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Gene: Stambp MGI:1917777

Gene Summary

Name:

STAM binding protein

Synonyms:

5730422L11Rik, Amsh, 5330424L14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Stambp^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
shortened QT interval	Stambp^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.06×10^-05
increased startle reflex	Stambp^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.26×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	50% (1 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	100% (1 of 1)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	100% (1 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	100% (1 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	100% (1 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	100% (1 of 1)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	100% (1 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	100% (1 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Adult LacZ

LacZ Images Wholemount

21 Images

View images

MicroCT E18.5

Embryo reconstruction

4 Images

View images

Human diseases caused by Stambp 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.

Human diseases associated with Stambp (1 diseases)
Human diseases predicted to be associated with Stambp (936 diseases)

The table below shows human diseases associated to Stambp by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly-Capillary Malformation Syndrome		Short stature, Cerebral atrophy, Ptosis	OMIM:614261

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

Disease	Matching phenotypes	Source
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Ptosis-Vocal Cord Paralysis Syndrome	Severe short stature, Ptosis	ORPHA:2997
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:620086
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum, Ptosis	OMIM:618197
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Myasthenic Syndrome, Congenital, 15	Ptosis	OMIM:616227
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Myasthenic Syndrome, Congenital, 8	Ptosis	OMIM:615120
2p15-16.1 microdeletion syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	DECIPHER:70
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Myasthenic Syndrome, Congenital, 18	Ptosis	OMIM:616330
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Vocal Cord Paralysis And Ptosis	Bilateral ptosis	OMIM:193240
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Telecanthus, Short stature, Ptosis	OMIM:616681
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Spastic Ataxia 1, Autosomal Dominant	Ptosis, Dystonia	OMIM:108600
Oculopharyngeal Muscular Dystrophy 1	Ptosis, Progressive ptosis	OMIM:164300
Trismus-Pseudocamptodactyly Syndrome	Short stature, Ptosis	ORPHA:3377
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis	ORPHA:126
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Intrauterine growth retardation, Short stature, Thick eyebrow, Ptosis	OMIM:606242
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho...	ORPHA:2220
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Choreoathetosis, Dystonia, Intrauterine growth retardation, Agenesis of corpus c...	OMIM:618238
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Segawa Syndrome, Autosomal Recessive	Tremor, Ptosis, Limb dystonia	OMIM:605407
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Cerebral atrophy, Ptosis	OMIM:618637
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Highly arched eyebrow, Cerebral atrophy, Growth delay, Cerebellar vermis atrophy, Ptosis	OMIM:616154
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Bilateral ptosis, Dyston...	ORPHA:330050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Short stature, Highly arched eyebrow, Growth delay, Ptosis	ORPHA:438178
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Unilateral ptosis, Unilateral narrow palpebral fissure	OMIM:182875
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Growth delay, Short stature, Ptosis	ORPHA:171706
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Epicanthus, Horizontal eyebrow, Ptosis	OMIM:619311
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Short stature, Ptosis	ORPHA:1373
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Epicanthus, Short stature, Sparse eyebrow, Agenesis of corpus callosum, Downslanted palpebral fis...	OMIM:619989
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Head tremor, Dystonia, Ptosis	ORPHA:101109
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Action tremor, Head tremor, Cerebellar vermis atrophy, Ptosis	OMIM:620158
Amyotrophy, Hereditary Neuralgic	Epicanthus, Short stature, Axonal degeneration, Upslanted palpebral fissure, Blepharophimosis, Pt...	OMIM:162100
Arthrogryposis, Distal, Type 7	Short stature, Ptosis	OMIM:158300
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Postural tremor, Atrophy/Degeneration affecting the brainstem, P...	OMIM:619862
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Short stature, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:2057
Cornelia De Lange Syndrome 2	Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Long eyelashes, In...	OMIM:300590
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Ptosis	OMIM:619972
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Ptosis	OMIM:617732
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis	OMIM:192800
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Epicanthus, Telecanthus, Sparse eyebrow, Cerebral atrophy, Dystonia, Thick eyebrow, Ptosis	OMIM:617268
Coffin-Siris Syndrome 8	Cerebral atrophy, Long eyelashes, Thick eyebrow, Ptosis	OMIM:618362
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Arthrogryposis, Distal, Type 2B3	Downslanted palpebral fissures, Short stature, Ptosis	OMIM:618436
Joubert Syndrome 36	Highly arched eyebrow, Ptosis	OMIM:618763
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Upslanted palpebral fissure, Int...	OMIM:615834
Ring Chromosome 1 Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1437
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Craniosynostosis 3	Partial agenesis of the corpus callosum, Ptosis	OMIM:615314
Autism, Susceptibility To, X-Linked 6	Ptosis	OMIM:300872
Baraitser-Winter Syndrome 2	Telecanthus, Short stature, Highly arched eyebrow, Long palpebral fissure, Agenesis of corpus cal...	OMIM:614583
Spinocerebellar Ataxia, Autosomal Recessive 31	Tremor, Cerebral atrophy, Growth delay, Choreoathetosis, Dystonia, Ptosis	OMIM:619422
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cerebral atrophy,...	OMIM:611890
Autosomal Dominant Spastic Ataxia Type 1	Tremor, Ptosis, Abnormal eyelid morphology, Dystonia	ORPHA:251282
Multiple Endocrine Neoplasia Type 1	Melena, Hypertension, Shortened QT interval, Hematemesis	ORPHA:652
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Short stature, Highly arched eyebrow, Tremor, Downslanted palpebral fissures, Ptosis	ORPHA:457365
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia, Ptosis	OMIM:619724
Proximal Xq28 Duplication Syndrome	Blepharophimosis, Epicanthus, Short stature, Ptosis	ORPHA:1762
Spinocerebellar Ataxia, Autosomal Recessive 13	Tremor, Cerebellar atrophy, Short stature, Ptosis	OMIM:614831
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Epicanthus, Short stature, Synophrys, Cerebral atrophy, Dystonia, Thick eyebr...	OMIM:619641
Joubert Syndrome 26	Short stature, Ptosis	OMIM:616784
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular...	OMIM:600638
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Ptosis, Torticollis, Dystonia	OMIM:619071
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Cerebral cortical atrophy, Ptosis	OMIM:617070
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Laryngeal dystonia, Ventricular arrhythmia, Prolonged QT inte...	ORPHA:36913
Frias Syndrome	Downslanted palpebral fissures, Short stature, Ptosis	OMIM:609640
Borjeson-Forssman-Lehmann Syndrome	Short stature, Narrow palpebral fissure, Delayed puberty, Blepharophimosis, Ptosis	OMIM:301900
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Congenital ptosis	OMIM:254190
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Cerebral atrophy, Ptosis	ORPHA:2958
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Cerebellar atrophy, Ptosis	OMIM:612016
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Ptosis, Epicanthus, Short stature, Delayed puberty	ORPHA:1825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ptosis	OMIM:609283
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Ptosis, Increased cerebral lipofuscin, Intention tremor	OMIM:610539
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Cerebral atrophy, Choreoathetosis, Dystonia, Agenesis of corpus callosum, Ptosis	OMIM:312170
Char Syndrome	Thick eyebrow, Highly arched eyebrow, Ptosis	OMIM:169100
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Epicanthus, Almond-shaped palpebral fissure, Synophrys, Hand tremor, Upslanted palpebral fissure,...	ORPHA:589905
Fibrosis Of Extraocular Muscles, Congenital, 1	Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph...	OMIM:135700
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis	OMIM:258470
Prieto Syndrome	Epicanthus, Cerebral atrophy, Ptosis	OMIM:309610
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, Ptosis	OMIM:614198
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Tremor, Growth delay, Dystonia, Ptosis	ORPHA:70594
