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Gene: Ngf MGI:97321

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nerve growth factor
Synonyms:
Ngfb

Order Alleles

IMPC Data Collections

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

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.

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 Ngf 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 Ngf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type V
Hand tremor OMIM:608654
Hereditary Sensory And Autonomic Neuropathy Type 5
ORPHA:64752

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller ... OMIM:300580
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... OMIM:601419
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... ORPHA:171442
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Gait disturbance, Facial palsy, Progressive ptosis OMIM:164300
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber p... OMIM:161800
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Myasthenic Syndrome, Congenital, 18
Ataxia, Difficulty walking, Ptosis OMIM:616330
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Myasthenic Syndrome, Congenital, 15
Frequent falls, Difficulty walking, Ptosis OMIM:616227
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis OMIM:620086
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... OMIM:618049
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia, Ptosis OMIM:108600
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis OMIM:616304
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... ORPHA:369840
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... ORPHA:1349
Ptosis-Vocal Cord Paralysis Syndrome
Hemiplegia, Severe short stature, Ptosis ORPHA:2997
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral ptosis, Inability to walk, Optic atrophy, Spasticity, Failure to thrive, Downsl... OMIM:619701
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Spastic... ORPHA:251282
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Spinocerebellar Ataxia 50
Ptosis, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tr... OMIM:620158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Short stature, Babinski sign, Ab... ORPHA:363429
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function,... OMIM:610743
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Bilateral ptosis, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:330050
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Intrauterine growth retardation, S... OMIM:618238
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... OMIM:619862
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congesti... ORPHA:367
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow, Ptosis OMIM:606242
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... OMIM:613608
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of f... ORPHA:352447
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia OMIM:255100
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fas... ORPHA:276435
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Ptosis, Difficulty walking, Paralysis OMIM:605285
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema OMIM:611126
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Riboflavin Transporter Deficiency
Optic disc pallor, Ptosis, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal autonomic nervous sys... ORPHA:97229
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Short stature, Spastic tetraplegia, Decreased body weight, Spasticity, Ptosis OMIM:616681
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... ORPHA:401768
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Non-Specific Early-Onset Epileptic Encephalopathy
Ptosis, Ataxia, Short stature, Abnormality of coordination, Involuntary movements, Tremor, Rigidi... ORPHA:442835
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal cranial nerve morphology OMIM:258470
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Waardenburg Syndrome Type 2
Telecanthus, Hypopigmentation of hair, Aganglionic megacolon, Premature graying of hair, White fo... ORPHA:895
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Epicanthus, Failure to thrive, Ataxia OMIM:618951
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Vocal Cord Paralysis And Ptosis
Bilateral ptosis, Vocal cord paralysis OMIM:193240
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk... OMIM:611890
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Ptosis, Short stature, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Abnorma... ORPHA:2057
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... OMIM:617284
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Fatty Acyl-Coa Reductase 1 Deficiency
Short stature, Highly arched eyebrow, Spastic tetraparesis, Inability to walk, Growth delay, Ptosis ORPHA:438178
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Optic atrophy, Premature graying of hair, Hyp... ORPHA:33445
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... OMIM:615352
Cataract-Ataxia-Deafness Syndrome
Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Hypertonia ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... OMIM:614831
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hypertonia, Step... OMIM:609260
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh... OMIM:609015
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Optic atrophy, Frontal upsweep of hair, Spasticity OMIM:300983
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait dist... ORPHA:391417
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Tremor, Gait disturbance ORPHA:101075
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Tremor, Inability to walk, Gait disturbance, Difficult... ORPHA:101077
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Small nail OMIM:619470
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Ptosis OMIM:610542
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card... ORPHA:171433
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Short stature, Obesity, Ptosis ORPHA:171706
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho... ORPHA:2220
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Ptosis, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Trun... OMIM:607483
Coffin-Siris Syndrome 8
Ptosis, Sparse scalp hair, Long eyelashes, Failure to thrive, Thick eyebrow, Hypertrichosis OMIM:618362
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Optic atrophy, Slurred speech, Unsteady gait, Clumsiness, ... ORPHA:137898
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... ORPHA:86812
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Limb dystonia, Intrauterine growth retardation OMIM:620270
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Narrow palpebral fissure, Waddling gait, Inability to walk OMIM:616269
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond... ORPHA:65684
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Failure to thrive, Falls, Ptosis OMIM:616326
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth de... ORPHA:70594
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ptosis OMIM:609283
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance ORPHA:101078
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... OMIM:230500
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Growth delay, Choreoathetosis, Dystonia, Ptosis OMIM:619422
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:300842
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Ataxia, Cachexia, Decreased nerve conduction velocity, Generalized hirsutism, Ptosis ORPHA:1933
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow, Thic... OMIM:615834
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus, Ptosis OMIM:617235
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Spasticity, Ptosis OMIM:125250
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... ORPHA:329284
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, ... ORPHA:52503
Warburg Micro Syndrome 1
Short stature, Optic atrophy, Spastic diplegia, Hypertrichosis, Facial hypertrichosis, Failure to... OMIM:600118
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Optic atrophy OMIM:300928
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun... OMIM:610185
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Optic atrophy, Ataxia ORPHA:329314
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... ORPHA:206594
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... ORPHA:79328
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysmetria, Gait ataxia, Dysdiadochokinesis, Limb dysmetria, Ptosis ORPHA:324262
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Limb fasciculations, Abnorma... ORPHA:90117
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Ptosis, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Gait ataxia OMIM:243180
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Spastic tetraparesis, Growth delay, Spasticity, Ptosis OMIM:616154
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Ptosis OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Machado-Joseph Disease
Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax... OMIM:109150
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Increased body weight, Hand tremor, Upsla... ORPHA:589905
Amyotrophy, Hereditary Neuralgic
Epicanthus, Short stature, Upslanted palpebral fissure, Brachial plexus neuropathy, Blepharophimo... OMIM:162100
Myasthenic Syndrome, Congenital, 16
Ptosis, Bilateral ptosis, Gait disturbance, Periodic paralysis OMIM:614198
Autosomal Recessive Progressive External Ophthalmoplegia
Ptosis, Ataxia, Facial palsy, Optic atrophy, Cogwheel rigidity, Bradykinesia, Shuffling gait, Par... ORPHA:254886
Spinocerebellar Ataxia Type 36
Ptosis, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fascic... ORPHA:276198
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia,... OMIM:619724
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Ataxia, Clonus, Bilateral ptosis, Babinski sign, Abnormal pyramidal sign, Unste... OMIM:616479
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Tremor, Growth delay, Spasticity OMIM:278780
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ptosis, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Prog... ORPHA:284289
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Spinocerebellar Ataxia 28
Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticit... OMIM:610246
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... ORPHA:13
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity ORPHA:99014
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Sclerosteosis
Fingernail dysplasia, Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Cornelia De Lange Syndrome 2
Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Low anterior hairl... OMIM:300590
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Leigh Syndrome
Ataxia, Optic atrophy, Hypertrichosis, Dystonia, Spasticity, Failure to thrive, Ptosis OMIM:256000
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyopa... OMIM:232500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... OMIM:613155
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Hengel-Maroofian-Schols Syndrome
Epicanthus, Thick eyebrow, Short stature, Inability to walk, Synophrys, Tetraplegia, Gait imbalan... OMIM:619641
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Tremor, Sparse eyebrow... OMIM:617988
Myopathy With Extrapyramidal Signs
