Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

ATP-binding cassette, sub-family A (ABC1), member 5
B930033A02Rik,  ABC13

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Abca5 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 Abca5 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Gingival Fibromatosis-Hypertrichosis Syndrome
Ataxia ORPHA:2026
Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia

The table below shows human diseases predicted to be associated to Abca5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Frequent falls, Dystonia, Cardiomyopathy, Myoclonus, Tremor OMIM:619647
Gne Myopathy
Lower limb amyotrophy, Hypothyroidism, Foot dorsiflexor weakness, Weakness of long finger extenso... ORPHA:602
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone, Proptosis OMIM:274300
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Hyperthyroxinemia, Familial Dysalbuminemic
Increased circulating free T4 level, Euthyroid hyperthyroxinemia OMIM:615999
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dys... OMIM:604286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber dia... OMIM:612937
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism, Macroglossia ORPHA:2430
Dilated cardiomyopathy, Muscular dystrophy, Calf muscle hypertrophy, Elevated hepatic transaminas... ORPHA:263494
Thyroid Cancer, Nonmedullary, 1
Goiter, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma OMIM:188550
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Fetal Iodine Syndrome
Hypothyroidism, Hemiplegia/hemiparesis, Spastic diplegia ORPHA:1910
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Myopathy, Distal, 1
Dilated cardiomyopathy, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles... OMIM:160500
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduce... ORPHA:34515
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Graves Disease, Susceptibility To, 1
Congestive heart failure, Graves disease, Goiter, Proptosis, Hyperhidrosis OMIM:275000
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Hemochromatosis Type 2
Dilated cardiomyopathy, Congenital hepatic fibrosis, Diabetes mellitus, Elevated hepatic transami... ORPHA:79230
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Hypothyroidism, Degenerative liver disease OMIM:268040
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transaminase, Cardiomega... OMIM:617713
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Neoplasm of the heart, Junctional ectopic tachycardia ORPHA:3283
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Resting tremor, Congestive heart failure, Facial myokymia, Limb... ORPHA:324588
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Dystonia, Flexion contracture, Ragged-red... OMIM:252011
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Resting tremor, Congestive heart failure, Facial myokymia, Limb... OMIM:606703
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Biventricular hypertrophy,... OMIM:619424
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Jaundice, Macroglossia, Goiter ORPHA:226292
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Bradycardia, Congenital h... ORPHA:95716
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Proptosis ORPHA:3303
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Dystonia, Ataxia, Central hypothyroidism OMIM:616113
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Polyhydramnios, Myopathy, Type 1 fibers relatively smaller than type 2 fi... OMIM:300580
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Progressive spastic paraplegia, Leg muscle stiffness, Abnormal pyramidal sign, Lower limb spastic... ORPHA:320360
Dilated cardiomyopathy OMIM:251220
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Arrhythmia, Congestive heart failure, Hepa... OMIM:602390
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Deeply set eye, Hypothyroidism, Jaundice, Macroglossia, Prolonged neonatal jaundice OMIM:613038
Nemaline Myopathy 3
Dilated cardiomyopathy, Frequent falls, Nemaline bodies, EMG: myopathic abnormalities, Limb muscl... OMIM:161800
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Bradyki... ORPHA:171442
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Joubert Syndrome 26
Panhypopituitarism, Hypertelorism, Decreased response to growth hormone stimulation test, Central... OMIM:616784
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism OMIM:225250
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Re... ORPHA:206559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep... ORPHA:99819
Ascher Syndrome
Goiter, Hypothyroidism, Hypertelorism ORPHA:1253
Endocardial Fibroelastosis
Cryptorchidism, Endocardial fibroelastosis, Cardiomyopathy, Congestive heart failure OMIM:226000
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Macroglossia, Abnormal heart morphology, Transient neonata... ORPHA:99886
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Hypothyroidism, Abnormal mitochondria in muscle tissue ORPHA:663
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function, Skeletal muscle atrophy, Muscular dystrophy, M... OMIM:616827
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Diabetes mellitus, Bicuspid aortic valve, Hypogonadism OMIM:615981
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Hyperthyroidism, Palpitations, Goiter, Tachycardia OMIM:188580