Parkinsonism-Dystonia 2, Infantile-Onset	Tremor, Ptosis, Oculogyric crisis, Dystonia	OMIM:618049
4Q21 Microdeletion Syndrome	Tremor, Synophrys, Growth delay, Long eyelashes, Intrauterine growth retardation, Agenesis of cor...	ORPHA:238750
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:277720
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Bilateral ptosis, Downslanted palpebral fissures, Cerebral cortical atrophy	OMIM:618859
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Ptosis	OMIM:300580
Spinocerebellar Ataxia 28	Cerebellar atrophy, Ptosis, Dystonia	OMIM:610246
Hypotonia-Cystinuria Syndrome	Growth delay, Epicanthus, Ptosis	ORPHA:163690
Li-Campeau Syndrome	Telecanthus, Short stature, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:619189
Trisomy 5P	Short stature, Ptosis	ORPHA:1742
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Laryngeal dystonia	ORPHA:94090
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Blepharophimosis, Telecanthus, Ptosis	OMIM:606772
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Cerebral atrophy, Neur...	ORPHA:309246
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616326
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Focal dystonia, Limb dystonia, Ptosis	ORPHA:101150
Warburg Micro Syndrome 1	Agenesis of corpus callosum, Short stature, Cerebral atrophy, Ptosis	OMIM:600118
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Ptosis	OMIM:245348
Microphthalmia, Syndromic 13	Short stature, Ptosis	OMIM:300915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ptosis	OMIM:617069
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Sparse lateral eyebrow, Pt...	OMIM:619955
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis	OMIM:616321
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Agenesis of corpus callosum, Lateral ventricle dilatation, Downslanted palpebral fissures, Ptosis	OMIM:618736
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Short stature, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis	OMIM:210745
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Cluster Headache, Familial	Ptosis	OMIM:119915
Ascher Syndrome	Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology	ORPHA:1253
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:615433
Progressive Hemifacial Atrophy	Ptosis	ORPHA:1214
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure...	OMIM:301069
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Growth delay, Brain atrophy, Dystonia, Ptosis	OMIM:618226
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Deafness, X-Linked 7	Telecanthus, Thick eyebrow, Ptosis	OMIM:301018
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Growth...	OMIM:613792
Cornelia De Lange Syndrome 5	Telecanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Long ...	OMIM:300882
Hartsfield Syndrome	Intrauterine growth retardation, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	ORPHA:3038
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Dystonia	OMIM:312750
Wernicke-Korsakoff Syndrome	Ptosis	OMIM:277730
Noonan Syndrome 11	Downslanted palpebral fissures, Short stature, Ptosis	OMIM:618499
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	ORPHA:1390
Neurofibromatosis-Noonan Syndrome	Downslanted palpebral fissures, Short stature, Ptosis	ORPHA:638
Cleft Palate-Large Ears-Small Head Syndrome	Short stature, Ptosis	ORPHA:2013
11Q22.2Q22.3 Microdeletion Syndrome	Epicanthus, Thick eyebrow, Ptosis	ORPHA:444002
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Cerebral atrophy, Intention tremor, Cerebellar vermis atrophy, Ptosis	OMIM:618170
Frontoocular Syndrome	Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:605321
Myasthenic Syndrome, Congenital, 22	Short stature, Ptosis	OMIM:616224
Coffin-Siris Syndrome 5	Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis	OMIM:616938
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dilated cardiomyopathy, Action tremor, Dystonia	ORPHA:66634
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Ptosis	OMIM:619790
Mcdonough Syndrome	Synophrys, Short stature, Short palpebral fissure, Ptosis	ORPHA:2471
Hyperekplexia 3	Exaggerated startle response, Syncope	OMIM:614618
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Ptosis	ORPHA:83619
Oculopharyngodistal Myopathy 2	Ptosis	OMIM:618940
Fazio-Londe Disease	Ptosis	OMIM:211500
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Ptosis	ORPHA:1875
Birk-Landau-Perez Syndrome	Growth delay, Choreoathetosis, Upslanted palpebral fissure, Long eyelashes, Dystonia, Intrauterin...	OMIM:617595
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Dystonia, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopath...	OMIM:616878
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Disproportionate short stature, Ptosis	ORPHA:2868
Juberg-Hayward Syndrome	Short stature, Highly arched eyebrow, Ptosis	OMIM:216100
Myasthenic Syndrome, Congenital, 12	Ptosis	OMIM:610542
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Ptosis	OMIM:301830
Ophthalmoplegia, External, And Myopia	Ptosis	OMIM:311000
Neuropathy, Hereditary Motor And Sensory, Russe Type	Ptosis	OMIM:605285
Proteus Syndrome	Limbal dermoid, Downslanted palpebral fissures, Ptosis	OMIM:176920
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia, Dystonia	ORPHA:480864
Baraitser-Winter Syndrome 1	Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Long palpebral fi...	OMIM:243310
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Short stature, Ptosis	OMIM:608747
Spinocerebellar Ataxia 47	Short stature, Cerebellar vermis atrophy, Ptosis	OMIM:617931
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Developmental And Epileptic Encephalopathy 84	Epicanthus, Synophrys, Opisthotonus, Dystonia, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:618792
Distal Duplication 15Q	Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis	ORPHA:1707
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Tremor, Cerebral atrophy, Brain atrophy, Downslanted palpebral fissures, Ptosis	ORPHA:442835
Spinocerebellar Ataxia With Epilepsy	Tremor, Ptosis, Dystonia	ORPHA:254881
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis	ORPHA:228396
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Ptosis, Tortuosity of conjunctival vessels, Intention tremor	ORPHA:284289
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,...	OMIM:170390
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Myasthenic Syndrome, Congenital, 4B, Fast-Channel	Ptosis	OMIM:616324
Oculopharyngeal Muscular Dystrophy	Ptosis	ORPHA:270
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Choreoathetosis, Dystonia, Ptosis	OMIM:617664
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Ptosis	OMIM:607684
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis	ORPHA:330054
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Epicanthus, Cerebral atrophy, Intrauterine growth retardation, Downslanted palpebral fissures, Gl...	OMIM:616801
Freeman-Sheldon Syndrome	Growth delay, Downslanted palpebral fissures, Short stature, Ptosis	ORPHA:2053
Myoclonus, Intractable, Neonatal	Athetosis, Ptosis	OMIM:617235
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ptosis, Cerebral atrophy, Action tremor	ORPHA:254886
Intellectual Developmental Disorder, Autosomal Dominant 56	Upslanted palpebral fissure, Pontocerebellar atrophy, Lateral ventricle dilatation, Dystonia, Ptosis	OMIM:617854
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Growth delay, Blepharophimosis, Intrauterine growth retardation, Downslanted palpe...	OMIM:617333
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ptosis, Short stature, Dystonia	OMIM:252011
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Ptosis	OMIM:616602
Frontofacionasal Dysplasia	Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner...	ORPHA:1791
Legius Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611431
Stiff-Person Syndrome	Hypertension, Exaggerated startle response, Tachycardia, Opisthotonus	OMIM:184850
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	Ptosis	OMIM:616322
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616325
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Congenital bilateral ptosis, Severe postnatal growth...	ORPHA:73272
Fibrosis Of Extraocular Muscles, Congenital, 2	Bilateral ptosis, Congenital fibrosis of extraocular muscles	OMIM:602078
Oculopharyngodistal Myopathy 3	Tremor, Ptosis	OMIM:619473
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Torticollis, Ptosis	OMIM:618155
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Ptosis, Dystonia	OMIM:614487
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Blepharophimosis, Telecanthus, Ptosis	ORPHA:397973
Intellectual Developmental Disorder With Autism And Macrocephaly	Downslanted palpebral fissures, Ptosis	OMIM:615032
Purpura Simplex	Ptosis	OMIM:179000
Myasthenic Syndrome, Congenital, 10	Ptosis	OMIM:254300
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis	ORPHA:2743
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Bilateral ptosis, Atrophy/Degeneration affecting the brainstem, Cerebral cort...	OMIM:616479
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Ptosis	ORPHA:324262
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Tremor, Shortened PR interval, Impaired myocardial contractility, Second d...	ORPHA:79102
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Ptosis	OMIM:610743
Riboflavin Transporter Deficiency	Tremor, Cerebral cortical atrophy, Ptosis	ORPHA:97229