Epicanthus, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Growth delay, Choreoatheto... OMIM:615673
Birk-Landau-Perez Syndrome
Ptosis, Failure to thrive in infancy, Optic atrophy, Limb ataxia, Growth delay, Choreoathetosis, ... OMIM:617595
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Babinski sign, Optic atrophy, Growth delay, Dystonia, Failure to thrive, Ptosis OMIM:618226
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Diff... OMIM:159950
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Myasthenic Syndrome, Congenital, 23, Presynaptic
Frequent falls, Ptosis OMIM:618197
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Epicanthus, Postnatal growth retardation, Tremor, Synophrys, Spastic diplegia, Obesity, Long eyel... ORPHA:480907
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria... OMIM:607694
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy ORPHA:98896
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Dna2-Related Mitochondrial Dna Deletion Syndrome
Congenital ptosis, Difficulty walking, Slender build, Gait disturbance ORPHA:352470
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apr... OMIM:612438
Behr Syndrome
Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Gait disturbance, Progres... OMIM:210000
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Hemiplegia, Facial palsy, Ptosis ORPHA:2743
Trismus-Pseudocamptodactyly Syndrome
Short stature, Ptosis ORPHA:3377
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Ring Chromosome 1 Syndrome
Telecanthus, Downslanted palpebral fissures, Abnormal hair pattern, Ptosis ORPHA:1437
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia... OMIM:213200
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Ptosis OMIM:612016
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... OMIM:302800
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu... ORPHA:2590
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Leukodystrophy, Hypomyelinating, 20
Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia, Hirsutism, Ptosis OMIM:619071
Autism, Susceptibility To, X-Linked 6
Obesity, Ptosis OMIM:300872
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
4H Leukodystrophy
Dystonia, Short stature, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdi... ORPHA:289494
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... OMIM:614487
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Arthrogryposis, Distal, Type 7
Short stature, Ptosis OMIM:158300
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity, Ptosis OMIM:617664
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ... OMIM:603472
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Short stature, Small for gestational age, Loss of ability to walk in early childhood, Inability t... OMIM:612073
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Cerebral edema OMIM:618321
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titub... OMIM:312080
Fazio-Londe Disease
Facial diplegia, Ptosis OMIM:211500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Short stature, Inability to walk, Babinski sign, Optic... OMIM:615663
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Hypopigmentation of hair, Abn... ORPHA:894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m... OMIM:253800
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Childhood-Onset Nemaline Myopathy
Waddling gait, Clumsiness, Bradykinesia, Facial diplegia, Poor fine motor coordination, Difficult... ORPHA:171439
Proximal Xq28 Duplication Syndrome
Epicanthus, Short stature, Gait disturbance, Blepharophimosis, Ptosis ORPHA:1762
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, D... ORPHA:254892
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Steppage gait, Gait disturbance, Tremor OMIM:118300
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Ptosis OMIM:616322
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst... OMIM:300894
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability... OMIM:218000
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin... OMIM:128100
Wernicke-Korsakoff Syndrome
Ataxia, Ptosis OMIM:277730
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Ptosis OMIM:616321
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Ptosis, Short stature, Synophrys, Blepharophimosis, Thick eyebrow, Frontalis muscle weakness OMIM:210745
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616325
Hec Syndrome
Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis ORPHA:2119
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Borjeson-Forssman-Lehmann Syndrome
Short stature, Obesity, Narrow palpebral fissure, Delayed puberty, Blepharophimosis, Ptosis OMIM:301900
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow, Bila... ORPHA:352490
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Short stature, Ptosis ORPHA:1373
Dermoodontodysplasia
Sparse scalp hair, Abnormal eyelid morphology, Fingernail dysplasia, Trichodysplasia, Toenail dys... ORPHA:1660
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Hypert... OMIM:164310
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdomyolysis, Dilat... OMIM:614921
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, F... OMIM:617523
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulat... OMIM:615838
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic parapares... ORPHA:313772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Pyruvate Dehydrogenase Deficiency
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosi... ORPHA:765
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ptosis, Dystonia, Parkinsonism, Facial palsy, Rigidity, Bilateral ptosis, Babinski sign, Optic at... OMIM:258450
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Coffin-Siris Syndrome 5
Sparse scalp hair, Short stature, Hypoplastic toenails, Low anterior hairline, Dystrophic toenail... OMIM:616938
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Short stature, Sparse eyebrow, Sparse hair, Downslanted palpebral fissures, Ptosis OMIM:619989
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Ptosis OMIM:312170
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... ORPHA:101
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Optic nerve hypoplasia,... OMIM:615280
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Myopathy, Mitral regurgitati... OMIM:212140
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Short stature, Highly arched eyebrow, Tremor, Downslanted palpebral fissures, Ptosis ORPHA:457365
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Abnormal a... OMIM:105210
Spinocerebellar Ataxia 47
Ataxia, Short stature, Chorea, Dysmetria, Spasticity, Ptosis OMIM:617931
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Clumsiness, Facial diplegia, Steppage gait, Fasciculations, Frequent falls, Ptosis ORPHA:521411
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Non-Distal Deletion 10Q
Epicanthus, Ataxia, Synophrys, Upslanted palpebral fissure, Gait disturbance, Ptosis ORPHA:1581
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... ORPHA:52368
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Growth d... ORPHA:3095
Li-Campeau Syndrome
Telecanthus, Short stature, Hypertrichosis, Downslanted palpebral fissures, Thick eyebrow, Ptosis OMIM:619189
Cornelia De Lange Syndrome 5
Telecanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Low a... OMIM:300882
Goldberg-Shprintzen Megacolon Syndrome
Sparse scalp hair, Aganglionic megacolon, Short stature, Sparse eyebrow, Ptosis ORPHA:66629
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Hypertonia, Long eyelashes, Spasticity, Ptosis OMIM:619076
Microcephaly-Capillary Malformation Syndrome
Short stature, Small for gestational age, Spastic tetraparesis, Abnormal hair whorl, Optic atroph... OMIM:614261
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Small for gestational age, Postnatal growth retardation, Low anterior hairline, Lo... ORPHA:73272
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Ptosis ORPHA:1875
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ... OMIM:608836
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Trisomy 5P
Short stature, Obesity, Ptosis ORPHA:1742
Combined Oxidative Phosphorylation Deficiency 7
Ataxia, Optic atrophy, Facial diplegia, Facial paralysis, Failure to thrive, Ptosis OMIM:613559
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... OMIM:615895
Hypotonia-Cystinuria Syndrome
Growth delay, Epicanthus, Failure to thrive, Ptosis ORPHA:163690
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Epicanthus, Tremor, Obesity, Hemiparesis, Hypertonia, Intrauterine growth reta... OMIM:619737
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Short stature, Small for gestational age, Highly arched eyebrow, Postnatal growth ret... OMIM:613792
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aganglionic megacolon, Short stature, Hypertonia, Gait disturba... OMIM:300352
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Epicanthus, Cachexia, Babinski sign, Facial diplegia, ... OMIM:618186
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Optic atrophy, Abnormal pyramidal sign, Impaired tandem gait, Facial d... ORPHA:254930
Spinocerebellar Ataxia 36
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation... OMIM:614153
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Trigeminal Neuralgia
Cranial nerve compression, Allodynia ORPHA:221091
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Neurogenic bladder, Weakness due to upper motor neuro... ORPHA:466722
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Epicanthus, Telecanthus, Sparse eyebrow, Dystonia, Thick eyebrow, Ptosis OMIM:617268
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Acha... ORPHA:3386
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Low posterior hairline, Premature graying of hair, ... ORPHA:2617
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Intrauterine g... OMIM:616801
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Bilateral ptosis, Spasticity, Downslanted palpebral fissures, High anterior hairline OMIM:618859
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity, Ptosis OMIM:618451
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Ataxia-Telangiectasia
Hypopigmentation of hair, Short stature, Ataxia, Tremor, Premature graying of hair, Gait disturba... ORPHA:100
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Congenital Myopathy With Myasthenic-Like Onset
Failure to thrive, Gait disturbance, Ptosis ORPHA:424107
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Obesity, Thick eyebrow, Ptosis ORPHA:444002
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Spastic tetraplegia, Limb hypertonia, Abnormality of extrapyramidal motor function... OMIM:619527
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Tremor, Obe... ORPHA:3077
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Gr... OMIM:614381
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Blepharophimosis, Telecanthus, Obesity, Ptosis OMIM:606772
Brown-Vialetto-Van Laere Syndrome 1
Ptosis, Ataxia, Facial palsy, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculatio... OMIM:211530
Joubert Syndrome 26
Short stature, Ptosis OMIM:616784
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Ptosis, Downslanted palpebral fissures, Clumsiness OMIM:615032
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder, Ataxia, Parkinsonism, Babinski sign, Ptosis OMIM:615911
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Hypotension ORPHA:20