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule, Goiter, Multinodular goiter OMIM:180295
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism, Macroglossia OMIM:274400
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep... ORPHA:424
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Jaundice, Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Frequent falls, Flexion c... OMIM:300718
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Ataxia, Spasticity, Abnormalit... OMIM:614299
Salih Myopathy
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Myopathy, Facial palsy, Centrally nuclea... OMIM:611705
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy, Elevated hepatic transaminase OMIM:619688
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly, Flexion contrac... ORPHA:367
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism, Dextrocardia, Situs inversus totalis OMIM:617577
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Deeply set eye, Dilated cardiomyopathy, Delayed puberty, Hypergonadotropic hypogonadism, Hyperten... ORPHA:280679
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia, Spasticity, Babinski sign, Tremor OMIM:611105
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Cholestasis, Cryptorchidism, Decreased liver function, Hepatomegaly, Abnormal hea... OMIM:608104
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Cryptorchidism, Hydrops fetalis, Hypertrophic cardio... OMIM:618815
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Congestive heart failure, Cryptorchidis... OMIM:610198
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Sinus tachycardia, Increased c... ORPHA:525731
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy OMIM:615184
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Slurred speech, Ataxia, Goiter, Myoclonus OMIM:274240
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Distal amyotrophy, Limb ataxia, Tremor OMIM:617018
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Thyrocerebrorenal Syndrome
Euthyroid goiter, Abnormality of the musculature of the limbs, Myoclonus, Nonprogressive cerebell... ORPHA:3327
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Myopathy, Facial palsy OMIM:602541
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Barth Syndrome
Deeply set eye, Dilated cardiomyopathy, Skeletal myopathy, Arrhythmia, Congestive heart failure, ... OMIM:302060
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Goiter, Hypothyroidism, Hypohidrosis, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Elevated circulating alanin... OMIM:618805
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Motor stereotypy, Cryptorchidism, Joint contracture of the hand, ... ORPHA:352490
Glutaric Aciduria Iii
Goiter, Hyperthyroidism, Hypertension OMIM:231690
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Ventricular ta... OMIM:600649
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Ragged-red muscle fibers, Cogwheel rigidity, Limb muscle weakness, Atrial fibrill... ORPHA:254892
Laing Early-Onset Distal Myopathy
Minicore myopathy, Dilated cardiomyopathy, Foot dorsiflexor weakness, Proximal muscle weakness in... ORPHA:59135
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Blepharochalasis And Double Lip
Goiter OMIM:109900
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism, Tachycardia OMIM:609152
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis ORPHA:35099
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma ORPHA:319487
Rajab Interstitial Lung Disease With Brain Calcifications 2
Deeply set eye, Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Elevated ... OMIM:619013
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Action tremor, Dystonia, Repetitive compulsive ... ORPHA:66634
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Progressive cerebellar... ORPHA:411590
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Tachycardia, Hyperthyroidism, Palpitations OMIM:613239
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Li-Campeau Syndrome
Hypothyroidism, Patent foramen ovale, Cryptorchidism, Atrial septal defect, Ventricular septal de... OMIM:619189
Spastic Paraparesis And Deafness
Spastic paraparesis, Hypogonadism, Tremor OMIM:312910
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Macroglossia, Congenital hypothyr... OMIM:614450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis, Tremor OMIM:158580
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Rhabdomyolysis, Elevated circulating alanine aminotran... OMIM:614921
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Vocal cord paralysis, Progressive cer... ORPHA:98757
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Deeply set eye, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypergonadotropic hyp... OMIM:300845
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Brain-Lung-Thyroid Syndrome
Dystonia, Abnormality of the thyroid gland, Congenital hypothyroidism, Thyroid hemiagenesis, Vent... ORPHA:209905
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Hypothyroidism, Thyroid agenesis, Macroglossia ORPHA:95713
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Thyroid Lymphoma
Goiter, Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis ORPHA:97285