Mitochondrial Complex I Deficiency, Nuclear Type 4	Brain atrophy, Ptosis	OMIM:618225
Terminal Osseous Dysplasia	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:300244
Weiss-Kruszka Syndrome	Epicanthus, Highly arched eyebrow, Colpocephaly, Downslanted palpebral fissures, Agenesis of corp...	OMIM:618619
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis	OMIM:110150
Stickler Syndrome, Type Vi	Downslanted palpebral fissures, Ptosis	OMIM:620022
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Ptosis	OMIM:615911
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Tetrasomy 12P	Telecanthus, Short stature, Sparse eyebrow, Upslanted palpebral fissure, Ptosis	ORPHA:884
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval	ORPHA:231111
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Ptosis	OMIM:618731
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma...	ORPHA:275872
Intellectual Developmental Disorder, Autosomal Dominant 23	Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:615761
Acrofrontofacionasal Dysostosis	Short stature, Eyelid coloboma, Downslanted palpebral fissures, Cerebral cortical atrophy, Aplasi...	ORPHA:1784
Non-Distal Deletion 10Q	Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys	ORPHA:1581
Joubert Syndrome 3	Lateral ventricle dilatation, Epicanthus, Highly arched eyebrow, Ptosis	OMIM:608629
Proximal Myopathy With Extrapyramidal Signs	Ptosis, Resting tremor, Dystonia	ORPHA:401768
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Epicanthus, Telecanthus, Short stature, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral...	OMIM:617360
Myasthenic Syndrome, Congenital, 6, Presynaptic	Ptosis	OMIM:254210
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Upslanted palpebral fissure, Synophrys, Ptosis	OMIM:616083
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Sclerosteosis	Ptosis	ORPHA:3152
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Dystonia	OMIM:300352
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tremor, Agenesis of corpus callosum, Limb tremor, Ptosis	OMIM:218000
Mosaic Trisomy 14	Blepharophimosis, Ptosis	ORPHA:1703
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Growth delay, Diffuse cerebellar atrophy, Short stature, Ptosis	ORPHA:363429
Keipert Syndrome	Epicanthus, Short stature, Ptosis	ORPHA:2662
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Epicanthus, Cerebral atrophy, Growth delay, Upslanted palpebral fissure, Down...	OMIM:618659
Ophthalmoplegia, Familial Total, With Iris Transillumination	Ptosis	OMIM:165098
Fetal Trimethadione Syndrome	Epicanthus, Intrauterine growth retardation, Synophrys, Ptosis	ORPHA:1913
Chromosome 2P16.1-P15 Deletion Syndrome	Epicanthus, Telecanthus, Short stature, Postnatal growth retardation, Cerebral atrophy, Blepharop...	OMIM:612513
Infantile Sialic Acid Storage Disease	Epicanthus, Cerebral atrophy, Ptosis	OMIM:269920
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Ptosis	OMIM:613561
Hadziselimovic Syndrome	Epicanthus, Short stature, Ptosis	OMIM:612946
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ptosis, Dystonia	ORPHA:313772
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Ptosis	OMIM:619465
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Long eyelashes, Brain atrophy, Ptosis	OMIM:619076
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ptosis	OMIM:605809
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Adult Intestinal Botulism	Ptosis	ORPHA:178487
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short stature, Sparse eyelashes, Blepharophimosis, Postnatal growth retardation, Sparse eyebrow, ...	OMIM:613026
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Narrow palpebral ...	OMIM:619293
Noonan Syndrome 9	Sparse eyebrow, Downslanted palpebral fissures, Short stature, Ptosis	OMIM:616559
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Wagr Syndrome	Short stature, Ptosis	ORPHA:893
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Short stature, Cerebral atrophy, Athetosis, Dystonia, Global brain atrophy, Ptosis	OMIM:612073
Coffin-Siris Syndrome 3	Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis	OMIM:614608
Ververi-Brady Syndrome	Short stature, Upslanted palpebral fissure, Intention tremor, Intrauterine growth retardation, Pt...	OMIM:617982
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Ptosis	OMIM:210700
Distal Duplication 6P	Short stature, Abnormal eyelash morphology, Blepharophimosis, Intrauterine growth retardation, Pt...	ORPHA:1745
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Ptosis	ORPHA:2229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Ptosis	OMIM:618098
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Short stature, Dystonia, Cerebral cortical atrophy, Ptosis	ORPHA:254913
Frontonasal Dysplasia 1	Epicanthus, Agenesis of corpus callosum, Ptosis	OMIM:136760
Waardenburg Syndrome Type 2	Telecanthus, Ptosis	ORPHA:895
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Ptosis	OMIM:608930
Myasthenic Syndrome, Congenital, 5	Ptosis	OMIM:603034
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Ptosis	OMIM:618958
Brain Dopamine-Serotonin Vesicular Transport Disease	Limb dystonia, Oculogyric crisis, Tremor, Dystonia, Ptosis	ORPHA:352649
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Agenesis of corpu...	OMIM:616239
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension, Intention tremor	OMIM:620029
King-Denborough Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Short stature, Ptosis	OMIM:619542
Arthrogryposis, Distal, Type 5	Blepharophimosis, Epicanthus, Short stature, Ptosis	OMIM:108145
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:3236
Joubert Syndrome 30	Cerebellar atrophy, Ptosis	OMIM:617622
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Ptosis	OMIM:615280
Myopathy With Extrapyramidal Signs	Epicanthus, Tremor, Growth delay, Choreoathetosis, Dystonia, Ptosis	OMIM:615673
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Intrauterine growth ret...	ORPHA:2319
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Ptosis	OMIM:221320
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Epicanthus, Long palpebral fissure, Ptosis	OMIM:615668
Developmental And Epileptic Encephalopathy 18	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:615476
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Postnatal growth retardation, Blepharophimosis, Intrauterine growth retardation, Broa...	ORPHA:494344
Rhyns Syndrome	Ptosis	ORPHA:140976
Congenital Myopathy 6 With Ophthalmoplegia	Ptosis	OMIM:605637
Gabriele-De Vries Syndrome	Telecanthus, Tremor, Sparse eyebrow, Epiblepharon, Lateral ventricle dilatation, Dystonia, Intrau...	OMIM:617557
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis	OMIM:615009
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Choreoathetosis, Ptosis, Dystonia	OMIM:618451
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted palpebral fi...	ORPHA:73246
Coffin-Siris Syndrome 2	Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis	OMIM:614607
Diabetes And Deafness, Maternally Inherited	Ptosis	OMIM:520000
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Long eyelashes, Ptosis	OMIM:606407
Wieacker-Wolff Syndrome	Short stature, Cerebral atrophy, Upslanted palpebral fissure, Dystonia, Ptosis	OMIM:314580
Combined Oxidative Phosphorylation Deficiency 20	Ptosis	OMIM:615917
Ohdo Syndrome	Epicanthus, Short stature, Sparse eyebrow, Blepharophimosis, Ptosis	OMIM:249620
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Ptosis	OMIM:601462
Dermoodontodysplasia	Ptosis, Abnormal eyelid morphology	ORPHA:1660
Joubert Syndrome 35	Telecanthus, Synophrys, Highly arched eyebrow, Ptosis	OMIM:618161
Marden-Walker Syndrome	Epicanthus, Postnatal growth retardation, Blepharophimosis, Intrauterine growth retardation, Agen...	OMIM:248700
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Ptosis	OMIM:616313
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis	ORPHA:2064
Congenital Myopathy With Myasthenic-Like Onset	Ptosis	ORPHA:424107
Warburg Micro Syndrome 4	Cerebellar atrophy, Short stature, Severe postnatal growth retardation, Cerebral cortical atrophy...	OMIM:615663
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis	ORPHA:1259
Intellectual Disability-Developmental Delay-Contractures Syndrome	Ptosis	ORPHA:3454
Teebi Hypertelorism Syndrome 2	Upper eyelid coloboma, Thick eyebrow, Ptosis	OMIM:619736
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Ptosis	ORPHA:2617
Wolfram Syndrome 1	Growth delay, Tremor, Cerebral atrophy, Ptosis	OMIM:222300
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia	OMIM:608800
Pontocerebellar Hypoplasia, Type 16	Cerebral cortical atrophy, Ptosis	OMIM:619527
Perlman Syndrome	Epicanthus, Ptosis	ORPHA:2849
Monosomy 18P	Epicanthus, Generalized dystonia, Short stature, Ptosis	ORPHA:1598
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Ptosis	ORPHA:1067
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Ptosis	OMIM:615278
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:608931
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ptosis	OMIM:125250
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Tremor, Cerebellar atrophy, Cerebral atrophy, Ptosis	ORPHA:137898
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Ptosis, Epicanthus, Dystonia	OMIM:618186
X-Linked Creatine Transporter Deficiency	Ptosis, Athetosis, Short stature, Dystonia	ORPHA:52503