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Mcdonough Syndrome
Short stature, Cachexia, Synophrys, Short palpebral fissure, Ptosis ORPHA:2471
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, ... OMIM:616505
Myopathy, Centronuclear, 2
Waddling gait, Intrauterine growth retardation, Facial palsy, Ptosis OMIM:255200
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Synophrys, Hypertonia, Downslanted palpebral fissures, Ptosis ORPHA:1390
Joubert Syndrome 8
Optic disc pallor, Ataxia, Obesity, Hypertonia, Oculomotor apraxia, Ptosis OMIM:612291
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Bilateral ptosis, Spastic paraplegia, Optic atrophy,... ORPHA:1215
Hypotonia-Cystinuria Syndrome
Facial palsy, Postnatal growth retardation, Long eyelashes, Failure to thrive, Ptosis OMIM:606407
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Myasthenic Syndrome, Congenital, 10
Waddling gait, Ptosis OMIM:254300
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Short stature, Ptosis OMIM:618436
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Curly hair, Fine hair, Sparse hair, Ptosis OMIM:615278
Myasthenic Syndrome, Congenital, 22
Waddling gait, Short stature, Ptosis OMIM:616224
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis, Progressive ... ORPHA:98897
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Facial palsy, Difficulty walking, Frequent falls, Ptosis ORPHA:353327
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth... OMIM:235200
Tetrasomy 12P
Telecanthus, Short stature, Cachexia, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, P... ORPHA:884
Char Syndrome
Thick eyebrow, Highly arched eyebrow, Ptosis OMIM:169100
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Head titubation, Dysmetria, Ankle clonus, Oculomotor apraxia, Failure to th... OMIM:614688
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Ptosis, Epicanthus, Short stature, Delayed puberty ORPHA:1825
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Slender build, Gait disturbance, Ptosis OMIM:615156
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Ptosis OMIM:608930
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Developmental And Epileptic Encephalopathy 84
Epicanthus, Chorea, Babinski sign, Synophrys, Opisthotonus, Dystonia, Blepharophimosis, Spasticit... OMIM:618792
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Wolfram Syndrome 1
Neurogenic bladder, Ataxia, Tremor, Optic atrophy, Growth delay, Ptosis OMIM:222300
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxi... ORPHA:220497
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Ataxia, Dysmetria, Ptosis OMIM:618098
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibrosis ... OMIM:600638
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Tonne-Kalscheuer Syndrome
Broad-based gait, Short stature, Concave nail, Tremor, Fine hair, Growth delay, Small nail, Spast... OMIM:300978
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... OMIM:619738
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Myoclonus, Intention tremor OMIM:610539
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:277720
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Ptosis OMIM:619473
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus, Ptosis OMIM:618225
Joubert Syndrome
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxi... ORPHA:475
2Q23.1 Microduplication Syndrome
Broad-based gait, Highly arched eyebrow, Bilateral ptosis, Poor coordination, Low anterior hairli... ORPHA:313947
Hadziselimovic Syndrome
Epicanthus, Short stature, Low anterior hairline, Failure to thrive, Ptosis OMIM:612946
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Adult Intestinal Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:178487
Autosomal Recessive Ataxia, Beauce Type
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Arm dystonia, ... ORPHA:88644
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Ptosis OMIM:616313
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis, Ataxia, Babinski sign, Dysmetria, Tongue fasciculations, Intention tremor OMIM:618170
Cleft Palate-Large Ears-Small Head Syndrome
Hypoplastic toenails, Short stature, Ptosis ORPHA:2013
Coffin-Siris Syndrome 3
Sparse scalp hair, Short stature, Hirsutism, Hypertrichosis, Long eyelashes, Intrauterine growth ... OMIM:614608
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Anasarca, Thir... OMIM:619573
4Q21 Microdeletion Syndrome
Tremor, Synophrys, Growth delay, Long eyelashes, Intrauterine growth retardation, Generalized hir... ORPHA:238750
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Oromotor apraxia, Frontal upsweep of hair, Blepharophimosis, Spasticity, Failure to t... ORPHA:391372
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... OMIM:614298
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Cerebral ed... OMIM:617713
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Ptosis ORPHA:1067
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Radio-Tartaglia Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Long eyebrows, Tremor, Synophrys, Low anterior hairlin... OMIM:619312
Sweet Syndrome
Small vessel vasculitis, Myositis, Dilated cardiomyopathy ORPHA:3243
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:608931
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Epicanthus, Broad-based gait, Bilateral ptosis, Synophrys, Upslanted palpebral fissur... OMIM:616351
Iatrogenic Botulism
Ptosis, Orthostatic hypotension, Cerebral palsy, Diaphragmatic paralysis ORPHA:254509
Coffin-Siris Syndrome 2
Sparse scalp hair, Absent fifth fingernail, Short stature, Low anterior hairline, Hirsutism, Long... OMIM:614607
Wagr Syndrome
Dysfunction of lateral corticospinal tracts, Short stature, Obesity, Ptosis ORPHA:893
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Short stature, Optic atrophy, Coarse hair, Ptosis ORPHA:1185
Freeman-Sheldon Syndrome
Short stature, Growth delay, Failure to thrive, Downslanted palpebral fissures, Ptosis ORPHA:2053
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis ORPHA:1154
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Epicanthus, Telecanthus, Optic nerve hypoplasia, Facial palsy, Supernumera... ORPHA:261349
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Low anterior hairline, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis OMIM:618736
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu... ORPHA:231226
Joubert Syndrome 35
Telecanthus, Ataxia, Highly arched eyebrow, Synophrys, Oculomotor apraxia, Ptosis OMIM:618161
Wieacker-Wolff Syndrome
Short stature, Facial palsy, High anterior hairline, Upslanted palpebral fissure, Dystonia, Oculo... OMIM:314580
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Short stature, Small for gestational age, Tremor, Truncal obesity, Hyp... OMIM:300957
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Severe short stature, Ptosis OMIM:210700
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short stature, Sparse eyelashes, Blepharophimosis, Postnatal growth retardation, Sparse eyebrow, ... OMIM:613026
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, I... OMIM:617710
Proximal 16P11.2 Microduplication Syndrome
Short stature, Sparse eyelashes, Tremor, Sparse eyebrow, Failure to thrive, Decreased body mass i... ORPHA:370079
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... ORPHA:1170
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Retinal Dystrophy With Leukodystrophy
Waddling gait, Truncal titubation, Bilateral ptosis, Dysmetria, Falls OMIM:618863
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait OMIM:616795
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Combined Oxidative Phosphorylation Deficiency 3
Rhabdomyolysis, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure... OMIM:301069
Autosomal Dominant Optic Atrophy, Classic Form
Ataxia, Spastic paraplegia, Optic atrophy, Hemiparesis, Gait disturbance, Temporal optic disc pal... ORPHA:98673
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... ORPHA:99956
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxi... ORPHA:220493
Noonan Syndrome 5
Curly hair, Epicanthus, Short stature, Large for gestational age, Sparse eyebrow, Fine hair, Smal... OMIM:611553
Mosaic Trisomy 14
Blepharophimosis, Failure to thrive, Ptosis ORPHA:1703
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Distal Duplication 15Q
Hypertonia, Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral fissures, Pt... ORPHA:1707
Legius Syndrome
Epicanthus, Downslanted palpebral fissures, Low posterior hairline, Ptosis OMIM:611431
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Exaggerated startle response, Torticollis, Oculogyric crisis, Babinski sign, Limb tremor,... OMIM:608643
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Noonan Syndrome 6
Curly hair, Epicanthus, Short stature, Long eyebrows, Bilateral ptosis, Low posterior hairline, G... OMIM:613224
Infantile Sialic Acid Storage Disease
Fair hair, Epicanthus, Failure to thrive, Ptosis OMIM:269920
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Ptosis OMIM:613561
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Bilateral ptosis, B... ORPHA:97349
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Ptosis OMIM:605637
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Neonatal Adrenoleukodystrophy
Optic atrophy, Short stature, Ptosis ORPHA:44
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Distal Duplication 6P
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Fine hair, Blepharophimosis, ... ORPHA:1745
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Telecanthus, Obesity, Ptosis ORPHA:397973
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Loss of ambulation, Bilateral ptosis, Bilateral facial palsy, Frequent falls ORPHA:254361
Craniosynostosis 3
Low anterior hairline, Ptosis OMIM:615314
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Ptosis OMIM:619790
Myopathy, Centronuclear, 1
Facial palsy, Ptosis OMIM:160150
Baraitser-Winter Syndrome 2
Telecanthus, Short stature, Highly arched eyebrow, Long palpebral fissure, Ptosis OMIM:614583
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Noonan Syndrome 8
Curly hair, Epicanthus, Short stature, Large for gestational age, Failure to thrive, Downslanted ... OMIM:615355
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Ptosis OMIM:520000
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Postnatal growth retardation, Optic atrophy, Blepharophimosis, Intrauterine growth re... ORPHA:494344
Insulin-Like Growth Factor I Deficiency
Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati... OMIM:608747
Bachmann-Bupp Syndrome
Lower limb spasticity, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational... OMIM:619075
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Aganglionic megacolon, Synoph... ORPHA:3440
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Epicanthus, Optic nerve hypoplasia, Postnatal growth retardation, Bi... ORPHA:300570
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cardiac conduction... ORPHA:255210
Ververi-Brady Syndrome
Short stature, Unsteady gait, Upslanted palpebral fissure, Intention tremor, Intrauterine growth ... OMIM:617982
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu... ORPHA:231214
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Polyhydramnios, Paten... OMIM:619472
Noonan Syndrome 11
Downslanted palpebral fissures, Short stature, Ptosis OMIM:618499
