282
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Proptosis ORPHA:1865
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Anemia, Proptosis, Thrombocytopenia ORPHA:163979
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Proptosis ORPHA:1323
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Thanatophoric Dysplasia Type 1
Proptosis ORPHA:1860
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Proptosis OMIM:615803
Melnick-Needles Syndrome
Proptosis, Hypertelorism ORPHA:2484
Distal Deletion 9P
Proptosis, Hypertelorism ORPHA:1642
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Adrenal hypoplasia, Hypertelorism, Cryptorchidism, Proptosis, Abno... ORPHA:264200
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Keppen-Lubinsky Syndrome
Failure to thrive, Proptosis, Decreased serum leptin, Shallow orbits OMIM:614098
Cockayne Syndrome B
Anhidrosis, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve condu... OMIM:133540
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Proptosis, Decreased body weight OMIM:615349
Degcags Syndrome
Hepatomegaly, Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Hypertelori... OMIM:619488
Kniest Dysplasia
Proptosis OMIM:156550
Pfeiffer Syndrome Type 1
Proptosis, Hypertelorism ORPHA:93258
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Polycystic liver disease, Elevated circulating creatinine concentration, Hepati... ORPHA:730
Alternating Hemiplegia Of Childhood
Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno... ORPHA:2131
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Donnai-Barrow Syndrome
Proptosis, Hypertelorism OMIM:222448
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Proptosis, Hypertelorism OMIM:616331
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Proptosis, Hypertelorism ORPHA:251014
Cardiogenic Shock
Elevated circulating creatinine concentration, Confusion ORPHA:97292
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Dysostosis, Stanescu Type
Proptosis, Hypertelorism ORPHA:1798
Shprintzen-Goldberg Syndrome
Cryptorchidism, Failure to thrive, Proptosis, Hypertelorism ORPHA:2462
Apert Syndrome
Hypertelorism, Proptosis, Ovarian neoplasm ORPHA:87
Zygomycosis
Diabetes mellitus, Mediastinal lymphadenopathy, Peritonitis, Hepatitis, Proptosis, Neutropenia, S... ORPHA:73263
Ogden Syndrome
Maternal diabetes, Hypertelorism, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Hyd... OMIM:300855
Desbuquois Dysplasia 2
Truncal obesity, Proptosis OMIM:615777
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Proptosis, Hypertelorism, Shallow orbits OMIM:182212
Doors Syndrome
Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology,... ORPHA:79500
Cole-Carpenter Syndrome 1
Proptosis, Shallow orbits OMIM:112240
Aicardi-Goutières Syndrome
Diabetes mellitus, Hypothyroidism, Low-set ears ORPHA:51
Hemorrhagic Fever-Renal Syndrome
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... ORPHA:340
Machado-Joseph Disease Type 1
Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Proptosis ORPHA:276241
Marbach-Rustad Progeroid Syndrome
Proptosis, Shallow orbits OMIM:619322
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Neu-Laxova Syndrome
Proptosis, Hypogonadism, Hypertelorism ORPHA:2671
Leprechaunism
Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, Protruding ear, Large hands, Hyperald... ORPHA:508
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, ... OMIM:276820
Bohring-Opitz Syndrome
Hypertelorism, Proptosis, Severe failure to thrive, Cholelithiasis, Annular pancreas ORPHA:97297
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis, Delayed puberty ORPHA:90154
Familial Infantile Myoclonic Epilepsy
Proptosis ORPHA:352582
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi... OMIM:619534
Abetalipoproteinemia
Hypothyroidism, Talipes equinovarus ORPHA:14
Robinow Syndrome, Autosomal Recessive 2
Proptosis, Hypertelorism OMIM:618529
Marshall Syndrome
Proptosis, Hypertelorism ORPHA:560
Alg9-Cdg
Hepatomegaly, Hypertelorism, Periportal fibrosis, Hypoplasia of the ovary, Proptosis, Hypoplastic... ORPHA:79328
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Meier-Gorlin Syndrome 7
Cryptorchidism, Proptosis, Breast aplasia, Decreased body weight, Meconium peritonitis OMIM:617063
Primrose Syndrome
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Calcification of the auricula... OMIM:259050
Cornelia De Lange Syndrome 1