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Opisthotonus, Choreoathetosis, Dystonia, Ptosis	ORPHA:13
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Long palpebral fissure, Ptosis	ORPHA:531151
Noonan Syndrome 5	Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:611553
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Richieri-Costa/Guion-Almeida Syndrome	Downslanted palpebral fissures, Eyelid coloboma, Short stature, Ptosis	OMIM:268850
Congenital Disorder Of Glycosylation, Type Iio	Downslanted palpebral fissures, Ptosis	OMIM:616828
X-Linked Mandibulofacial Dysostosis	Epicanthus, Short stature, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1131
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Laryngeal dystonia	ORPHA:94089
Myopathy, Centronuclear, 2	Intrauterine growth retardation, Ptosis	OMIM:255200
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Growth delay, Subcortical cerebr...	ORPHA:2995
3Mc Syndrome	Telecanthus, Highly arched eyebrow, Postnatal growth retardation, Blepharophimosis, Epicanthus in...	ORPHA:293843
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Global brain ...	OMIM:615838
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Epicanthus, Short stature, Lacrimal duct stenosis, Growth delay, Dystonia, Ptosis	ORPHA:457193
Noonan Syndrome 8	Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis	OMIM:615355
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis	ORPHA:2988
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis	ORPHA:915
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Ptosis	ORPHA:1154
Spinocerebellar Ataxia Type 36	Intention tremor, Ptosis, Hand tremor, Head tremor	ORPHA:276198
Neonatal Adrenoleukodystrophy	Short stature, Ptosis	ORPHA:44
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Tremor, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissures, Thick...	OMIM:617061
Polyvalvular Heart Disease Syndrome	Short stature, Ptosis	ORPHA:228410
Thrombocytopenia, Paris-Trousseau Type	Ptosis	OMIM:188025
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Ptosis	ORPHA:2511
Short Stature And Facioauriculothoracic Malformations	Proportionate short stature, Ptosis	OMIM:609654
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Short stature, Ptosis	OMIM:247410
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Short stature, Intrauterine growth retardation, Ptosis	ORPHA:1915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Bilateral ptosis, Dystonia, Intention tremor, Ptosis	OMIM:258450
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Short stature, Downslanted palpebral fissures, Ptosis	ORPHA:2496
Congenital Myopathy 19	Ptosis	OMIM:618578
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Ptosis	OMIM:616549
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Ptosis	ORPHA:1473
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis	ORPHA:1778
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Ptosis	OMIM:615084
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Short stature, Upslanted palpebral fissure, Horizontal eyebrow, Ptosis	ORPHA:369891
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:391372
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Downslanted palpebral fissures, Long eyelashes, Ptosis	OMIM:617523
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis	OMIM:608423
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis	OMIM:616355
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Auriculocondylar Syndrome 2A	Ptosis	OMIM:614669
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short stature, Highly arched eyebrow, Growth delay, Long eyelashes, Delayed puberty, Intrauterine...	OMIM:615866
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Ptosis, Truncal titubation, Opisthotonus, Dystonia, Craniofacial dystonia, Action tremor	OMIM:607483
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Short stature, Ptosis	ORPHA:66629
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Ptosis	ORPHA:1933
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Intrauterine growth retardation, Blepharophimosis, Ptosis	ORPHA:2728
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Synophrys, Thick eyebrow, Ptosis	ORPHA:894
Leigh Syndrome	Ptosis, Dystonia	OMIM:256000
Myopathy, Centronuclear, 1	Ptosis	OMIM:160150
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ptosis	ORPHA:663
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Ptosis	OMIM:619566
Fetal Hydantoin Syndrome	Intrauterine growth retardation, Epicanthus, Short stature, Ptosis	ORPHA:1912
Congenital Ptosis	Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Congenital bilat...	ORPHA:91411
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Growth delay, Severe intrauterine growth retardation, Abnormal shape...	ORPHA:363659
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:157835
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short stature, Ptosis	OMIM:606220
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, Pt...	OMIM:617190
Joubert Syndrome With Renal Defect	Tremor, Agenesis of corpus callosum, Highly arched eyebrow, Ptosis	ORPHA:220497
Inclusion Body Myopathy And Brain White Matter Abnormalities	Ptosis	OMIM:619733
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:619075
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Short stature, Thick eyebrow, Ptosis	ORPHA:127
Rubinstein-Taybi Syndrome	Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Nasolacrimal duct obstruction, Dow...	ORPHA:783
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral regurgitation	ORPHA:309155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ptosis	OMIM:615156
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ptosis	OMIM:617468
Axial Spondylometaphyseal Dysplasia	Mild postnatal growth retardation, Short stature, Disproportionate short-trunk short stature, Gro...	ORPHA:168549
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Short stature, Multiple pterygia, Abnormal eyelid morphology, Antecubita...	ORPHA:2990
Distal Deletion 3P	Epicanthus, Telecanthus, Short stature, Blepharophimosis, Intrauterine growth retardation, Abnorm...	ORPHA:1620
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Short stature, Ptosis	ORPHA:1185
Noonan Syndrome 4	Epicanthus, Short stature, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:610733
3Mc Syndrome 2	Torticollis, Highly arched eyebrow, Postnatal growth retardation, Blepharophimosis, Epicanthus in...	OMIM:265050
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Downslanted palpebral fissures, Ptosis	OMIM:618109
Microcephaly-Capillary Malformation Syndrome	Short stature, Cerebral atrophy, Ptosis	OMIM:614261
Myasthenic Syndrome, Congenital, 14	Ptosis	OMIM:616228
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Short stature, Ptosis	OMIM:239710
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissure...	OMIM:620098
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Epicanthus, Telecanthus, Postnatal growth retardation, Blepharophimosis, Ptosis	OMIM:193700
22Q11.2 Duplication Syndrome	Growth delay, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1727
Myasthenic Syndrome, Congenital, 24, Presynaptic	Ptosis	OMIM:618198
Fountain Syndrome	Epicanthus, Short stature, Synophrys, Thick eyebrow, Ptosis	ORPHA:3219
Coach Syndrome 3	Ptosis	OMIM:619113
Muenke Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:602849
Pseudohypoparathyroidism Type 1A	Choreoathetosis, Hypertension, Laryngeal dystonia, Prolonged QT interval	ORPHA:79443
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Ptosis	ORPHA:2522
Nager Syndrome	Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:245
Combined Oxidative Phosphorylation Deficiency 12	Ptosis, Dysplastic corpus callosum, Agenesis of corpus callosum, Dystonia	OMIM:614924
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Narrow palpebral fissure, Long palpebral fissure, Intrauterine grow...	ORPHA:439822
3Mc Syndrome 1	Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Postnatal growth retardation, Sy...	OMIM:257920
Schwartz-Jampel Syndrome, Type 1	Short stature, Narrow palpebral fissure, Long eyelashes in irregular rows, Blepharophimosis, Ptosis	OMIM:255800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Ptosis	ORPHA:352447
Codas Syndrome	Epicanthus, Short stature, Ptosis	ORPHA:1458
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Ruvalcaba Syndrome	Ptosis, Intrauterine growth retardation, Downslanted palpebral fissures, Delayed puberty	ORPHA:3121
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Brain atrophy, Downslanted palpebral fissures, Sparse lateral eyebrow	ORPHA:314655
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Laryngeal dystonia	ORPHA:79444
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Arm dystonia, Ptosis	ORPHA:88644
Emanuel Syndrome	Hooded eyelid, Cerebral atrophy, Growth delay, Upslanted palpebral fissure, Intrauterine growth r...	ORPHA:96170
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Brain atrophy, Ptosis	OMIM:301041
Tyshchenko Syndrome	Intrauterine growth retardation, Short stature, Ptosis	OMIM:615102
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Downslanted palpebral fissure...	OMIM:619087
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Rhizomelia, Short stature, Thick eyebrow, Postnatal growth retardation, ...	ORPHA:319182
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Intrauterine growth retardation, Short stature, Ptosis	ORPHA:1323