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Short stature, Optic nerve hypoplasia, Postnatal growth retardation, Ble... OMIM:612513
Microphthalmia, Syndromic 13
Short stature, Ptosis OMIM:300915
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Incoordination, Short stature, Ataxia, Low anterior hairline, Upslanted palpebral fis... ORPHA:369891
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Tremor, Optic atrophy, Abnormal pyramidal si... OMIM:612199
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy ORPHA:89842
Intellectual Developmental Disorder, Autosomal Dominant 23
Synophrys, Low anterior hairline, Upslanted palpebral fissure, Downslanted palpebral fissures, Pt... OMIM:615761
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys... OMIM:619293
Baraitser-Winter Syndrome 1
Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Low posterior hai... OMIM:243310
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Facial palsy, Downslanted palpebral fissures, Sparse body hair, Ptosis ORPHA:3068
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Ptosis OMIM:618958
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Epicanthus, Ataxia, Rigidity, Inability to walk, Chorea, Upslanted palpebr... OMIM:300260
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Facial palsy, Inability to walk, Oculomotor apraxia, Spasticity, Ptosis OMIM:301041
Frontoocular Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:605321
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, L... OMIM:208920
Cluster Headache, Familial
Ptosis OMIM:119915
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Optic atrophy, Short stature, Ptosis OMIM:609037
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Schuurs-Hoeijmakers Syndrome
Speech apraxia, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Downslan... OMIM:615009
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Lower limb spasticity, Sparse scalp hair, Abnormal fingernail morphology, Spastic paraplegia, Spa... ORPHA:2824
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Gait disturbance, Failure t... ORPHA:436271
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Long eyelashes, Ptosis OMIM:617301
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Ptosis OMIM:619113
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Joubert Syndrome 37
Short stature, Obesity, Sparse hair, Oculomotor apraxia, Ptosis OMIM:619185
Neurotrophic Keratopathy
Allodynia, Abnormal fifth cranial nerve morphology ORPHA:137596
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations, Ptosis OMIM:619733
Marcus-Gunn Syndrome
Postnatal growth retardation, Unilateral ptosis, Abnormal fifth cranial nerve morphology ORPHA:91412
Congenital Ptosis
Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Congenital facial diplegia, Epicanthu... ORPHA:91411
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... OMIM:135700
Juberg-Hayward Syndrome
Short stature, Highly arched eyebrow, Ptosis OMIM:216100
Joubert Syndrome 14
Epicanthus, Ataxia, Highly arched eyebrow, Optic atrophy, Growth delay, Downslanted palpebral fis... OMIM:614424
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Obesity, M... ORPHA:72
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension OMIM:615688
Hartsfield Syndrome
Intrauterine growth retardation, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Frias Syndrome
Downslanted palpebral fissures, Short stature, Ptosis OMIM:609640
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Growth delay, Pseudobulbar... OMIM:616586
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Blepharophimosis, Epicanthus, Fine hair, Ptosis ORPHA:3236
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Alexander Disease
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturba... ORPHA:58
Facial Paresis, Hereditary Congenital, 3
Unilateral ptosis, Epicanthus, Facial palsy, Lagophthalmos OMIM:614744
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Short stature, Ptosis ORPHA:638
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Tremor, Chorea, Abnormal ... OMIM:606002
Leigh Syndrome
Alopecia, Ataxia, Involuntary movements, Frontal hirsutism, Chorea, Optic atrophy, Spastic dipleg... ORPHA:506
King-Denborough Syndrome
Short stature, Bilateral ptosis, Failure to thrive, Downslanted palpebral fissures, Ptosis OMIM:619542
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Joubert Syndrome 3
Epicanthus, Ataxia, Highly arched eyebrow, Oculomotor apraxia, Ptosis OMIM:608629
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Weight loss, Abnormality of the extraocular ... ORPHA:298
Congenital Myopathy 19
Gait disturbance, Ptosis OMIM:618578
Monosomy 18P
Alopecia, Epicanthus, Generalized dystonia, Short stature, Low posterior hairline, Ptosis ORPHA:1598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Facial palsy, Rigidity, Slurred speech, Hand tremor, Gait ataxia, B... OMIM:157640
Keipert Syndrome
Epicanthus, Aplastic/hypoplastic toenail, Short stature, Ptosis ORPHA:2662
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis OMIM:616324
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Short stature, Lacrimal duct stenosis, Optic atrophy, Growth delay, Dystonia, Ptosis ORPHA:457193
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Sparse eyelashes, Short stature, Supernumerary nipple, Slow-growing hair... OMIM:129400
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplastic fifth toenail, Sparse scalp hair, Short stature, Highly arched eyebrow, Hypoplastic f... OMIM:615866
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Borjeson-Forssman-Lehmann Syndrome
Short stature, Truncal obesity, Sparse hair, Blepharophimosis, Thick eyebrow, Ptosis ORPHA:127
Complex Regional Pain Syndrome
Abnormality of hair growth, Involuntary movements, Slow-growing nails, Allodynia ORPHA:83452
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Tremor, Sparse eyebrow, Epiblepharon, Tip-toe gait, Frontal upsweep o... OMIM:617557
Noonan Syndrome 9
Curly hair, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:616559
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Broad-based gait, Short stature, Cachexia, Abnormal hair pattern, Tremor, Synophrys, ... ORPHA:85293
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Disproportionate short stature, Ptosis ORPHA:2868
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Ptosis ORPHA:3454
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Progressive spasticity, Ptosis OMIM:619972
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetr... OMIM:618527
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Epicanthus, Tremor, Synophrys, Low anterior hairline, Hirsutism, Upslanted palpebral fissure, Fro... OMIM:617061
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyp... OMIM:618056
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Fetal Hydantoin Syndrome
Epicanthus, Hypoplastic fingernail, Short stature, Low posterior hairline, Coarse hair, Intrauter... ORPHA:1912
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Chromosome 5Q12 Deletion Syndrome
Epicanthus, Postnatal growth retardation, Long palpebral fissure, Decreased body mass index, Ptosis OMIM:615668
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Ataxia, Ptosis OMIM:619046
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Upslanted palpebral fissure, Synophrys, Supernumerary nipple, Ptosis OMIM:616083
Frontofacionasal Dysplasia
Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... ORPHA:1791
Myopathy, Mitochondrial, And Ataxia
Ataxia, Short stature, Thick hair, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth dela... OMIM:617675
Ascher Syndrome
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology ORPHA:1253
Richieri-Costa/Guion-Almeida Syndrome
Short stature, Gait ataxia, Eyelid coloboma, Downslanted palpebral fissures, Ptosis OMIM:268850
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... ORPHA:2828
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Short stature, Thick hair, Tremor, Dysmetria, Growth delay, Progressive cerebe... ORPHA:502423
Cardiofaciocutaneous Syndrome
Epicanthus, Brittle hair, Failure to thrive in infancy, Short stature, Slow-growing hair, Abnorma... ORPHA:1340
Arthrogryposis, Distal, Type 5
Epicanthus, Short stature, Hypertonia, Blepharophimosis, Ptosis OMIM:108145
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis OMIM:254210
Terminal Osseous Dysplasia
Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis OMIM:300244
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Abnormal ca... ORPHA:565612
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Blepharophimosis, Intrauterine growth retardation, Downslanted palpe... OMIM:617333
Goldberg-Shprintzen Syndrome
Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Limb hypertonia, Sparse hai... OMIM:609460
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Aganglionic megacolon, Ataxia, Ptosis ORPHA:2318
Coach Syndrome 1
Optic disc pallor, Ataxia, Growth delay, Dystonia, Oculomotor apraxia, Spasticity, Ptosis OMIM:216360
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Optic atrophy,... ORPHA:845
Houge-Janssens Syndrome 1
Ptosis, Intrauterine growth retardation, Downslanted palpebral fissures, Gait ataxia OMIM:616355
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Myasthenic Syndrome, Congenital, 14
Waddling gait, Ptosis OMIM:616228
Fetal Trimethadione Syndrome
Epicanthus, Intrauterine growth retardation, Synophrys, Ptosis ORPHA:1913
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616323
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Optic disc coloboma, Low posteri... ORPHA:2995
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Epicanthus, Telecanthus, Short stature, Thick eyebrow, Highly arched eyebrow, Low pos... OMIM:617360
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis OMIM:605809
Noonan Syndrome 4
Curly hair, Epicanthus, Short stature, Large for gestational age, Sparse eyebrow, Bilateral ptosi... OMIM:610733
Agel Amyloidosis
Ataxia, Facial palsy, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystro... ORPHA:85448
Autosomal Recessive Multiple Pterygium Syndrome
Epicanthus, Telecanthus, Short stature, Multiple pterygia, Abnormal eyelid morphology, Antecubita... ORPHA:2990
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Gait di... OMIM:620098
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Arthrogryposis, Distal, Type 2A
Epicanthus, Telecanthus, Small for gestational age, Abnormal auditory evoked potentials, Postnata... OMIM:193700
Shashi-Pena Syndrome
Epicanthus, Highly arched eyebrow, Synophrys, Hypertrichosis, Limb hypertonia, Long eyelashes, In... OMIM:617190
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Ptosis ORPHA:93262
Benign Schwannoma
Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, Abnormality of per... ORPHA:252164
Rubinstein-Taybi Syndrome
Epicanthus, Telecanthus, Short stature, Failure to thrive in infancy, Highly arched eyebrow, Naso... ORPHA:783
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Myoclonus, Ptosis OMIM:560000
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Short stature, Optic atrophy, Disproportionate short-trunk sho... ORPHA:168549
Myasthenic Syndrome, Congenital, 5
Ptosis OMIM:603034
Congenital Myopathy 1B, Autosomal Recessive
Facial palsy, Ptosis OMIM:255320
Ataxia-Telangiectasia
Conjunctival telangiectasia, Dystonia, Short stature, Ataxia, Tremor, Inability to walk, Abnormal... OMIM:208900
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Crouzon Syndrome
Conjunctivitis, Optic atrophy, Ptosis ORPHA:207