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia, Generalized amyotrophy, Proximal amyotrophy, Facial palsy, Hy... OMIM:615084
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Hip contracture OMIM:615959
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Deeply set eye, Hypothyroidism OMIM:617763
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Skeletal muscle atrophy, Tremor OMIM:614369
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Hypophosphatasia, Childhood
Low alkaline phosphatase, Myopathy, Proptosis OMIM:241510
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Macroglossia, Decreased circulating T4 level, Pro... ORPHA:226316
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Hypothyroidism, Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepat... ORPHA:79319
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Distal amyotrophy, Bab... OMIM:607317
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Myopathy, Cardiomyopathy, Diabetes mellitus, Elevated hepatic tr... OMIM:610717
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy, Hepatomegaly OMIM:609016
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Sclerosing cholangitis, Euthyroid goiter, Has... ORPHA:64744
Bangstad Syndrome
Deeply set eye, Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovari... ORPHA:1227
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Congenital hypothyroidism, Macroglossia, Decreased circulating T4 level, Prolonged n... ORPHA:226313
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:97290
Myopathy, Distal, 4
Skeletal muscle atrophy, Abnormality of the calf musculature, Cardiomyopathy, Myopathy, Distal up... OMIM:614065
Filippi Syndrome
Cryptorchidism, Dystonia, Ventricular septal defect, Proptosis OMIM:272440
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Hepatic steato... ORPHA:99901
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Proptosis, Diastasis recti OMIM:606893
Shashi-Pena Syndrome
Atrial septal defect, Hypertelorism, Proptosis OMIM:617190
Mcleod Syndrome
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Rhabdomyolysis... OMIM:300842
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Hypomimic fa... OMIM:260300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Myopathy, W... ORPHA:352447
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Dystonia, Myoclonus, Tremor OMIM:619651
Bamforth-Lazarus Syndrome
Polyhydramnios, Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Abnormal heart morphology, Spasticity, Clumsiness, Abnormality o... ORPHA:79262
Hyperthyroidism, Familial Gestational
Tachycardia, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating ... OMIM:603373
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Hyper... OMIM:608540
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Spinal muscular atrophy, Calf muscle hypertrophy, Tremor OMIM:615048
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Reduced TSH response to thyrotrophin-releasing hormone stimulatio... OMIM:618573
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Decreased 3-hydroxyacyl-C... OMIM:231530
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Premature ovarian insufficiency, Tremor OMIM:615889
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Atrial septal defect, Limb hypertonia, Babinski sign, Ankle clonus OMIM:301058
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Parkinsonism, Progressive flexion contractures, Focal dystonia, Generalized dysto... ORPHA:98808
Tremor OMIM:231950
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hepatic failure, Congestive heart failu... OMIM:611126
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Alstrom Syndrome
Dilated cardiomyopathy, Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, ... OMIM:203800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Flexion contracture, Cryptorchidism, Hepatomegaly, Diabetes mellitus, Elevated... OMIM:615381
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia, Jaundice, Macroglossia ORPHA:95720
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis OMIM:601420
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Hypothyroidism, Portal hypertension, Cirrhosis, Cardiomegaly, Arrh... ORPHA:465508
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Decreased cervical spine flexion... ORPHA:98855
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Paralysis, Hashimoto thyroiditis, Cerebral vasculitis, Goiter, Myoclonus ORPHA:83601
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Pendred Syndrome
Goiter, Thyroid carcinoma, Hypothyroidism, Hyperparathyroidism ORPHA:705
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Abnormal cardiac septum morphology ORPHA:2370
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Hypothyroidism, Male hypogonadism OMIM:618625
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Action tremor, Dysmetria, Resting tremor, Parkinsonism, Intention tremor, Bradyki... OMIM:300623
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Repetitive compulsive behavior, Flexion contracture, Pulmonary arterial hypertens... ORPHA:391372
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Arrhythmia, Abnormality of the thyroid gland, Th... ORPHA:442
Developmental And Epileptic Encephalopathy 75
Decreased liver function, Prolonged neonatal jaundice, Cardiomyopathy, Hypertelorism, Proptosis OMIM:618437