Joubert Syndrome With Ocular Defect	Tremor, Agenesis of corpus callosum, Highly arched eyebrow, Ptosis	ORPHA:220493
Kury-Isidor Syndrome	Growth delay, Downslanted palpebral fissures, Ptosis	OMIM:619762
Six2-Related Frontonasal Dysplasia	Intrauterine growth retardation, Epicanthus inversus, Short stature, Ptosis	ORPHA:488437
Congenital Myopathy 4A, Autosomal Dominant	Ptosis	OMIM:255310
Trisomy 17P	Short stature, Growth delay, Intrauterine growth retardation, Downslanted palpebral fissures, Bro...	ORPHA:261290
Chromosome 18P Deletion Syndrome	Ptosis, Epicanthus, Short stature, Dystonia	OMIM:146390
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Postnatal growth retardation, Short stature, Ptosis	OMIM:300845
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, Ptosis	ORPHA:98673
3Mc Syndrome 3	Short stature, Highly arched eyebrow, Growth delay, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Congenital Myopathy 5 With Cardiomyopathy	Ptosis	OMIM:611705
Buratti-Harel Syndrome	Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:619314
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cerebral atrophy, Downslanted palpebral fissures, Agenesis of corpus callosum, Ptosis	OMIM:616449
Childhood-Onset Nemaline Myopathy	Ptosis	ORPHA:171439
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Short stature, Ptosis	ORPHA:3068
Meckel Syndrome, Type 10	Narrow palpebral fissure, Epicanthus, Ptosis	OMIM:614175
Joubert Syndrome 37	Short stature, Ptosis	OMIM:619185
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure...	OMIM:616737
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Growth delay, Downslanted palpebral fissures, Ptosis	OMIM:614424
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Sparse eyebrow, Growth delay, Long eyelashes, Blepharophimosis, Intraute...	ORPHA:261349
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Ophthalmoplegia, Familial Static	Ptosis	OMIM:165000
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis	OMIM:608624
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Crouzon Syndrome	Conjunctivitis, Ptosis	ORPHA:207
Machado-Joseph Disease	Cerebellar atrophy, Ptosis, Dystonia	OMIM:109150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Blepharophimosis, Agenesis of corpus callosum, Short palpebral fissure, Ptosis	OMIM:217980
Developmental And Epileptic Encephalopathy 110	Ptosis	OMIM:620149
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cerebral atrophy, Ptosis	OMIM:609286
Congenital Myopathy 1B, Autosomal Recessive	Ptosis	OMIM:255320
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Arthrogryposis, Distal, Type 5D	Ptosis, Short stature, Highly arched eyebrow, Lagophthalmos	OMIM:615065
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Short stature, Upslanted palpebral fissure, Short palpebral fissure, Ptosis	OMIM:617159
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Diffuse cerebral atrophy, Highly arched eyebrow, Synophrys, Narrow palpe...	OMIM:613776
Autosomal Recessive Spastic Paraplegia Type 77	Ptosis, Paroxysmal dystonia, Dystonia, Intention tremor	ORPHA:466722
Cardiac Valvular Dysplasia, X-Linked	Ptosis	OMIM:314400
Arthrogryposis, Distal, Type 1A	Short stature, Ptosis	OMIM:108120
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Epicanthus, Cerebral atrophy, Ptosis	OMIM:220500
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Blepharophimosis, Short stature, Ptosis	ORPHA:2031
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis	ORPHA:93262
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Epicanthus, Short stature, Bilateral ptosis, Synophrys, Growth delay	OMIM:619557
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Ptosis	OMIM:243180
Branchio-Oculo-Facial Syndrome	Short stature, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Intrauterine growth re...	ORPHA:1297
Congenital Disorder Of Glycosylation, Type 2V	Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619493
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Short stature, Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebr...	OMIM:178110
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:110100
Spinocerebellar Ataxia 36	Cerebellar atrophy, Ptosis	OMIM:614153
Jackson-Weiss Syndrome	Ptosis	ORPHA:1540
Acrocraniofacial Dysostosis	Downslanted palpebral fissures, Telecanthus, Short stature, Ptosis	ORPHA:949
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Short stature, Hooded eyelid, Highly arched eyebrow, Synophrys, Nasol...	OMIM:610759
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Short stature, Ptosis	ORPHA:364028
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Carey-Fineman-Ziter Syndrome	Epicanthus, Short stature, Growth delay, Downslanted palpebral fissures, Ptosis	ORPHA:1358
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Congenital Myasthenic Syndromes With Glycosylation Defect	Ptosis	ORPHA:353327
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Arthrogryposis, Distal, Type 3	Epicanthus, Short stature, Ptosis	OMIM:114300
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Long eyelashes, Ptosis	OMIM:617301
Dpagt1-Cdg	Tremor, Prolonged QT interval, Intracranial hemorrhage	ORPHA:86309
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Joubert Syndrome 7	Ptosis	OMIM:611560
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:300260
Aarskog-Scott Syndrome	Short stature, Delayed puberty, Mild short stature, Downslanted palpebral fissures, Ptosis	OMIM:305400
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the extraocular muscles, Ptosis	ORPHA:298
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Neurodegeneration, Mild short stature, Ptosis	OMIM:309900
Congenital Myopathy 22A, Classic	Bilateral ptosis, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:620351
Coach Syndrome 1	Growth delay, Ptosis, Dystonia	OMIM:216360
Acromelic Frontonasal Dysplasia	Telecanthus, Agenesis of corpus callosum, Ptosis	ORPHA:1827
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Telecanthus, Choreoathetosis, Athetosis, Upslanted palpebral fissure, Ptosis	OMIM:620224
Rhyns Syndrome	Short stature, Ptosis	OMIM:602152
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616323
Cardiofaciocutaneous Syndrome	Epicanthus, Short stature, Abnormal eyelash morphology, Sparse or absent eyelashes, Long palpebra...	ORPHA:1340
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Ptosis	OMIM:619046
Congenital Multicore Myopathy With External Ophthalmoplegia	Severe postnatal growth retardation, Ptosis	ORPHA:98905
Pfeiffer Syndrome	Short stature, Ptosis	ORPHA:710
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Short stature, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pter...	OMIM:265000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Growth delay, Upslanted palpebral fissure, Ptosis	OMIM:619758
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Sparse eyebrow, Cerebral atrophy, Lateral ventricle dilatation, Downslanted palpebral...	ORPHA:464738
Koolen-De Vries Syndrome	Epicanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis, Ptosis	ORPHA:96169
Multiple System Atrophy 1, Susceptibility To	Tremor, Neurodegeneration, Ptosis	OMIM:146500
Aniridia-Absent Patella Syndrome	Ptosis	ORPHA:1069
Postsynaptic Congenital Myasthenic Syndromes	Ptosis	ORPHA:98913
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Cardiomyopathy	ORPHA:373
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Narrow palpebral fissure, Brain atrophy, Downslanted palpebral fissures, Ptosis	OMIM:613603
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615829
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Growth delay, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:614230
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Ptosis, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys...	OMIM:213980
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:618050
Leigh Syndrome	Cerebellar atrophy, Growth delay, Athetosis, Choreoathetosis, Dystonia, Intrauterine growth retar...	ORPHA:506
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Epicanthus, Short stature, Cerebral atrophy, Dystonia, Intrauterine growth re...	OMIM:251300
Myopathy, Myofibrillar, 8	Ptosis	OMIM:617258
Neutral Lipid Storage Disease With Ichthyosis	Central nervous system degeneration, Ectropion, Short stature, Ptosis	ORPHA:98907
Char Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:46627
Joubert Syndrome	Tremor, Highly arched eyebrow, Ptosis	ORPHA:475
Dubowitz Syndrome	Epicanthus, Telecanthus, Short stature, Postnatal growth retardation, Blepharophimosis, Intrauter...	OMIM:223370
Amyloidosis, Hereditary, Transthyretin-Related	Tremor, Ptosis, Intention tremor	OMIM:105210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Long palpebral fissure, Ptosis	OMIM:603387
Visceral Myopathy, Familial, With External Ophthalmoplegia	Ptosis	OMIM:277320
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension	OMIM:268800
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Short stature, Absent eyelashes, Palpebral thickening, Downslanted pa...	OMIM:115150
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short stature, Growth delay, Keratoconjunctivitis sicca, Cerebral cortical atrophy, Thick eyebrow...	OMIM:616007
Frontofacionasal Dysplasia	Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs...	OMIM:229400
2Q31.1 Microdeletion Syndrome	Epicanthus, Short stature, Synophrys, Downslanted palpebral fissures, Cerebral cortical atrophy, ...	ORPHA:251014