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Difficulty walking, Long palpebral fissure, Ptosis ORPHA:531151
Tyshchenko Syndrome
Short stature, Thick hair, Supernumerary nipple, Low anterior hairline, Intrauterine growth retar... OMIM:615102
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Hypoplastic fingernail, Hypoplastic toenails, Optic atrophy, Low anterior hairline, A... OMIM:220500
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Trisomy 17P
Short stature, Low posterior hairline, Growth delay, Hypertonia, Intrauterine growth retardation,... ORPHA:261290
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Curly hair, Short stature, Slow-growing hair, Absent eyelashes, Optic... OMIM:115150
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ptosis OMIM:617468
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Ptosis OMIM:618155
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Short stature, Hypertrichosis, Ptosis OMIM:247410
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Postnatal growth retardation,... ORPHA:90321
Kury-Isidor Syndrome
Ptosis, Alopecia, Growth delay, Downslanted palpebral fissures, Hypertrichosis OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 57
Epicanthus, Telecanthus, Short stature, Hypertrichosis, Upslanted palpebral fissure, Tip-toe gait... OMIM:618050
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Neutral Lipid Storage Disease With Ichthyosis
Ptosis, Alopecia, Short stature, Ataxia, Obesity, Difficulty walking, Ectropion ORPHA:98907
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Optic atrophy, Difficulty walking, Spasticity, Ptosis OMIM:251900
Wiedemann-Steiner Syndrome
Epicanthus, Telecanthus, Rhizomelia, Short stature, Thick eyebrow, Postnatal growth retardation, ... ORPHA:319182
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Ptosis OMIM:620149
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:615433
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Short stature, Hirsutism OMIM:619318
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Epicanthus, Short stature, Optic nerve hypoplasia, Highly arched eyebrow, Lacrimal du... OMIM:617506
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Babinski sign, Myoclonus, Eversion of lateral third of lower eyelids, Spasticity, ... ORPHA:364028
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Oculomotor apraxia, Short palpebral fissure, Ptosis OMIM:617563
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Low posterior hairline, Ptosis OMIM:616549
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Facial diplegia, Gait disturbance, Ptosis ORPHA:171436
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Short nail, Bilateral ptosis, Unilateral vocal cord paralysis, Optic atrophy, Long eyelashes, Lon... ORPHA:324540
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Short stature, Narrow palpebral fissure, Long eyelashes in irregular rows, Blephar... OMIM:255800
Galloway-Mowat Syndrome 1
Epicanthus, Ataxia, Short stature, Small for gestational age, Optic atrophy, Spastic tetraplegia,... OMIM:251300
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Aarskog-Scott Syndrome
Epicanthus, Short stature, High anterior hairline, Downslanted palpebral fissures, Ptosis ORPHA:915
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Absent ... ORPHA:544488
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Ptosis OMIM:620022
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Ptosis, Epicanthus, Short stature, Highly arched eyebrow, Large for gestational age, Postnatal gr... OMIM:213980
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Intrauterine growth retardation, Failure to thrive, ... ORPHA:2609
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Intrauterine growth ret... ORPHA:2319
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Unsteady gait, Gait ataxia, Downslanted palpebral fissures, Ptosis OMIM:618109
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Fingernail dysplasia, Ptosis ORPHA:1259
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ptosis OMIM:601462
Rhyns Syndrome
Ptosis ORPHA:140976
Myasthenic Syndrome, Congenital, 24, Presynaptic
Oculomotor apraxia, Ptosis OMIM:618198
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Hypertrichosis, Low posterior... OMIM:619087
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Short stature, Intrauterine growth retardation, Generalized hirsutism, P... ORPHA:1915
Joubert Syndrome 7
Oculomotor apraxia, Ataxia, Ptosis OMIM:611560
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Edema, Dehydration ORPHA:79404
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Acrofrontofacionasal Dysostosis 1
Short stature, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, S-shaped palpebral fis... OMIM:201180
Acrofrontofacionasal Dysostosis
Short stature, Eyelid coloboma, Anonychia, Downslanted palpebral fissures, Aplasia/Hypoplasia of ... ORPHA:1784
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Ataxia, Gait ataxia OMIM:613077
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Truncal ataxia, Failure to thrive, Ptosis OMIM:220110
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Ohdo Syndrome
Epicanthus, Short stature, Sparse eyebrow, Blepharophimosis, Ptosis OMIM:249620
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Ataxia, Spasticity, High anterior hairline, Ptosis OMIM:615510
Purpura Simplex
Ptosis OMIM:179000
Congenital Myopathy 22A, Classic
Waddling gait, Bilateral ptosis, Synophrys, Neonatal death, Frequent falls, Downslanted palpebral... OMIM:620351
Mungan Syndrome
Abnormality of the autonomic nervous system, Bilateral ptosis OMIM:611376
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Optic atrophy, A... OMIM:614947
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Opisthotonus, Hypertonia, Severe failure to thrive, Frontal hirsutism, Downsla... ORPHA:3304
Takenouchi-Kosaki Syndrome
Ataxia, Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fiss... OMIM:616737
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Optic atrophy, Ptosis OMIM:616239
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Epicanthus, Telecanthus, Short stature, Sparse eyebrow, Upslanted palpebral fi... OMIM:244450
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Joubert Syndrome With Hepatic Defect
Ataxia, Highly arched eyebrow, Tremor, Optic disc coloboma, Gait disturbance, Oculomotor apraxia,... ORPHA:1454
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Growth delay, Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:618659
Toxin-Mediated Infectious Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Telecanthus, Low posterior hairline, Downslanted palpebral fissures, Ptosis ORPHA:1778
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance, Ptosis ORPHA:98863
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted palpebral fi... ORPHA:73246
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Small nail, Ptosis OMIM:618731
Frontonasal Dysplasia 1
Epicanthus, Widow's peak, Ptosis OMIM:136760
Muenke Syndrome
Downslanted palpebral fissures, Low anterior hairline, Ptosis OMIM:602849
Kallmann Syndrome
Ataxia, Tremor, Obesity, Paraplegia, Gait disturbance, Delayed puberty, Breast hypoplasia, Ptosis ORPHA:478
Postsynaptic Congenital Myasthenic Syndromes
Facial palsy, Ptosis ORPHA:98913
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ptosis, Ataxia, Facial palsy, Babinski sign, Abnormal ... ORPHA:79138
Jacobsen Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio... OMIM:147791
Congenital Disorder Of Glycosylation, Type Iio
Downslanted palpebral fissures, Ptosis OMIM:616828
Hyperlysinemia
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Short stature, Downslanted palpebral fissures, Ptosis ORPHA:2496
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Akinesia, Hand tremor, Growth delay, Upslanted palpebral fissure, Hypertonia, ... OMIM:618947
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Ptosis ORPHA:2511
Ruvalcaba Syndrome
Delayed puberty, Intrauterine growth retardation, Downslanted palpebral fissures, Generalized hir... ORPHA:3121
Arachnoid Cyst
Facial palsy, Paraparesis, Cranial nerve compression, Inability to walk, Slurred speech, Hemipare... ORPHA:2356
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Severe postnatal growth retardation, Facial palsy, Ptosis ORPHA:98905
Acrofrontofacionasal Dysostosis 2
Downslanted palpebral fissures, Widow's peak, Short stature, Ptosis OMIM:239710
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Parkinsonism, Ptosis OMIM:609286
Giant Cell Arteritis
Alopecia, Ataxia, Optic atrophy, Weight loss, Ptosis ORPHA:397
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Tremor, Inability to walk, Chorea... OMIM:615356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypertonia, Ptosis OMIM:615351
Carey-Fineman-Ziter Syndrome
Epicanthus, Short stature, Facial palsy, Growth delay, Downslanted palpebral fissures, Ptosis ORPHA:1358
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Epicanthus, Ataxia, Highly arched eyebrow, Optic disc colobo... OMIM:213300
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Small for gestational age, Short stature, Ataxia, Sparse hair, Downslanted palpebral ... OMIM:300661
Chromosome 18P Deletion Syndrome
Epicanthus, Small for gestational age, Short stature, Dystonia, Ptosis OMIM:146390
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Tremor, Synophrys, Congenital ptosis, Gait ataxia, Slanting of the palpebral fissure,... ORPHA:476126
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail, Ptosis ORPHA:257
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Obesity, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Mucopolysaccharidosis, Type Ii
Papilledema, Severe short stature, Short stature, Hypertrichosis, Mild short stature, Ptosis OMIM:309900
3Mc Syndrome
Telecanthus, Highly arched eyebrow, Supernumerary nipple, Postnatal growth retardation, Blepharop... ORPHA:293843
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis OMIM:608423
X-Linked Mandibulofacial Dysostosis
Epicanthus, Short stature, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1131
Dyskeratosis Congenita, Digenic
Alopecia, Short stature, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Intrauterine growth ... OMIM:620040
Six2-Related Frontonasal Dysplasia
Small for gestational age, Short stature, Intrauterine growth retardation, Epicanthus inversus, P... ORPHA:488437
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Obesity, Narrow palpebral fissure, Long palpebral fissure, Intraute... ORPHA:439822
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Telecanthus, Inability to walk by childhood/adolescence, Low anterior hairline, Chor... OMIM:620224
Saethre-Chotzen Syndrome
Epicanthus, Short stature, Abnormal hair pattern, Optic atrophy, Low anterior hairline, Blepharos... ORPHA:794
Refsum Disease
Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Nail dysplasia, Ptosis ORPHA:773
1P36 Deletion Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Telangiectasia,... ORPHA:1606
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Optic atrophy, Hypertonia, Intrauterine growth retardation, Abnormal number of hair w... OMIM:618164
Miller Fisher Syndrome
Ataxia, Facial palsy, Tetraparesis, Ptosis ORPHA:98919
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Ataxia, Tremor, Paronychia, Alopecia of scalp, Failure to thrive OMIM:201100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal... ORPHA:2526