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Hypertrophic cardiomy... ORPHA:1349
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Hand tremor, Head tremor, Lower limb spasticity, Distal amyotrophy, Speech apraxi... ORPHA:412057
Pontocerebellar Hypoplasia Type 10
Proptosis, Spasticity, Hypertonia ORPHA:411493
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Rhabdomyolysis, Hepatomegaly, Macroglossia, Spasticity OMIM:251900
Proptosis OMIM:148800
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism OMIM:603736
Isolated Biliary Atresia
Hypothyroidism, Cholestasis, Elevated gamma-glutamyltransferase level, Bile duct proliferation, H... ORPHA:30391
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Polyhydramnios, Ventricular septal defect, Arthr... OMIM:607598
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Dy... OMIM:619167
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Spastic tetraparesis, Dystonia, Hypertension, Ascites, Left ventricular hypertrop... OMIM:619487
Proptosis ORPHA:184
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Timothy Syndrome
Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular sep... OMIM:601005
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Hypothyroidism, Opisthotonus, Choreoathetosis, Hepatic steatosis, Spasti... ORPHA:445038
Lig4 Syndrome
Cryptorchidism, Hypotelorism, Hypothyroidism, Telangiectasia OMIM:606593
Nabais Sa-De Vries Syndrome, Type 2
Deeply set eye, Hypothyroidism, Dystonia, Hypoplastic left heart, Polyhydramnios, Chorea, Hemipar... OMIM:618829
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor OMIM:614307
Hemochromatosis, Type 2B
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, Cirrhosis,... OMIM:613313
Hypothyroidism ORPHA:2118
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Decreased 3-hydroxyacyl-C... ORPHA:71212
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Hypothyroidism, Delayed puberty, Hypertelorism ORPHA:2994
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis, Spasticity OMIM:618492
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy, Hypergonadotropic hypogonadism OMIM:212112
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Decreased circu... ORPHA:99832
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hydrops fetali... OMIM:230500
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Hypogonadism, Tremor OMIM:615768
Lymphatic Malformation 6
Chylothorax, Hypothyroidism, Atrial septal defect, Hydrocele testis, Nonimmune hydrops fetalis, S... OMIM:616843
Whipple Disease
Abnormal pyramidal sign, Hypothyroidism, Myositis, Gastrointestinal hemorrhage, Splenomegaly, Ata... ORPHA:3452
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Microcephaly 5, Primary, Autosomal Recessive
Proptosis OMIM:608716
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dysmetria, Dystonia, Abnormality of thyroid physiology, Ataxia, De... ORPHA:289494
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia,... ORPHA:251282
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dy... ORPHA:272
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Congenital hypothyroidism ORPHA:96183
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Dilated cardiomyopathy, Hypersplenism, Hepatosplenomegaly,... ORPHA:231226
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Rhabdomyolysis, Premature pubarche, Dystonia, Spastic tetraplegia, Torsade de poi... OMIM:616878
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Hepatomegaly, Spasticity, Myoclonus, Tremor OMIM:615924
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Flexion contracture, Spastic tetraplegia, Generalized amyotrophy, Athetosis, Spas... OMIM:300523
Juvenile Nasopharyngeal Angiofibroma
Epistaxis, Proptosis, Facial edema ORPHA:289596
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Hepatomegaly, Abno... ORPHA:398124
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Progressive cerebellar ataxia, Insulin-resistant diabetes ... OMIM:210740
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibe... OMIM:255310
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Dilated cardiomyopathy, Elevated aldolase level, Gastrointestinal hemorrhage, Arrhythmia, Congest... ORPHA:732
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Premature Ovarian Failure 10
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:612885
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Allan-Herndon-Dudley Syndrome
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Abnormality of thyroid physiology, Spastic te... ORPHA:59
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Hypothyroidism, Abnormal pyramidal sign, Portal hypertension, Motor stereotypy, Nephrogenic diabe... ORPHA:213
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism, Cholestasis, Hypotension, Hepatomegaly, Abnormal heart mor... ORPHA:85445
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Osteolysis Syndrome, Recessive
Elbow flexion contracture, Proptosis, Knee flexion contracture OMIM:259610
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Distal amyot... OMIM:611302
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Hypothyroidism, Hypotelorism, Cryptorchidism, Gait ataxia, Spasticity, Truncal at... OMIM:616817
Acetazolamide-Responsive Myotonia