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ptosis, Hooded eyelid, Short stature, Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Sy...	OMIM:619841
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	ORPHA:33001
Intestinal Botulism	Ptosis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Ptosis	ORPHA:230800
Cenani-Lenz Syndrome	Ectropion, Downslanted palpebral fissures, Ptosis	ORPHA:3258
Microphthalmia, Isolated, With Coloboma 9	Narrow palpebral fissure, Ptosis	OMIM:615145
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Synophry...	ORPHA:487796
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Short stature, Sparse eyebrow, Upslanted palpebral fissure, Blepharophim...	OMIM:244450
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Ptosis	OMIM:615453
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Neurofaciodigitorenal Syndrome	Epicanthus, Short stature, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis	ORPHA:2673
Aase-Smith Syndrome I	Ptosis	OMIM:147800
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Ptosis	ORPHA:2824
Acrofrontofacionasal Dysostosis 1	Short stature, Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Ptosis	OMIM:201180
Jacobsen Syndrome	Epicanthus, Ectropion, Short stature, Cerebral atrophy, Growth delay, Agenesis of corpus callosum...	ORPHA:2308
Orofaciodigital Syndrome Xvi	Short palpebral fissure, Ptosis	OMIM:617563
Kearns-Sayre Syndrome	Short stature, Ptosis	OMIM:530000
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:3134
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Ptosis	OMIM:618798
Van Maldergem Syndrome 1	Epicanthus, Growth delay, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:601390
Congenital Myopathy 13	Telecanthus, Short stature, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fis...	OMIM:255995
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Ptosis	OMIM:613077
Angelman Syndrome	Tremor, Delayed menarche, Cerebral cortical atrophy, Ptosis	ORPHA:72
Van Maldergem Syndrome 2	Epicanthus, Growth delay, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, Pt...	OMIM:615546
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Ptosis	OMIM:619424
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Short stature, Ptosis	OMIM:616723
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Short stature, Ptosis	OMIM:609037
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Agenesis of corpus callosum, Ptosis	ORPHA:306542
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Lathosterolosis	Ptosis, Epicanthus, Intrauterine growth retardation, Downslanted palpebral fissures, Cerebellar c...	ORPHA:46059
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:609460
Waardenburg Syndrome	Abnormal eyebrow morphology, Synophrys, Telecanthus, Ptosis	ORPHA:3440
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Kbg Syndrome	Telecanthus, Short stature, Synophrys, Long palpebral fissure, Downslanted palpebral fissures, Th...	OMIM:148050
Muenke Syndrome	Ptosis	ORPHA:53271
Tukel Syndrome	Congenital fibrosis of extraocular muscles, Ptosis	OMIM:609428
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Arthrogryposis Multiplex Congenita 5	Hand tremor, Growth delay, Upslanted palpebral fissure, Dystonia, Intrauterine growth retardation...	OMIM:618947
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum, Ptosis	OMIM:309520
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 7	Ptosis	OMIM:613559
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Dysplastic corpus callosum, Upslanted palpebral fissure, Colpocephaly, Epicanthus inv...	OMIM:618820
Koolen-De Vries Syndrome	Epicanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis, Intrauterine growth ret...	OMIM:610443
Cdags Syndrome	Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis	OMIM:603116
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Thin eyebrow, Ptosis	OMIM:618000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ptosis	OMIM:560000
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Exaggerated startle response, Dystonia	ORPHA:79255
8Q21.11 Microdeletion Syndrome	Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Combined Oxidative Phosphorylation Deficiency 33	Intrauterine growth retardation, Ptosis	OMIM:617713
Kosaki Overgrowth Syndrome	Xanthelasma, Downslanted palpebral fissures, Ptosis	OMIM:616592
14Q22Q23 Microdeletion Syndrome	Epicanthus, Short stature, Agenesis of corpus callosum, Downslanted palpebral fissures, Ptosis	ORPHA:264200
Refsum Disease, Classic	Ptosis	OMIM:266500
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:606851
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis	OMIM:606232
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Short stature, Sparse eyebrow, Ptosis	OMIM:129400
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Short stature, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fiss...	OMIM:615873
Oculocerebrocutaneous Syndrome	Eyelid coloboma, Ptosis	ORPHA:1647
Coffin-Siris Syndrome	Postnatal growth retardation, Prominent eyelashes, Growth delay, Intrauterine growth retardation,...	ORPHA:1465
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis	ORPHA:257
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Eyelid colob...	OMIM:147791
Lateral Meningocele Syndrome	Downslanted palpebral fissures, Telecanthus, Short stature, Ptosis	OMIM:130720
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Coffin-Siris Syndrome 4	Short stature, Long eyelashes, Intrauterine growth retardation, Agenesis of corpus callosum, Thic...	OMIM:614609
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Ptosis	OMIM:212112
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Downslanted palpebral fissures, Ptosis	ORPHA:2215
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy, Ptosis	OMIM:610131
Iatrogenic Botulism	Ptosis	ORPHA:254509
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Short stature, Postnatal growth retardation, Blepharophimosis, I...	ORPHA:235
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ptosis, Epicanthus, Lacrimal duct stenosis, Short stature, Highly arched eyebrow, Upslanted palpe...	OMIM:617506
Congenital Sialidosis Type 2	Abnormal EKG, Telangiectasia	ORPHA:93400
Noonan Syndrome 10	Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:616564
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction	ORPHA:268
Loeys-Dietz Syndrome 4	Torticollis, Downslanted palpebral fissures, Ptosis	OMIM:614816
Wound Botulism	Ptosis	ORPHA:178475
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short stature, Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:616728
Visual Impairment And Progressive Phthisis Bulbi	Ptosis	OMIM:618283
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Lagophthalmos, Growth delay, Downslanted palpebral fissures, Ptosis	OMIM:254940
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Ptosis	ORPHA:70595
Gjc2-Related Late-Onset Primary Lymphedema	Ptosis	ORPHA:568051
Trichohepatoneurodevelopmental Syndrome	Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Cerebral atrophy, Long eyelash...	OMIM:618268
Pontine Tegmental Cap Dysplasia	Head titubation, Ptosis	OMIM:614688
Saethre-Chotzen Syndrome	Blepharospasm, Epicanthus, Short stature, Ptosis	ORPHA:794
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Ptosis	OMIM:605627
Cardiac-Valvular Ehlers-Danlos Syndrome	Short stature, Thick eyebrow, Ptosis	ORPHA:230851
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Tremor, Sparse eyebrow, Agenesis of corpus callosum, Dystoni...	ORPHA:506358
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Downslanted palpe...	OMIM:613563
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Intrauterine growth retardation, Epicanthus, Cerebral atrophy, Ptosis	OMIM:618164
Inhalational Botulism	Ptosis	ORPHA:254504
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Oculogastrointestinal Muscular Dystrophy	Ptosis	ORPHA:1876
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Short stature, Ptosis	OMIM:613385
Myasthenic Syndrome, Congenital, 20, Presynaptic	Ptosis	OMIM:617143
Lateral Meningocele Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2789
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:881
Autosomal Dominant Centronuclear Myopathy	Ptosis	ORPHA:169189
Marden-Walker Syndrome	Severe short stature, Growth delay, Blepharophimosis, Intrauterine growth retardation, Agenesis o...	ORPHA:2461
Ohdo Syndrome, X-Linked	Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:300895
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Blepharophimosis, Telecanthus, Long eyelashes, Ptosis	OMIM:604314
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Hand tremor, Ptosis	OMIM:157640
Kabuki Syndrome 1	Short stature, Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Bilateral pto...	OMIM:147920
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Ptosis	ORPHA:521411
Noonan Syndrome 2	Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:605275
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Ptosis	ORPHA:2712
Acromelic Frontonasal Dysostosis	Agenesis of corpus callosum, Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:603671
Glycogen Storage Disease Xii	Ptosis, Epicanthus, Short stature, Delayed puberty	OMIM:611881
Infant Botulism	Keratoconjunctivitis sicca, Ptosis	ORPHA:178478
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati...	ORPHA:141099
Reni Syndrome	Ptosis	OMIM:617575
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Ptosis	ORPHA:2318