Polyvalvular Heart Disease Syndrome
Short stature, Ptosis ORPHA:228410
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Facial palsy, Ptosis OMIM:610131
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Ptosis, Telecanthus, Myoclonus, Downslanted palpebral fissures, Sparse lateral ey... ORPHA:314655
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Intrauterine growth retardation, Short stature, Low posterior hairline, Ptosis ORPHA:1323
Aarskog-Scott Syndrome
Short stature, Widow's peak, Delayed puberty, Mild short stature, Failure to thrive, Downslanted ... OMIM:305400
Weiss-Kruszka Syndrome
Ptosis, Epicanthus, Highly arched eyebrow, Downslanted palpebral fissures, Hypoplastic fingernail OMIM:618619
Fountain Syndrome
Epicanthus, Short stature, Synophrys, Thick eyebrow, Ptosis ORPHA:3219
Congenital Myasthenic Syndrome
Waddling gait, Ataxia, Tip-toe gait, Difficulty walking, Frontalis muscle weakness, Ptosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Ataxia, Tip-toe gait, Difficulty walking, Frontalis muscle weakness, Ptosis ORPHA:98914
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Ptosis OMIM:617143
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Short stature, Hooded eyelid, Highly arched eyebrow, Thick hair, Syno... OMIM:610759
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Short stature, Upslanted palpebral fissure, Gait imbalance, Short palpebral fissure, ... OMIM:617159
2Q31.1 Microdeletion Syndrome
Epicanthus, Short stature, Hypoplastic toenails, Abnormal hair morphology, Synophrys, Optic disc ... ORPHA:251014
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Small for gestational age, Lagophthalmos, Bilateral ptosis, Chorea, Inability ... ORPHA:404454
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Branchio-Oculo-Facial Syndrome
Short stature, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Premature graying of h... ORPHA:1297
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Eyelid coloboma, Ptosis ORPHA:1647
Prolidase Deficiency
Failure to thrive, Facial hirsutism, Low posterior hairline, Ptosis OMIM:170100
Distal Deletion 3P
Epicanthus, Telecanthus, Short stature, Blepharophimosis, Intrauterine growth retardation, Spasti... ORPHA:1620
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Aganglionic megacolon, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:613603
Short Stature And Facioauriculothoracic Malformations
Proportionate short stature, Ptosis OMIM:609654
20Q11.2 Microduplication Syndrome
Epicanthus, Palpebral edema, Growth delay, Severe intrauterine growth retardation, Abnormal shape... ORPHA:363659
Buratti-Harel Syndrome
Epicanthus, Small nail, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619314
Orthostatic Hypotension 1
Orthostatic hypotension, Ptosis OMIM:223360
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... OMIM:607872
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Epicanthus, Sparse scalp hair, Short stature, Large for gestational age, Loose anagen... OMIM:607721
Scarf Syndrome
Epicanthus, Low posterior hairline, Hypoplastic nipples, Sparse hair, Downslanted palpebral fissu... ORPHA:3134
Autosomal Dominant Centronuclear Myopathy
Ptosis, Difficulty walking, Large for gestational age ORPHA:169189
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Low posterior hai... OMIM:613563
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis ORPHA:2988
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Facial palsy, Bilateral ptosis, Frequent falls, Ptosis ORPHA:98915
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Telecanthus, Small for gestational age, Supernumerary nipple, Low anterior hairline, Low posterio... OMIM:604314
Diamond-Blackfan Anemia 21
Unilateral ptosis, Short stature, Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebr... OMIM:620072
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... ORPHA:512
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Koolen-De Vries Syndrome
Epicanthus, Fair hair, Small for gestational age, Short stature, Abnormality of hair texture, Ups... OMIM:610443
3Mc Syndrome 1
Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Supernumerary nipple, Postnatal ... OMIM:257920
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Ataxia, Optic neuropathy, Babinski sign, Growth delay, Upslanted palpebral fis... OMIM:252010
Acrocraniofacial Dysostosis
Telecanthus, Short stature, Abnormal fingernail morphology, Abnormal toenail morphology, Downslan... ORPHA:949
Myasthenia Gravis
Facial palsy, Ptosis OMIM:254200
Koolen-De Vries Syndrome
Epicanthus, Hypopigmentation of hair, Short stature, Abnormality of hair texture, Upslanted palpe... ORPHA:96169
Marden-Walker Syndrome
Epicanthus, Postnatal growth retardation, Blepharophimosis, Intrauterine growth retardation, Ptosis OMIM:248700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Hypertonia, Short stature, Ptosis ORPHA:2031
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Facial palsy, Lagophthalmos, Growth delay, Failure to thrive, Downslanted palpebral f... OMIM:254940
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Congenital Disorder Of Deglycosylation 1
Ptosis, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, Myoclonus, D... OMIM:615273
3Mc Syndrome 2
Torticollis, Highly arched eyebrow, Postnatal growth retardation, Blepharophimosis, Epicanthus in... OMIM:265050
Refsum Disease, Classic
Ataxia, Ptosis OMIM:266500
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Babinski sign, Bradykinesia, Dystonia, Failure to thrive, Ptosis OMIM:614924
22Q11.2 Duplication Syndrome
Growth delay, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:1727
Codas Syndrome
Epicanthus, Short stature, Ptosis ORPHA:1458
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Hooded eyelid, Synophrys, Low anterior hairline, Sparse hair, Short statur... OMIM:619841
Craniosynostosis 6
Low anterior hairline, Ptosis OMIM:616602
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Low anterior hairline, Ankle clonus, N... OMIM:613776
Congenital Disorder Of Glycosylation, Type 2V
Epicanthus, Low posterior hairline, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:619493
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Sparse pubic hair, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:110100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Ptosis ORPHA:2522
Joubert Syndrome 30
Ptosis OMIM:617622
Phelan-Mcdermid Syndrome
Epicanthus, Broad-based gait, Palpebral edema, Hypoplastic toenails, Unsteady gait, Long eyelashe... OMIM:606232
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Failure to thrive, Downslanted palpebral fissures, Ptosis OMIM:615829
Wound Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:178475
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse hair, Spasticity, Downslanted palpebral fissures, Ptosis OMIM:616449
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Sparse lateral eyebrow OMIM:619955
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short stature, Ptosis OMIM:606220
Foodborne Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Blepharophimosis, Ptosis ORPHA:2728
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Unsteady gait, Dystonia, Spasticity, Failure to thrive OMIM:615512
Kearns-Sayre Syndrome
Short stature, Ataxia, Ptosis OMIM:530000
Multiple Pterygium Syndrome, Escobar Variant
Epicanthus, Short stature, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pter... OMIM:265000
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Short stature, Poor coordination, Optic atrophy, Spastic diplegia, Low... OMIM:309590
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short stature, Highly arched eyebrow, Supernumerary nipple, Hypoplastic toenails, Synophrys, Lowe... OMIM:616728
Trichohepatoneurodevelopmental Syndrome
Curly hair, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Coarse hair, Long ... OMIM:618268
Myasthenic Syndrome, Congenital, 19
Facial palsy, Ptosis OMIM:616720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Shallow orbits, Long palpebral fissure, Intrauterin... ORPHA:453499
Muenke Syndrome
Hypopigmentation of hair, Ptosis ORPHA:53271
Choreoacanthocytosis
Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Distal amyotrophy, Muscle fiber atrophy ORPHA:2388
Scarf Syndrome
Epicanthus, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair, Down... OMIM:312830
Myopathy, Myofibrillar, 8
Frequent falls, Ptosis OMIM:617258
Emanuel Syndrome
Hooded eyelid, Growth delay, Upslanted palpebral fissure, Intrauterine growth retardation, Failur... ORPHA:96170
Lateral Meningocele Syndrome
Neurogenic bladder, Telecanthus, Short stature, Coarse hair, Downslanted palpebral fissures, Ptosis OMIM:130720
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Foot joint contracture ORPHA:79408
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Clonus, Supernumerary nipple, Sparse eyebrow, Bilateral ptosis, Synophrys, Hyp... ORPHA:477993
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Downslanted palpebral fissures, Optic atrophy, Abnormality of the nail, Ptosis ORPHA:1555
Arthrogryposis, Distal, Type 5D
Ptosis, Short stature, Highly arched eyebrow, Lagophthalmos OMIM:615065
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Epicanthus, Sparse eyebrow, Inability to walk, Difficulty walking, Spasticity,... ORPHA:464738
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Ptosis OMIM:615453
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Postnatal growth retardation, Sparse eyebro... OMIM:605627
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Ptosis OMIM:614175
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Epicanthus inversus, Failure to thrive, Ptosis OMIM:617062
Cornelia De Lange Syndrome 1
Short stature, Curly eyelashes, Highly arched eyebrow, Synophrys, Optic disc coloboma, Optic atro... OMIM:122470
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Epicanthus, Broad-based gait, Obesity, Hemiparesis, Failure to thrive, Downslanted palpebral fiss... ORPHA:369950
3Mc Syndrome 3
Short stature, Highly arched eyebrow, Growth delay, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:248340
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Arthrogryposis, Distal, Type 1A
Short stature, Ptosis OMIM:108120
Coffin-Siris Syndrome
Sparse scalp hair, Postnatal growth retardation, Hypoplastic fifth fingernail, Prominent eyelashe... ORPHA:1465
Char Syndrome
Downslanted palpebral fissures, Supernumerary nipple, Ptosis ORPHA:46627
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Multiple Pterygium-Malignant Hyperthermia Syndrome
Hypoplastic fingernail, Severe short stature, Onychogryposis of fingernail, Hyperconvex fingernai... ORPHA:2215
Dubowitz Syndrome
Ptosis, Epicanthus, Telecanthus, Short stature, Abnormal fingernail morphology, Sparse scalp hair... ORPHA:235
Acro-Renal-Ocular Syndrome
Epicanthus, Aganglionic megacolon, Postnatal growth retardation, Optic disc coloboma, Short palpe... ORPHA:959
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... ORPHA:572333
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Synophrys, Optic atrophy, Up... ORPHA:487796
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Small for gestational age, Lacrimal duct stenosis, Tremor, Sparse eye... ORPHA:506358
Cenani-Lenz Syndrome
Ptosis, Ectropion, Absent fingernail, Downslanted palpebral fissures, Absent toenail ORPHA:3258
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Teebi-Shaltout Syndrome
Telecanthus, Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Spar... OMIM:272950