Cryptorchidism, Proptosis, Hypoplastic nipples, Thrombocytopenia OMIM:122470
Alagille Syndrome 1
Hypoplasia of the ulna, Hypertriglyceridemia, Hepatocellular carcinoma, Exocrine pancreatic insuf... OMIM:118450
Granulomatosis With Polyangiitis
Weight loss, Granulomatosis, Proptosis, Abnormality of the hypothalamus-pituitary axis, Diabetes ... ORPHA:900
Marfanoid-Progeroid-Lipodystrophy Syndrome
Deeply set eye, Proptosis OMIM:616914
Machado-Joseph Disease Type 3
Proptosis ORPHA:276244
Kabuki Syndrome 1
Prominent fingertip pads, Congenital hip dislocation, Posteriorly rotated ears, Premature thelarc... OMIM:147920
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Loeys-Dietz Syndrome 5
Proptosis, Failure to thrive in infancy, Hypertelorism OMIM:615582
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Hy... OMIM:188400
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... OMIM:309000
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology ORPHA:411629
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Fibrochondrogenesis
Proptosis, Hypertelorism ORPHA:2021
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Proptosis OMIM:215150
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Proptosis, Increased size of nasopharyngeal adenoids, Hypertelorism ORPHA:457395
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormality of hair texture, Tremor, Splenomegaly, Lympha... ORPHA:667
Marshall-Smith Syndrome
Decreased body weight, Bilateral cryptorchidism, Cryptorchidism, Proptosis, Shallow orbits, Failu... OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Deeply set eye, Proptosis, Hypertelorism OMIM:300966
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hypertelorism, Overweight, Jaundice, Obesity, Deeply set eye, Prop... OMIM:619475
Fibrochondrogenesis 1
Proptosis OMIM:228520
Pfeiffer Syndrome Type 2
Proptosis, Hypertelorism ORPHA:93259
Raine Syndrome
Elevated circulating alkaline phosphatase concentration, Proptosis, Hypertelorism OMIM:259775
Apert Syndrome
Cryptorchidism, Proptosis, Hypertelorism, Shallow orbits OMIM:101200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Proptosis, Breast aplasia ORPHA:90153
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Proptosis, Hypertelorism OMIM:245600
Osteoglophonic Dysplasia
Hypertelorism, Cryptorchidism, Proptosis, Shallow orbits, Failure to thrive OMIM:166250
Congenital Myopathy 22B, Severe Fetal
Deeply set eye, Proptosis, Hepatomegaly OMIM:620369
Sclerosteosis 1
Proptosis, Hypertelorism OMIM:269500
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Premature thelarche, Hypertelorism, Bilateral crypto... OMIM:180849
Neu-Laxova Syndrome 2
Proptosis, Hypertelorism OMIM:616038
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Congenital Myopathy 17
Proptosis, Failure to thrive in infancy OMIM:618975
Hypomandibular Faciocranial Dysostosis
Proptosis ORPHA:1790
Pfeiffer Syndrome Type 3
Proptosis, Hypertelorism ORPHA:93260
Kniest Dysplasia
Proptosis ORPHA:485
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis ORPHA:85184
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe failure to thrive, Cryptorchidism, Proptosis, Hypotelorism ORPHA:468631
Dural Sinus Malformation
Proptosis ORPHA:97339
Cherubism
Proptosis, Submandibular lymph node enlargement OMIM:118400
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Hypertelorism, Cryptorchidism, Proptosis, Hypogonadism ORPHA:536471
Campomelic Dysplasia
Proptosis, Hypertelorism ORPHA:140
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Proptosis, Shallow orbits OMIM:620029
Roberts Syndrome
Cryptorchidism, Proptosis, Thrombocytopenia, Hypertelorism ORPHA:3103
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Delirium, Hepatomegaly, Alopecia, Abnormal cent... ORPHA:3385
Atelosteogenesis, Type I
Cryptorchidism, Proptosis, Hypertelorism OMIM:108720
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed puberty, Type I... ORPHA:391487
Axenfeld-Rieger Syndrome, Type 3
Proptosis, Hypertelorism OMIM:602482
Beare-Stevenson Cutis Gyrata Syndrome
Proptosis, Hypertelorism OMIM:123790
Cole-Carpenter Syndrome
Proptosis ORPHA:2050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Robinow Syndrome, Autosomal Dominant 3
Cryptorchidism, Proptosis, Hypertelorism OMIM:616894
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Proptosis, Macrovesicular h... OMIM:619127
Toriello-Lacassie-Droste Syndrome