Hypothyroidism, Skeletal muscle hypertrophy, Hypertonia ORPHA:99736
Glycogen Storage Disease Iii
Deeply set eye, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transaminase, Distal amy... OMIM:232400
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Ataxia, Testicular atrophy, Cardiomyopathy, Diabetes mellitus... OMIM:222300
Machado-Joseph Disease
Parkinsonism, Dystonia, Fasciculations, Bradykinesia, Facial-lingual fasciculations, Ataxia, Prog... OMIM:109150
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Maffucci Syndrome
Neoplasm of the adrenal cortex, Parathyroid adenoma, Cerebral palsy, Ovarian neoplasm, Pituitary ... ORPHA:163634
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Hepatic failure, Splenomegaly, Ataxia, Hepatomegaly, Gait ataxia, Spasticity, Hep... OMIM:616719
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Multiple joint contractures, Oromandibular dystonia, Bradyk... ORPHA:521406
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormality of the pancreas, Abnormal pineal melatonin secretion, Cholecystitis, ... ORPHA:69665
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Wolff-Parkinson-White syndrome, Ataxia, Ventricular sept... OMIM:614947
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Prolactinoma, Inc... OMIM:102200
Beta-Thalassemia Major
Adrenal insufficiency, Hypothyroidism, Dilated cardiomyopathy, Hypersplenism, Hepatosplenomegaly,... ORPHA:231214
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Abnormality of the liver, Central hypothyroidi... ORPHA:1667
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Abnormal pyramidal sign, Hypothyroidism, Spastic tetraplegia, Abnormality of the gallbladder, Hep... ORPHA:349
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic steatosis, Flexion contracture, Nonimmune hydrops fetalis, Ataxia, Hepato... OMIM:212065
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase, Oromotor apraxia, Tremor ORPHA:300536
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Proptosis OMIM:616171
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Abnormal skeletal muscle morphology, Vocal cord paralysis, Goiter, ... ORPHA:142
Spinocerebellar Ataxia 18
Dysmetria, Skeletal muscle atrophy, Limb muscle weakness, Progressive gait ataxia, Dysdiadochokin... OMIM:607458
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Increased variability in muscle fiber dia... ORPHA:171439
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Arrhythmia, Congestive heart failure, Cholestasis, Elevat... OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Action tremor, Abnormality of the thyroid gland, Hypertension, Diabetes mellitus,... ORPHA:77296
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Arthrogryposis multiplex congenita, Hypertelorism, Proptosis, Hypertonia OMIM:615834
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Deeply set eye, Hypothyroidism, Patent foramen ovale, Predominantly lower lim... ORPHA:293939
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Achilles tendon contracture, Hypothyroidism, Dysmetria, Contra... ORPHA:456312
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Portal hypertension, Hepatosplenomegaly, Cholangitis, Acute hepatic failure, Thyr... ORPHA:228426
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hepatic steatosis, Hyperinsulinemia, Ataxia, Limb dystonia... ORPHA:363400
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Hypothyroidism, Ragged-red muscle fibers, Diabetes mellitus, Concentric hypertrophic cardiomyopat... ORPHA:550
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Abnormality of the liver, Hepatosplenomega... ORPHA:231222
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Arrhythmia, Skeletal muscle atrophy, Hy... ORPHA:96
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid ORPHA:95712
Hypothyroidism, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertelorism, Edema ORPHA:79332
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent fall... OMIM:607155
Machado-Joseph Disease Type 1
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Facial-lingual fasciculations, Vocal ... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Facial-lingual fasciculations, Vocal ... ORPHA:276241
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Polyhydramnios, Ventricular septal defect, Hypothyroidism ORPHA:1923
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Cardiac arrest, Lipid accumulation in hepatocytes, Hy... ORPHA:20
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypohidrosis, Lymphedema, Hypoparathyroidism, Mitral valve prolapse ORPHA:1563
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Per... ORPHA:37553
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Congestive heart failure, Hypopituitarism, Cerebral hemorrhage, ST segment depres... ORPHA:90065
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Stiff Person Spectrum Disorder
Hypothyroidism, Paraspinal muscle hypertrophy, Rigidity, Diabetes mellitus, Exaggerated startle r... ORPHA:3198
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Spastic tetraparesis, Progressive flexion contractures, Skeletal muscle atrophy, Clonus, Proptosis OMIM:617481
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Congenital hypothyroidism OMIM:275100