Holoprosencephaly
Epicanthus, Failure to thrive in infancy, Highly arched eyebrow, Chorea, Synophrys, Optic atrophy... ORPHA:2162
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital fibrosis of... ORPHA:45358
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Short stature, Facial palsy, Bilateral ptosis, Ectropion of lower eyelids, Obesity, U... OMIM:615873
Reni Syndrome
Ataxia, Ptosis OMIM:617575
Lathosterolosis
Epicanthus, Myoclonus, Intrauterine growth retardation, Failure to thrive, Downslanted palpebral ... ORPHA:46059
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Unsteady gait, Growth delay, Choreoathetosis, Hyperkinetic movements, Hypertonia, Myoclonus, Dyst... ORPHA:17
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis ORPHA:1876
Dubowitz Syndrome
Sparse scalp hair, Epicanthus, Telecanthus, Short stature, Postnatal growth retardation, Blepharo... OMIM:223370
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Decreased body weight, Blepharophimosis, High anterior hairline, Down... OMIM:300895
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Weight loss, Slender build, Allodynia, Ptosis OMIM:603041
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Optic nerve hyp... ORPHA:141099
Arthrogryposis, Distal, Type 3
Epicanthus, Short stature, Ptosis OMIM:114300
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia, Ptosis ORPHA:3217
Intellectual Developmental Disorder, Autosomal Dominant 29
Synophrys, Hirsutism, Obesity, Hypertonia, Downslanted palpebral fissures, Short palpebral fissur... OMIM:616078
Cdags Syndrome
Sparse scalp hair, Ptosis, Sparse eyelashes, Sparse eyebrow, Ectropion OMIM:603116
Wolf-Hirschhorn Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Optic atrophy, Low posterior hairline, Intrauterine gr... ORPHA:280
Kbg Syndrome
Telecanthus, Short stature, Synophrys, Low anterior hairline, Low posterior hairline, Long palpeb... OMIM:148050
Van Maldergem Syndrome 2
Epicanthus, Growth delay, Narrow palpebral fissure, Hypoplastic nipples, Blepharophimosis, High a... OMIM:615546
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Epicanthus, Short stature, Bilateral ptosis, Synophrys, Growth delay OMIM:619557
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Growth delay... ORPHA:2072
Abetalipoproteinemia
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Keratoconjunctivitis sicca, Step... ORPHA:14
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Short stature, Long eyelashes in irregular rows, Cachexia, Low anter... ORPHA:800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Short stature, Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebr... OMIM:178110
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Epicanthus, Short stature, Optic disc coloboma, Obesity, Sparse hair, Intrauterine growth retarda... OMIM:617157
Inhalational Botulism
Ptosis, Paralysis ORPHA:254504
Rubinstein-Taybi Syndrome 1
Low anterior hairline, Frontal hirsutism, Short stature, Highly arched eyebrow, Frontal upsweep o... OMIM:180849
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Low posterior hairline, Thin eyebrow, Ptosis OMIM:618000
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Short stature, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnorm... ORPHA:51
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Upslanted palpebral fissure, Ptosis OMIM:619758
Noonan Syndrome 2
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Low posterior hairline, Downslanted palpeb... OMIM:605275
Rhyns Syndrome
Short stature, Ptosis OMIM:602152
Moebius Syndrome
Epicanthus, Facial palsy, Breast aplasia, Blepharitis, Ptosis ORPHA:570
Noonan Syndrome 10
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:616564
Joubert Syndrome 21
Ataxia, Optic atrophy, Megalopapilla, Oculomotor apraxia, Ptosis OMIM:615636
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Short stature, Sparse eyebrow, Synophrys, Ptosis OMIM:309583
Beare-Stevenson Cutis Gyrata Syndrome
Ptosis, Optic atrophy, Small nail, Downslanted palpebral fissures, Hypoplastic fingernail OMIM:123790
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Short stature, Failure to thrive in infancy, Ptosis OMIM:613385
Infant Botulism
Keratoconjunctivitis sicca, Cerebral palsy, Ptosis ORPHA:178478
Pfeiffer Syndrome
Short stature, Ptosis ORPHA:710
Arboleda-Tham Syndrome
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper eyelid edema, Gro... OMIM:616268
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Growth delay, Downslanted palpebral fissures, Short palpebral fissure, Ptosis OMIM:614230
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Telecanthus, Epicanthus, Broad-based gait, Highly arched eyebrow, Large for gestational age, Gait... OMIM:280000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis OMIM:603387
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Epicanthus, Alopecia, Small for gestational age, Postnatal growth retardation, Op... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Epicanthus, Alopecia, Small for gestational age, Postnatal growth retardation, Op... ORPHA:363958
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Conjunctivitis, Ptosis ORPHA:33001
Costello Syndrome
Deep-set nails, Curly hair, Epicanthus, Short stature, Thin nail, Concave nail, Vestibular schwan... OMIM:218040
Smith-Lemli-Opitz Syndrome
Epicanthus, Hypopigmentation of hair, Rhizomelia, Aganglionic megacolon, Short stature, Abnormal ... ORPHA:818
Lateral Meningocele Syndrome
Epicanthus, Downslanted palpebral fissures, Low posterior hairline, Ptosis ORPHA:2789
Acromelic Frontonasal Dysostosis
Telecanthus, Optic nerve hypoplasia, Downslanted palpebral fissures, Onychogryposis, Ptosis OMIM:603671
Multiple Synostoses Syndrome 1
Waddling gait, Aplastic/hypoplastic toenail, Upslanted palpebral fissure, Anonychia, Ptosis OMIM:186500
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Aganglionic megacolon, Short stature, Sparse ... OMIM:308205
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ptosis OMIM:618798
Autosomal Dominant Robinow Syndrome
Epicanthus, Severe short stature, Short stature, Alopecia, Curly eyelashes, Onychogryposis of fin... ORPHA:3107
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Short stature, Downslanted palpebral fissures, Ptosis ORPHA:264200
Van Maldergem Syndrome 1
Epicanthus, Growth delay, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:601390
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral ptosis, Weight loss, Apraxia, Intrauterine growth retardation, Failure to thrive ORPHA:99885
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Short stature, Ptosis OMIM:616723
Pachydermoperiostosis
Abnormal hair quantity, Cerebral palsy, Abnormal fingernail morphology, Abnormal hair pattern, Pt... ORPHA:2796
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Short stature, Abnormal fingernail morphology, Highly arched eyebrow, Thick hair, Hyp... ORPHA:444077
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Growth delay, Keratoconjunctivitis sicca, Thick eyebrow, Ptosis OMIM:616007
Cardiac-Valvular Ehlers-Danlos Syndrome
Short stature, Thick eyebrow, Ptosis ORPHA:230851
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Blepharophimosis, Telecanthus, Short palpebral fissure, Ptosis OMIM:217980
Glycogen Storage Disease Xii
Epicanthus, Short stature, Low posterior hairline, Delayed puberty, Ptosis OMIM:611881
Loeys-Dietz Syndrome 5
Short stature, Failure to thrive in infancy, Growth delay, Long palpebral fissure, Downslanted pa... OMIM:615582
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Intestinal Botulism
Ptosis ORPHA:178481
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Wagro Syndrome
Downslanted palpebral fissures, Obesity, Ptosis OMIM:612469
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Ptosis ORPHA:2712
Aase-Smith Syndrome I
Ptosis OMIM:147800
Nail-Patella Syndrome
Ridged nail, Short stature, Concave nail, Antecubital pterygium, Anonychia, Ptosis OMIM:161200
Acromelic Frontonasal Dysplasia
Telecanthus, Abnormal toenail morphology, Ptosis ORPHA:1827
Coffin-Siris Syndrome 4
Sparse scalp hair, Short stature, Hypertrichosis, Long eyelashes, Intrauterine growth retardation... OMIM:614609
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Fanconi Anemia
Epicanthus, Aganglionic megacolon, Short stature, Abnormal eyelid morphology, Almond-shaped palpe... ORPHA:84
8Q21.11 Microdeletion Syndrome
Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:284160
Loeys-Dietz Syndrome 4
Torticollis, Downslanted palpebral fissures, Ptosis OMIM:614816
Au-Kline Syndrome
Supernumerary nipple, Lagophthalmos, Shallow orbits, Long palpebral fissure, Failure to thrive, D... OMIM:616580
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Short stature, Synophrys, Low anterior hairline, Upslanted palpebral fissure, Blephar... OMIM:616734
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Inability to walk, Growth delay, Shallow orbits, Lo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Inability to walk, Growth delay, Shallow orbits, Lo... ORPHA:352665
Neurofaciodigitorenal Syndrome
Epicanthus, Short stature, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis ORPHA:2673
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Absent nipple, Downslanted palpebral fissures, Ptosis OMIM:104350
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Ptosis OMIM:606851
Congenital Myopathy 17
Downslanted palpebral fissures, Telecanthus, Failure to thrive in infancy, Ptosis OMIM:618975
Congenital Myopathy 13
Telecanthus, Short stature, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fis... OMIM:255995
Arima Syndrome
Growth delay, Optic atrophy, Ataxia, Ptosis OMIM:243910
Lymphedema-Distichiasis Syndrome
Ptosis, Yellow nails, Conjunctivitis, Distichiasis, Ectropion OMIM:153400
Frontorhiny
Epicanthus, Widow's peak, Ptosis ORPHA:391474
Kabuki Syndrome
Short stature, Highly arched eyebrow, Obesity, Long eyelashes, Eversion of lateral third of lower... ORPHA:2322
Duane Retraction Syndrome
Patchy hypopigmentation of hair, Low posterior hairline, Blepharospasm, Blepharophimosis, Short p... ORPHA:233
Cornelia De Lange Syndrome
Short stature, Curly eyelashes, Highly arched eyebrow, Synophrys, Low anterior hairline, Low post... ORPHA:199
Autosomal Recessive Robinow Syndrome
Epicanthus, Alopecia, Upslanted palpebral fissure, Long eyelashes, Disproportionate short-limb sh... ORPHA:1507
Kosaki Overgrowth Syndrome
Xanthelasma, Downslanted palpebral fissures, Ptosis OMIM:616592
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Synophrys, Truncal obesity, Downslanted palpebral fissures, Thick e... ORPHA:529962
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Intrauterine growth retardation, Epicanthus, Ptosis OMIM:619934
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Ataxia, Neonatal death, Spasticity, Failure to thrive, Ptosis OMIM:124000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia, Ptosis ORPHA:1969
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
22Q11.2 Deletion Syndrome
Telecanthus, Epicanthus, Aganglionic megacolon, Short stature, Abnormal eyelid morphology, Optic ... ORPHA:567
Erdheim-Chester Disease
Ptosis, Ataxia, Xanthelasma, Weight loss ORPHA:35687
Ayme-Gripp Syndrome
Sparse scalp hair, Short stature, Upslanted palpebral fissure, Nail dystrophy, Downslanted palpeb... OMIM:601088
Charge Syndrome
Ptosis, Epicanthus, Short stature, Facial palsy, Highly arched eyebrow, Postnatal growth retardat... ORPHA:138