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Short stature, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted ...	OMIM:616734
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:104350
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum, Downslanted palpebral fissures, Ptosis	OMIM:123790
Typical Nemaline Myopathy	Ptosis	ORPHA:171436
Prolidase Deficiency	Ptosis	OMIM:170100
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Kallmann Syndrome	Tremor, Ptosis, Delayed puberty	ORPHA:478
Refsum Disease	Ptosis	ORPHA:773
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Torticollis, Levator palpebrae superioris atrophy, Pt...	ORPHA:45358
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Oculopharyngodistal Myopathy 1	Tremor, Bilateral ptosis, Brain atrophy, Ptosis	OMIM:164310
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:312830
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Synophrys, Short stature, Ptosis	OMIM:309583
Vici Syndrome	Postnatal growth retardation, Epicanthus, Agenesis of corpus callosum, Ptosis	OMIM:242840
Alexander Disease	Tremor, Agenesis of corpus callosum, Ptosis	ORPHA:58
Loeys-Dietz Syndrome 5	Short stature, Growth delay, Long palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615582
X-Linked Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:98853
Ayme-Gripp Syndrome	Short stature, Cerebral atrophy, Upslanted palpebral fissure, Downslanted palpebral fissures, Bro...	OMIM:601088
Phosphoribosylpyrophosphate Synthetase Superactivity	Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis	OMIM:300661
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Joubert Syndrome With Hepatic Defect	Tremor, Highly arched eyebrow, Ptosis	ORPHA:1454
Combined Oxidative Phosphorylation Defect Type 7	Ptosis	ORPHA:254930
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	OMIM:153400
Teebi-Shaltout Syndrome	Telecanthus, Short stature, Highly arched eyebrow, Ptosis	OMIM:272950
Foodborne Botulism	Ptosis	ORPHA:228371
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Cerebral atrophy, Growth delay, Choreoathetosis, Dystonia, Ptosis	ORPHA:17
Holoprosencephaly 4	Ptosis	OMIM:142946
Joubert Syndrome 8	Ptosis	OMIM:612291
Autosomal Dominant Robinow Syndrome	Epicanthus, Severe short stature, Short stature, Curly eyelashes, Upslanted palpebral fissure, Eu...	ORPHA:3107
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short stature, Cerebral atrophy, Upslanted palpebral fissure, Blepharophimosis, Epicanthus invers...	OMIM:309590
Kabuki Syndrome	Ptosis, Short stature, Highly arched eyebrow, Long eyelashes, Eversion of lateral third of lower ...	ORPHA:2322
Holoprosencephaly	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Dystonia, Blepharophim...	ORPHA:2162
Opitz Gbbb Syndrome	Telecanthus, Short stature, Agenesis of corpus callosum, Downslanted palpebral fissures, Ptosis	ORPHA:2745
Aicardi-Goutières Syndrome	Short stature, Tremor, Eyelid coloboma, Degeneration of the striatum, Brain atrophy, Dystonia, Pt...	ORPHA:51
Wagro Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:612469
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Ptosis	ORPHA:99956
Lathosterolosis	Epicanthus, Cerebral atrophy, Growth delay, Downslanted palpebral fissures, Ptosis	OMIM:607330
Brown-Vialetto-Van Laere Syndrome 1	Ptosis	OMIM:211530
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:1555
Myhre Syndrome	Severe short stature, Blepharophimosis, Intrauterine growth retardation, Short palpebral fissure,...	ORPHA:2588
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow...	OMIM:154500
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Epicanthus inversus, Ptosis	OMIM:617062
Monosomy 22Q13.3	Epicanthus, Palpebral edema, Long eyelashes, Cerebellar cortical atrophy, Agenesis of corpus call...	ORPHA:48652
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Synaptic Congenital Myasthenic Syndromes	Bilateral ptosis, Ptosis	ORPHA:98915
Myasthenia Gravis	Ptosis	OMIM:254200
Cornelia De Lange Syndrome 1	Short stature, Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine gr...	OMIM:122470
Myasthenic Syndrome, Congenital, 19	Ptosis	OMIM:616720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Long palpebral fissure, Intrauterine growth retardation, Ptosis, Shallow orbits	ORPHA:453499
Shprintzen-Goldberg Craniosynostosis Syndrome	Ptosis, Telecanthus, Downslanted palpebral fissures, Shallow orbits	OMIM:182212
Hunter-Macdonald Syndrome	Short stature, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:611962
Arboleda-Tham Syndrome	Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upper eyelid edema, Growth delay, Conj...	OMIM:616268
Nail-Patella Syndrome	Short stature, Antecubital pterygium, Ptosis	OMIM:161200
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Epicanthus, Short palpebral fissure, Ptosis	ORPHA:959
Noonan Syndrome With Multiple Lentigines	Growth delay, Intrauterine growth retardation, Short stature, Ptosis	ORPHA:500
Frontorhiny	Epicanthus, Ptosis	ORPHA:391474
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Epicanthus, Short stature, Long eyelashes, Downslanted palpebral fissures, Ptosis	OMIM:607721
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho...	ORPHA:2526
Myasthenia, Limb-Girdle, Autoimmune	Ptosis	OMIM:159400
Au-Kline Syndrome	Lagophthalmos, Shallow orbits, Long palpebral fissure, Downslanted palpebral fissures, Sparse lat...	OMIM:616580
Autosomal Recessive Robinow Syndrome	Epicanthus, Upslanted palpebral fissure, Long eyelashes, Disproportionate short-limb short statur...	ORPHA:1507
Intellectual Developmental Disorder, Autosomal Dominant 29	Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:616078
Neurofibromatosis-Noonan Syndrome	Epicanthus, Short stature, Lisch nodules, Downslanted palpebral fissures, Ptosis	OMIM:601321
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Intrauterine growth retardation, Short stature, Highly arched eyebrow, Ptosis	ORPHA:2282
Congenital Myopathy 17	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:618975
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Short stature, Ptosis	OMIM:620303
Joubert Syndrome 1	Epicanthus, Highly arched eyebrow, Ptosis	OMIM:213300
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Resting tremor, Cerebellar atrophy, Ptosis	ORPHA:254892
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Short stature, Blepharospasm, Long eyelashes in irregular rows, Blep...	ORPHA:800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Growth delay, Shallow orbits, Long palpebral fissure, Eversion of lateral third of lower eyelids,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Growth delay, Shallow orbits, Long palpebral fissure, Eversion of lateral third of lower eyelids,...	ORPHA:352665
Multiple Synostoses Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:186500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Hooded upper eyelid, Ptosis	OMIM:618548
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Growth delay, Ptosis	OMIM:615895
Neuroocular Syndrome	Short stature, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Lo...	OMIM:619539
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Na...	OMIM:180849
Duane Retraction Syndrome	Blepharospasm, Ptosis, Short palpebral fissure, Blepharophimosis	ORPHA:233
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Postnatal growth retardation, Upslanted palpebral fissure, Blepharophimosis, Agenesis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Postnatal growth retardation, Upslanted palpebral fissure, Blepharophimosis, Agenesis...	ORPHA:363958
Orthostatic Hypotension 1	Ptosis	OMIM:223360
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Agenesis of corpus callosum, Intrauterine growth retardation, ...	ORPHA:280
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ptosis	OMIM:251900
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis	OMIM:167100
Congenital Myasthenic Syndrome	Ptosis	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Ptosis	ORPHA:98914
Noonan Syndrome 3	Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis	OMIM:609942
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ptosis	ORPHA:436271
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr...	OMIM:613458
Moebius Syndrome	Epicanthus, Blepharitis, Ptosis	ORPHA:570
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Ptosis	ORPHA:1969
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Eyelid coloboma, Downslanted palpebral fissures, Ptosis	ORPHA:2211
Isolated Complex I Deficiency	Intrauterine growth retardation, Ptosis	ORPHA:2609
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Ptosis	ORPHA:3217
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, Epicanthus, Ptosis	OMIM:619934
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ptosis	OMIM:220110
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Cerebral atrophy, Sparse lateral eyebrow, Ptosis	OMIM:280000
Smith-Lemli-Opitz Syndrome	Epicanthus, Rhizomelia, Short stature, Abnormal eyelash morphology, Growth delay, Upslanted palpe...	ORPHA:818
Shprintzen-Goldberg Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2462
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	ORPHA:369950
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:301066
Myasthenia Gravis	Ptosis	ORPHA:589
Fanconi Anemia	Epicanthus, Short stature, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Growth de...	ORPHA:84
Giant Cell Arteritis	Ptosis	ORPHA:397