Failure to thrive, Proptosis ORPHA:3339
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Aicardi-Goutieres Syndrome 7
Hypothyroidism OMIM:615846
X-Linked Intellectual Disability, Snyder Type
Hypertelorism, Cryptorchidism, Proptosis, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Robinow Syndrome
Small for gestational age, Hypertelorism, Cryptorchidism, Proptosis, Decreased serum testosterone... ORPHA:97360
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Conductive hearing i... OMIM:304120
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Proptosis OMIM:207410
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set eye, Proptosis... OMIM:264090
Wolf-Hirschhorn Syndrome
Hypertelorism, Cryptorchidism, Abnormality of the gallbladder, Proptosis, Abdominal situs inversu... ORPHA:280
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Proptosis, Hypertelorism ORPHA:221120
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Rhizomelia, Micromelia, Cryptorchidism, Short ... ORPHA:709
Multicentric Osteolysis, Nodulosis, And Arthropathy
Proptosis, Hypertelorism OMIM:259600
Oculoectodermal Syndrome
Proptosis, Supernumerary nipple, Pineal cyst OMIM:600268
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased testicular size, Proptosis, Shallow orbits ORPHA:435628
Orofaciodigital Syndrome Type 4
Decreased testicular size, Monorchism, Hypertelorism, Primary adrenal insufficiency, Proptosis, F... ORPHA:2753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Broad-based gait, Involuntary movements, Decreased serum iron, Inab... ORPHA:438213
Renal Cysts And Diabetes Syndrome
Biliary tract abnormality, Elevated circulating creatinine concentration, Hyperuricemia, Pancreat... OMIM:137920
Cystinosis, Nephropathic
Diabetes mellitus, Metaphyseal widening, Hypohidrosis, Genu valgum, Primary hypothyroidism, Delay... OMIM:219800
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Hypertelorism, Precocious puberty, Cryptorchidism, B... OMIM:194190
Juvenile Xanthogranuloma
Proptosis, Myeloproliferative disorder ORPHA:158000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Hypertelorism, Large for gestational age, Proptosis, Shallow orbits, Slender build ORPHA:457359
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Enlarged polycystic ov... ORPHA:744
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... ORPHA:99829
Williams Syndrome
Low-set, posteriorly rotated ears, Hallux valgus, Hypogonadotropic hypogonadism, Down-sloping sho... ORPHA:904
Neurofibromatosis Type 1
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Chronic myelogenous leuk... ORPHA:636
Scorpion Envenomation
Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Acute pancreatitis, Trem... ORPHA:466677
Autosomal Recessive Robinow Syndrome
Cryptorchidism, Proptosis, Hypertelorism ORPHA:1507
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis ORPHA:93126
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hypertelorism, Proptosis, Large for gestational age OMIM:617011
Williams-Beuren Syndrome
Hallux valgus, Diabetes mellitus, Down-sloping shoulders, Sensorineural hearing impairment, Early... OMIM:194050
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Proptosis, Hypertelorism OMIM:268310
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Viss Syndrome
Exostosis of the external auditory canal, Contracture of the proximal interphalangeal joint of th... OMIM:619472
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis ORPHA:536467
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Proptosis, Hypertelorism ORPHA:2211
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Congenital hypot... ORPHA:2255
Fontaine Progeroid Syndrome
Absent nipple, Small for gestational age, Hypertelorism, Cryptorchidism, Proptosis, Hypoplastic n... OMIM:612289
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Failure to thrive, Proptosis, Hypertelorism OMIM:130070
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortical c... OMIM:130650
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Proptosis, Abnormality of the gallbladder, Hypertelorism ORPHA:818
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the ear, Long toe, Hyperthy... ORPHA:3455
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Facial palsy, Enlarged lacrimal glands, Enlargement of parot... ORPHA:797
Melnick-Needles Syndrome
Failure to thrive, Proptosis, Hypertelorism OMIM:309350