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Ptosis OMIM:146255
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Short stature, Postnatal growth retardation, Hypoplastic fifth finge... OMIM:135900
Cohen-Gibson Syndrome
Epicanthus, Thin nail, Poor coordination, Gait disturbance, Small nail, Downslanted palpebral fis... OMIM:617561
Chromosome 16P13.3 Duplication Syndrome
Epicanthus, Synophrys, Low anterior hairline, Nasolacrimal duct obstruction, Upslanted palpebral ... OMIM:613458
Jacobsen Syndrome
Epicanthus, Ectropion, Short stature, Growth delay, Eyelid coloboma, Intrauterine growth retardat... ORPHA:2308
Neurofibromatosis-Noonan Syndrome
Epicanthus, Short stature, Low posterior hairline, Lisch nodules, Downslanted palpebral fissures,... OMIM:601321
Neuroocular Syndrome
Brittle hair, Short stature, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct o... OMIM:619539
Marden-Walker Syndrome
Severe short stature, Growth delay, Blepharophimosis, Intrauterine growth retardation, Failure to... ORPHA:2461
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Short stature, Optic nerve hypoplasia, Optic disc coloboma, Downslanted palpeb... ORPHA:536471
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Synophrys, Obesity, Downslanted palpebral fissures, Ptosis OMIM:301066
Aniridia 1
Bilateral ptosis, Optic nerve hypoplasia, Ptosis OMIM:106210
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Pre... OMIM:154500
Noonan Syndrome
Abnormal hair quantity, Short stature, Low posterior hairline, Coarse hair, Downslanted palpebral... ORPHA:648
Shprintzen-Goldberg Syndrome
Telecanthus, Failure to thrive, Downslanted palpebral fissures, Ptosis ORPHA:2462
Primary Hepatic Neuroendocrine Carcinoma
Ptosis, Weight loss ORPHA:100085
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Obesity, Ptosis OMIM:614231
Prolactinoma
Abnormal hair quantity, Ptosis, Delayed puberty ORPHA:2965
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Abnormal eyelas... OMIM:619488
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Failure to thrive in infancy, Ptosis ORPHA:228426
Malignant Atrophic Papulosis
Ptosis, Weight loss ORPHA:679
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Tremor, Weight loss, Delayed puberty, Periodic hypokalemic paresis, Ptosis ORPHA:91347
Fetal Akinesia Deformation Sequence 1
Telecanthus, Small for gestational age, Stillbirth, Blepharophimosis, Intrauterine growth retarda... OMIM:208150
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Eyelid coloboma, Downslanted palpebral fissures, Abnormal toenail morphology, Ptosis ORPHA:2211
Shprintzen-Goldberg Craniosynostosis Syndrome
Ptosis, Telecanthus, Downslanted palpebral fissures, Shallow orbits OMIM:182212
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Non-Functioning Pituitary Adenoma
Abnormal hair quantity, Ptosis ORPHA:91349
Kabuki Syndrome 1
Short stature, Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Bilateral pto... OMIM:147920
Branchiooculofacial Syndrome
Telecanthus, Hypoplastic fingernail, Facial palsy, Supernumerary nipple, Postnatal growth retarda... OMIM:113620
Chime Syndrome
Epicanthus, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis ORPHA:3474
Noonan Syndrome 1
Epicanthus, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Low poster... OMIM:163950
Noonan Syndrome With Multiple Lentigines
Growth delay, Intrauterine growth retardation, Short stature, Ptosis ORPHA:500
Myhre Syndrome
Severe short stature, Blepharophimosis, Intrauterine growth retardation, Short palpebral fissure,... ORPHA:2588
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ptosis OMIM:309520
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Intrauterine growth retardation, Short stature, Highly arched eyebrow, Ptosis ORPHA:2282
Smith-Lemli-Opitz Syndrome
Epicanthus, Aganglionic megacolon, Short stature, Growth delay, Hypertonia, Intrauterine growth r... OMIM:270400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Widow's peak, Eyelid coloboma, Ptosis ORPHA:306542
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Sparse hair,... OMIM:618332
Opitz Gbbb Syndrome
Telecanthus, Short stature, Widow's peak, Downslanted palpebral fissures, Ptosis ORPHA:2745
Phace Syndrome
Hemiplegia/hemiparesis, Optic nerve hypoplasia, Abnormality of the orbital region, Ptosis ORPHA:42775
Hunter-Macdonald Syndrome
Short stature, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:611962
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Hooded upper eyelid, Ptosis OMIM:618548
Faciocardiomelic Syndrome
Ptosis, Telecanthus, Short eyelashes, Large for gestational age OMIM:612731
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Alopecia, Short stature, Failure to thrive in infancy, Abnormal fingernail morphology... ORPHA:99413
Mosaic Monosomy X
Epicanthus, Alopecia, Short stature, Failure to thrive in infancy, Abnormal fingernail morphology... ORPHA:99228
Monosomy X
Epicanthus, Alopecia, Short stature, Failure to thrive in infancy, Abnormal fingernail morphology... ORPHA:99226
Turner Syndrome
Epicanthus, Alopecia, Short stature, Failure to thrive in infancy, Abnormal fingernail morphology... ORPHA:881
Pearson Syndrome
Ataxia, Small for gestational age, Postnatal growth retardation, Growth delay, Ptosis ORPHA:699
Wolf-Hirschhorn Syndrome
Epicanthus, Short stature, Small for gestational age, Highly arched eyebrow, Low posterior hairli... OMIM:194190
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Epicanthus, Torticollis, Antecubital pterygium, Popliteal pterygium, Aplasia/Hypoplasia of the na... OMIM:609945
Codas Syndrome
Vocal cord paresis, Short stature, Ptosis OMIM:600373
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Ptosis OMIM:617239
Monosomy 22Q13.3
Epicanthus, Palpebral edema, Hypoplastic toenails, Obesity, Long eyelashes, Thick eyebrow, Ptosis ORPHA:48652
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Holoprosencephaly 4
Ptosis OMIM:142946
Myasthenia Gravis
Ptosis ORPHA:589
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Failure to thrive, Difficulty walking, Ptosis ORPHA:365
Noonan Syndrome 3
Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis OMIM:609942
Diamond-Blackfan Anemia
Epicanthus, Short stature, Small for gestational age, Low anterior hairline, Growth delay, Ptosis ORPHA:124
Myasthenia, Limb-Girdle, Autoimmune
Ptosis OMIM:159400
Joubert Syndrome 5
Oculomotor apraxia, Ataxia, Ptosis OMIM:610188
Primrose Syndrome
Sparse scalp hair, Epicanthus, Short stature, Ataxia, Absent facial hair, Synophrys, Truncal obes... OMIM:259050
Lathosterolosis
Growth delay, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:607330
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Short stature, Ptosis OMIM:620303
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Zygomycosis
Ptosis, Chemosis, Abnormal cranial nerve morphology ORPHA:73263
Okamoto Syndrome
Facial hypertrichosis, Ptosis, Extension of hair growth on temples to lateral eyebrow, Severe pos... ORPHA:2729
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Short stature, Optic atrophy, Obesity, Upslanted palpebral fissure, Lower limb hypert... OMIM:309580
Leopard Syndrome 1
Epicanthus, Short stature, Delayed puberty, Delayed menarche, Ptosis OMIM:151100
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... ORPHA:2363
Pituitary Apoplexy
Ptosis ORPHA:95613
Monosomy 13Q14
Intrauterine growth retardation, Epicanthus, Short stature, Ptosis ORPHA:1587
Cardiospondylocarpofacial Syndrome
Epicanthus, Telecanthus, Short stature, Upslanted palpebral fissure, Failure to thrive, Ptosis OMIM:157800
Mesomelia-Synostoses Syndrome
Mesomelic short stature, Downslanted palpebral fissures, Telecanthus, Ptosis OMIM:600383
Microphthalmia, Syndromic 2
Short stature, Laterally curved eyebrow, Decreased body weight, Blepharophimosis, Spastic parapar... OMIM:300166
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fissure, Ptosis OMIM:618820
Alström Syndrome
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial fibrosis, Hyper... ORPHA:64
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Mild postnatal growth retardation, Growth delay, Hemiparesis, Fragile nails, S... OMIM:150230
Mowat-Wilson Syndrome
Aganglionic megacolon, Short stature, Supernumerary nipple, Downslanted palpebral fissures, Broad... OMIM:235730
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Short stature, Highly arched eyebrow, Trichiasis, Postnatal growth retardation, Pilomatrixoma, Ob... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Short stature, Highly arched eyebrow, Trichiasis, Postnatal growth retardation, Pilomatrixoma, Ob... ORPHA:353277
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Widow's peak, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:1519
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:225400
Good Syndrome
Ptosis ORPHA:169105
Peters-Plus Syndrome
Rhizomelia, Postnatal growth retardation, Birth length less than 3rd percentile, Upslanted palpeb... OMIM:261540
Pallister-Killian Syndrome
Sparse scalp hair, Telecanthus, Epicanthus, Rhizomelia, Sparse eyelashes, Alopecia, Mesomelic/rhi... OMIM:601803
Thrombocytopenia-Absent Radius Syndrome
Short stature, Ptosis OMIM:274000
Kawasaki Disease
Abnormality of nail color, Conjunctivitis, Ptosis ORPHA:2331
Singleton-Merten Syndrome 1
Waddling gait, Short stature, Onycholysis, Decreased body weight, High anterior hairline, Ptosis OMIM:182250
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Broad-based gait, Aganglionic megacolon, Short stature, Inability to walk, Poor fine... ORPHA:261537
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Difficulty walking, Ptosis OMIM:618748
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Telecanthus, Epicanthus, Aganglionic megacolon, Short stature, Highly arched eyebrow, Broad-based... ORPHA:261552
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Short stature, Low anterior hairline, Shallow orbits, Pt... OMIM:101400
Meckel Syndrome, Type 1
Intrauterine growth retardation, Epicanthus inversus, Ptosis OMIM:249000
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Intrauterine growth retardation, Ptosis ORPHA:90348
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Epicanthus, Keratoconjunctivitis sicca, Ptosis ORPHA:285
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Onychogryposis, Ptosis OMIM:161700
Proteus Syndrome
Cachexia, Retinal hamartoma, Generalized hirsutism, Downslanted palpebral fissures, Abnormality o... ORPHA:744
Neuropathy, Hereditary Sensory And Autonomic, Type V
Hand tremor OMIM:608654
Charge Syndrome
Facial palsy, Postnatal growth retardation, Delayed puberty, Downslanted palpebral fissures, Ptosis OMIM:214800
Pallister-Hall Syndrome
Short stature, Large for gestational age, Nail dysplasia, Intrauterine growth retardation, Downsl... ORPHA:672
Vascular Ehlers-Danlos Syndrome
Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Alopecia, Abnormality of hair ... ORPHA:286
Microphthalmia, Syndromic 1
Aganglionic megacolon, Optic disc coloboma, Spastic diplegia, Growth delay, Ptosis OMIM:309800
Craniofacial Microsomia 1
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis OMIM:164210
Hereditary Sensory And Autonomic Neuropathy Type 5
ORPHA:64752

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 Ngf

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 Ngf.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ngftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ngftm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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