Monosomy 13Q14	Intrauterine growth retardation, Epicanthus, Short stature, Ptosis	ORPHA:1587
Mitochondrial Complex I Deficiency, Nuclear Type 1	Growth delay, Upslanted palpebral fissure, Cerebellar atrophy, Ptosis	OMIM:252010
Auriculocondylar Syndrome	Ptosis	ORPHA:137888
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Epicanthus, Diffuse cerebral atrophy, Short stature, Partial agenesis of the ...	OMIM:270400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia, Ptosis	OMIM:603041
Mesomelia-Synostoses Syndrome	Mesomelic short stature, Downslanted palpebral fissures, Telecanthus, Ptosis	OMIM:600383
Chime Syndrome	Upslanted palpebral fissure, Epicanthus, Cerebral cortical atrophy, Ptosis	ORPHA:3474
Prolactinoma	Ptosis, Delayed puberty	ORPHA:2965
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Torticollis, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Ptosis	OMIM:609945
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Ptosis	OMIM:607459
Cornelia De Lange Syndrome	Short stature, Curly eyelashes, Highly arched eyebrow, Synophrys, Severe postnatal growth retarda...	ORPHA:199
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, ...	ORPHA:444077
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Ptosis	OMIM:259100
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Blepharophim...	OMIM:618332
Leopard Syndrome 1	Epicanthus, Short stature, Delayed puberty, Delayed menarche, Ptosis	OMIM:151100
Non-Functioning Pituitary Adenoma	Ptosis	ORPHA:91349
Wolf-Hirschhorn Syndrome	Epicanthus, Short stature, Highly arched eyebrow, Growth delay, Severe postnatal growth retardati...	OMIM:194190
Primary Hepatic Neuroendocrine Carcinoma	Ptosis	ORPHA:100085
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum, Ptosis	OMIM:618748
Miller Fisher Syndrome	Ptosis	ORPHA:98919
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Ptosis	ORPHA:228426
22Q11.2 Deletion Syndrome	Telecanthus, Epicanthus, Short stature, Abnormal eyelid morphology, Upslanted palpebral fissure, ...	ORPHA:567
Codas Syndrome	Short stature, Ptosis	OMIM:600373
Charge Syndrome	Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Eyelid coloboma, ...	ORPHA:138
Spondylodysplastic Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Short stature, Ptosis	ORPHA:536471
Pituitary Apoplexy	Ptosis	ORPHA:95613
Phace Syndrome	Agenesis of corpus callosum, Abnormality of the orbital region, Ptosis	ORPHA:42775
Congenital Disorder Of Deglycosylation 1	Ptosis, Athetosis, Action tremor	OMIM:615273
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun...	ORPHA:2363
Arachnoid Cyst	Ptosis	ORPHA:2356
Coffin-Siris Syndrome 1	Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Long eyelas...	OMIM:135900
Malignant Atrophic Papulosis	Ptosis	ORPHA:679
Noonan Syndrome	Downslanted palpebral fissures, Short stature, Ptosis	ORPHA:648
Meckel Syndrome, Type 1	Intrauterine growth retardation, Epicanthus inversus, Agenesis of corpus callosum, Ptosis	OMIM:249000
Degcags Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Synophrys, Long eyelashes, Intrauterine...	OMIM:619488
African Trypanosomiasis	Abnormal EKG, Pericarditis, Tremor, Myocarditis, Congestive heart failure, Choreoathetosis, Secon...	ORPHA:3385
Faciocardiomelic Syndrome	Telecanthus, Short eyelashes, Ptosis	OMIM:612731
Fetal Akinesia Deformation Sequence 1	Telecanthus, Blepharophimosis, Intrauterine growth retardation, Short palpebral fissure, Ptosis	OMIM:208150
Good Syndrome	Ptosis	ORPHA:169105
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:225400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Short stature, Highly arched eyebrow, Trichiasis, Postnata...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Short stature, Highly arched eyebrow, Trichiasis, Postnata...	ORPHA:353277
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ptosis	OMIM:615510
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Short stature, Intrauterine growth retardation, Short palpebral fissure, Ptosis	OMIM:617157
Pachydermoperiostosis	Ptosis	ORPHA:2796
Peters-Plus Syndrome	Rhizomelia, Postnatal growth retardation, Cerebral atrophy, Birth length less than 3rd percentile...	OMIM:261540
Costello Syndrome	Epicanthus, Short stature, Cerebral atrophy, Downslanted palpebral fissures, Ptosis	OMIM:218040
Erdheim-Chester Disease	Xanthelasma, Ptosis	ORPHA:35687
Noonan Syndrome 1	Epicanthus, Short stature, Postnatal growth retardation, Downslanted palpebral fissures, Ptosis	OMIM:163950
Aniridia 1	Bilateral ptosis, Ptosis	OMIM:106210
Tsh-Secreting Pituitary Adenoma	Tremor, Ptosis, Delayed puberty	ORPHA:91347
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Short stature, Upslanted palpebral fissure, Ptosis	OMIM:157800
Abetalipoproteinemia	Keratoconjunctivitis sicca, Ptosis	ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Pearson Syndrome	Growth delay, Postnatal growth retardation, Ptosis	ORPHA:699
Diamond-Blackfan Anemia	Growth delay, Epicanthus, Short stature, Ptosis	ORPHA:124
Specc1L-Related Hypertelorism Syndrome	Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:1519
Arima Syndrome	Growth delay, Ptosis	OMIM:243910
Thrombocytopenia-Absent Radius Syndrome	Short stature, Ptosis	OMIM:274000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Ptosis	OMIM:146255
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Intrauterine growth retardation, Ptosis	ORPHA:90348
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Myasthenic Syndrome, Congenital, 21, Presynaptic	Ptosis	OMIM:617239
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Cerebral atrophy, Ptosis	OMIM:124000
Microphthalmia, Syndromic 2	Short stature, Laterally curved eyebrow, Blepharophimosis, Thick eyebrow, Ptosis	OMIM:300166
Okamoto Syndrome	Long palpebral fissure, Severe postnatal growth retardation, Ptosis	ORPHA:2729
Cohen-Gibson Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:617561
Mowat-Wilson Syndrome	Short stature, Agenesis of corpus callosum, Downslanted palpebral fissures, Broad eyebrow, Ptosis	OMIM:235730
Zygomycosis	Chemosis, Ptosis	ORPHA:73263
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Growth delay, Ptosis, Delayed puberty	ORPHA:2072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Pulmonic stenosis, Dystonia	ORPHA:438213
Saethre-Chotzen Syndrome	Abnormal nasolacrimal system morphology, Ptosis, Short stature, Shallow orbits	OMIM:101400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Ptosis	ORPHA:365
Kawasaki Disease	Conjunctivitis, Ptosis	ORPHA:2331
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Short stature, Absent eyelashes, Growth delay, Brain atrophy, Ptosis	OMIM:308205
Joubert Syndrome 21	Ptosis	OMIM:615636
Bickerstaff Brainstem Encephalitis	Ptosis	ORPHA:79138
Joubert Syndrome 5	Ptosis	OMIM:610188
Branchiooculofacial Syndrome	Telecanthus, Postnatal growth retardation, Nasolacrimal duct obstruction, Upslanted palpebral fis...	OMIM:113620
Primrose Syndrome	Epicanthus, Short stature, Synophrys, Neurodegeneration, Delayed puberty, Downslanted palpebral f...	OMIM:259050
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Ptosis	OMIM:614231
Trichorhinophalangeal Syndrome, Type Ii	Growth delay, Mild postnatal growth retardation, Thick eyebrow, Ptosis	OMIM:150230
Pallister-Hall Syndrome	Short stature, Hypothalamic hamartoma, Intrauterine growth retardation, Downslanted palpebral fis...	ORPHA:672
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Upslanted palpebral fissure, Epicanthus, Short stature, Ptosis	OMIM:309580
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis	OMIM:161700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Charge Syndrome	Postnatal growth retardation, Ptosis, Downslanted palpebral fissures, Delayed puberty	OMIM:214800
Proteus Syndrome	Retinal hamartoma, Downslanted palpebral fissures, Ptosis	ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Telecanthus, Epicanthus, Short stature, Highly arched eyebrow, Lateral ventricle dilatation, Agen...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Abnormal eyelash morphology, A...	ORPHA:286
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Keratoconjunctivitis sicca, Ptosis	ORPHA:285
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Short stature, Lateral ventricle dilatation, Agenesis of corpus callosum, Broad eyeb...	ORPHA:261537
Viss Syndrome	Long palpebral fissure, Ectropion, Short stature, Ptosis	OMIM:619472
Craniofacial Microsomia 1	Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Agenesis of corpus callosum, Ptosis	OMIM:164210
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Rhizomelia, Sparse eyelashes, Mesomelic/rhizomelic limb shortening, Spar...	OMIM:601803
Singleton-Merten Syndrome 1	Short stature, Ptosis	OMIM:182250
Microphthalmia, Syndromic 1	Growth delay, Ptosis	OMIM:309800

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 Stambp

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 Stambp.

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

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MGI Allele	Allele Type	Produced
Stambp^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Stambp^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Stambp^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Stambp^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Stambp MGI:1917777

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Embryo LacZ

Adult LacZ

MicroCT E18.5

Human diseases caused by Stambp mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data