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Periportal fibrosis, Congenital diaphragmatic hernia, Abnormal heart morphol... OMIM:263210
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Dystonia, Diabetes insipidus, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:225750
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Hypotelorism, Hypothyroidism, Dysmetria, Dilated cardiomyopathy, Cryptorchidism, ... OMIM:616541
Behr Syndrome
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Hamstring contractures, B... OMIM:210000
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hepatic steatosis, Aortic regurgitation, Arrhythmia, Cryptorchidism, Atrial septa... ORPHA:254346
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Cowden Syndrome 5
Hypothyroidism, Intention tremor, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele t... OMIM:615108
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypertelorism, Proptosis, Abnormal cardiac septum morphology OMIM:618354
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Cryptorchidism, Ataxia, Edema, Hypogonadism OMIM:617575
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Hypothyroidism, Dystonia, Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect,... ORPHA:79330
Frontoocular Syndrome
Atrial septal defect, Hypotelorism, Proptosis, Pulmonic stenosis OMIM:605321
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Skeletal muscle atrophy, Spastic paraplegia, Ataxia, Myopathy, Spasticity, Hemipa... ORPHA:98673
Potocki-Lupski Syndrome
Atrial septal defect, Hypothyroidism, Hypertelorism, Patent foramen ovale OMIM:610883
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Reduced systolic function, Ebstein anomaly of the tricuspid valve OMIM:619492
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Bradycardia, Thyroid agenesis, Congenital hypothyroidism, Macroglossia, Elevated ... OMIM:218700
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Proptosis OMIM:608432
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatomegaly, Thyroid... OMIM:235255
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Hypertelorism, Congenital hypothyroidism ORPHA:352530
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Abnormal pyramidal sign, Decreased circulating follicle stimulatin... ORPHA:453533
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Atrial septal defect, Decreased liver fu... OMIM:614300
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality, Tremor ORPHA:79234
Hypothyroidism, Decreased response to growth hormone stimulation test, Elevated hepatic transaminase ORPHA:324737
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Central adrenal insufficiency, Adrenocorticotropin deficient adrenal... ORPHA:91347
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Proptosis OMIM:612247
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis ORPHA:85172
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, T... ORPHA:401923
Cowden Syndrome 6
Hypothyroidism, Intention tremor, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele t... OMIM:615109
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyop... OMIM:619433
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Cardiomyopathy, Elevated hepatic transaminase, Prolonged prothro... OMIM:616483
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Portal hypertension, Hashimoto thyroiditis, Hepatomegaly, Hepatitis, Camptodactyl... OMIM:613385
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Dystonia, Congestive heart failure, Involuntary movements, Hypertrophic c... ORPHA:70474
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb muscle weakness, Lower limb spasticity, Spastic paraplegia, Clonus, Babi... OMIM:600363
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Monosomy 18P
Lymphedema, Hypertension, Generalized dystonia, Hypothyroidism ORPHA:1598
Glycogen Storage Disease Iv
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Hydrops fetali... OMIM:232500
Craniofaciofrontodigital Syndrome
Hypertelorism, Aortic valve stenosis, Abnormal heart valve morphology, Gastrointestinal hemorrhag... ORPHA:363705
Machado-Joseph Disease Type 3
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Facial-lingual fasciculations, Vocal ... ORPHA:276244
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Chronic hepatit... OMIM:269200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Abnormality of the hypothalamus-pituit... ORPHA:300298
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:101077
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure, Thyroid follicular hyperplasia, Elevated circulating gr... OMIM:160980
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Increased intramyocellular lipid droplets, Myoclonus, Tremor OMIM:612016
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Spinocerebellar Ataxia Type 14
Abnormality of the Achilles tendon, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb at... ORPHA:98763
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration OMIM:618999
Tyshchenko Syndrome
Cryptorchidism, Atrial septal defect, Supernumerary nipple, Pulmonic stenosis, Polyhydramnios, Ve... OMIM:615102
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Arrhythmia, Congestive heart failure, Telangiectasia... OMIM:235200