Sotos Syndrome
Hip contracture, Aganglionic megacolon, Cryptorchidism, Conductive hearing impairment, Bilateral ... ORPHA:821
Frank-Ter Haar Syndrome
Proptosis, Hypertelorism OMIM:249420
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Deeply set eye, Proptosis OMIM:616268
17Q11 Microdeletion Syndrome
Hypertelorism, Precocious puberty, Glomus jugular tumor, Deeply set eye, Elevated circulating par... ORPHA:97685
Johanson-Blizzard Syndrome
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic nipples, Primary... OMIM:243800
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Proptosis, Small for gestational age, Hypertelorism OMIM:208150
Branchioskeletogenital Syndrome
Absent nipple, Proptosis, Hypertelorism ORPHA:1299
Autosomal Dominant Robinow Syndrome
Cryptorchidism, Proptosis, Hypertelorism ORPHA:3107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Proptosis, Decreased body weight OMIM:271640
Holoprosencephaly 2
Adrenal hypoplasia, Hypotelorism, Proptosis, Cyclopia, Diabetes insipidus, Anterior pituitary age... OMIM:157170
Osteogenesis Imperfecta, Type Viii
Proptosis OMIM:610915
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Failure to thrive, Proptosis, Prolonged neonatal jaundice OMIM:210710
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Proptosis OMIM:301022
Catel-Manzke Syndrome
Cryptorchidism, Proptosis, Hypertelorism OMIM:616145
Retinoblastoma
Leukemia, Proptosis, Pineoblastoma ORPHA:790
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Proptosis ORPHA:85199
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Blomstrand Lethal Chondrodysplasia
Proptosis ORPHA:50945
Yunis-Varon Syndrome
Severe failure to thrive, Cryptorchidism, Proptosis, Hypertelorism ORPHA:3472
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Proptosis, Abnormal circulating calcium-phosphate regulating hormone concentration ORPHA:2636
Okamoto Syndrome
Splenomegaly, Proptosis, Hypertelorism ORPHA:2729
Stickler Syndrome
Proptosis, Slender build, Cachexia, Hypertelorism ORPHA:828
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Proptosis, Hypertelorism ORPHA:1519
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Proptosis ORPHA:75565
Norrie Disease
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ea... ORPHA:649
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Proptosis OMIM:210730
Elsahy-Waters Syndrome
Bilateral cryptorchidism, Proptosis, Hypertelorism OMIM:211380
Craniotubular Dysplasia, Ikegawa Type
Proptosis, Hypertelorism OMIM:619727
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Proptosis, Hypertelorism OMIM:180700
Meester-Loeys Syndrome
Proptosis, Hypertelorism OMIM:300989
Cutis Laxa, Autosomal Recessive, Type Ib
Proptosis, Hypertelorism OMIM:614437
Neu-Laxova Syndrome 1
Cryptorchidism, Proptosis, Hypertelorism OMIM:256520
Proboscis Lateralis
Cyclopia, Proptosis, Hypertelorism ORPHA:141099
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... OMIM:619522
Loeys-Dietz Syndrome 1
Proptosis, Hypertelorism OMIM:609192
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypertelorism, Cryptorchidism, Biliary tract abnormality, Proptosis, Shallow or... OMIM:268300
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Proptosis, Hypertelorism OMIM:271665
Yunis-Varon Syndrome
Absent nipple, Small for gestational age, Failure to thrive in infancy, Hypertelorism, Cryptorchi... OMIM:216340
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Loeys-Dietz Syndrome 2
Proptosis, Hypertelorism OMIM:610168
Osteogenesis Imperfecta, Type Vii
Proptosis OMIM:610682
Craniosynostosis And Dental Anomalies
Proptosis, Hypertelorism OMIM:614188
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Proptosis, Deeply set eye, Hypertelorism ORPHA:286
Loeys-Dietz Syndrome 3
Proptosis, Hypertelorism OMIM:613795
Pallister-Killian Syndrome
Supernumerary nipple, Hypertelorism, Cryptorchidism, Obesity, Proptosis OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tpo

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tpo.

No publications found that use IMPC mice or data for Tpo.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tpotm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tpoem1(IMPC)H Indel Mice
Tpotm43820(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tpotm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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