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Frequent falls, Dysmetria, Scapular winging, Mitral regurgitation, Skelet... OMIM:607459
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Aortic regurgitation, Pulmonary insufficie... ORPHA:2326
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy, Ventricular hypertrophy OMIM:613690
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy, Arrhythmia OMIM:612999
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Tremor OMIM:182920
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Myoclonic spasms, Congestive heart failure, Sudden cardiac death, Hyperal... ORPHA:73224
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Foot dorsiflexor weakness, Flexion contracture, Tremor, Limb muscle weakness, Spasticity, Distal ... OMIM:609260
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Cryptorchidis... ORPHA:95496
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Dysmetria, Hepatic steatosis, Flexion contracture, Ataxia, Hepatomegaly, Diabetes... OMIM:616263
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Ataxia, Hepatomegaly... ORPHA:87876
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Spasticity, Proptosis, Hypertonia OMIM:615803
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Frias Syndrome
Hypertelorism, Proptosis OMIM:609640
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Macrovesicul... OMIM:608836
Interstitial Lung And Liver Disease
Hypothyroidism, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:615486
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Aortic regurgitation, Arrhythmia, Co... ORPHA:75566
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Proptosis, Ventric... ORPHA:1425
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Hypothyroidism, Hypohidrosis, Cryptorchidism, Atrial septal defect, ... ORPHA:363528
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis, Hypertension, Congenital diaphragmatic hernia OMIM:166300
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Orthostatic hypotension, Resting tremor, Tremor OMIM:616710
Seckel Syndrome 7
Hypotelorism, Central hypothyroidism OMIM:614851
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Telangiectasia, Retinal neovascularization, Compensated hypothyroidi... ORPHA:247691
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Hypomimic face, Torticollis, Tremor OMIM:128235
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Hepatomegaly, Arrhythmia ORPHA:35
Pontocerebellar Hypoplasia, Type 3
Proptosis, Spasticity OMIM:608027
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Type 2 muscle fiber predominance, Myoclonus, Tremor OMIM:619028
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypertelorism, Proptosis OMIM:618577
Omenn Syndrome
Hypothyroidism, Splenomegaly, Hepatomegaly, Thyroiditis, Edema ORPHA:39041
Mucosal telangiectasiae, Polycystic ovaries, Skeletal muscle atrophy, Ataxia, Telangiectasia of t... ORPHA:100
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Rhabdomyolysis, Dystonia, Patent foramen ovale, Hepatomegaly, Ataxia, Con... OMIM:610505
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Rig... OMIM:115197
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Medullary thyroid carcinoma, Parathyroid adenoma, Pheochromocytoma, H... OMIM:171400
Optic Pathway Glioma
Precocious puberty, Proptosis ORPHA:2086
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Mccune-Albright Syndrome
Abnormal endocrine physiology, Cholestasis, Goiter, Increased serum testosterone level, Abnormali... ORPHA:562
Dyssegmental Dysplasia With Glaucoma
Elbow flexion contracture, Proptosis, Hip contracture OMIM:601561
Stickler Syndrome Type 1
Proptosis, Mitral valve prolapse ORPHA:90653
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, ST segment elevation, Ventricular fibrillation, Foot dorsiflexor ... ORPHA:263297
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Progressive distal muscular atrophy, Tongue fasciculations, Facia... OMIM:159950
Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy OMIM:613876
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Dystonia, Arrhythmia, Abnormal EKG, Involuntary movements, EMG: myopathic abnorma... ORPHA:480864
Donohue Syndrome
Hyperinsulinemia, Skeletal muscle atrophy, Cholestasis, Pancreatic islet-cell hyperplasia, Ovaria... OMIM:246200
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Thenar muscle atrophy, Proptosis ORPHA:157965
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Proptosis, Flexion contracture, Spasticity, Hypertonia OMIM:618346
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Thanatophoric Dysplasia
Atrial septal defect, Polyhydramnios, Proptosis, Increased nuchal translucency ORPHA:2655
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Cowden Syndrome 1
Hypothyroidism, Intention tremor, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, Thyroiditis, ... OMIM:158350
Acrocardiofacial Syndrome
Tetralogy of Fallot, Cryptorchidism, Atrial septal defect, Hyperthyroidism, Mitral stenosis, Vent... ORPHA:2008
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Hypertelorism, Proptosis OMIM:616331
Metaphyseal Chondrodysplasia, Jansen Type
Elevated circulating alkaline phosphatase concentration, Knee flexion contracture, Hypoparathyroi... OMIM:156400
Ichthyosis, Congenital, Autosomal Recessive 4B
Rigidity, Proptosis OMIM:242500