Gene Summary

Name:
kinesin family member 21A
Synonyms:
N-5 kinesin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Kif21atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased fasting circulating glucose level Kif21atm1b(EUCOMM)Hmgu HET Early adult 2.73×10-08

Download data as:  TSV  XLS

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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
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
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)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

1 Images

Human diseases caused by Kif21a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kif21a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibrosis Of Extraocular Muscles, Congenital, 1
Levator palpebrae superioris atrophy, Bilateral ptosis, Superior rectus atrophy, Congenital fibro... OMIM:135700

The table below shows human diseases predicted to be associated to Kif21a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Deafness, X-Linked 7
Thick eyebrow, Ptosis, Telecanthus OMIM:301018
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Myasthenic Syndrome, Congenital, 8
Ptosis, Facial palsy OMIM:615120
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis OMIM:258470
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Degeneration of anterior horn ce... OMIM:602433
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy, Ptosis OMIM:618197
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Ptosis, Facial palsy OMIM:253320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, EMG: myopathic abnormalities, Ptosis, Facial palsy OMIM:609283
Oculopharyngeal Muscular Dystrophy
Facial palsy, Limb muscle weakness, Progressive ptosis OMIM:164300
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Ptosis, Telecanthus DECIPHER:70
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Ptosis OMIM:614750
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Myasthenic Syndrome, Congenital, 18
Ptosis, Flexion contracture OMIM:616330
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Ptosis, Flexion contracture OMIM:616326
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Ptosis, Rimmed vacuoles, Fa... OMIM:618940
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616323
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis, Facial palsy, Scapular winging, Skeletal muscle atrophy OMIM:617069
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Abnormal cranial nerve morphology, Blepharophimosis, Synophrys, Thick eyeb... ORPHA:2057
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Camptodactyly of finger, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris... OMIM:600638
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Limb-girdle muscle weakness, Viral infection-induced rhabdomyolysis, Lower limb muscle weakness, ... ORPHA:329314
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Flexion contracture, Ptosis, Facial palsy, Skeletal muscle atrophy, Myopathy OMIM:616313
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Facial palsy, Nemaline bodies, Pt... OMIM:607684
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... OMIM:301830
Myasthenic Syndrome, Congenital, 10
Ptosis, Facial palsy, Distal amyotrophy, Proximal amyotrophy OMIM:254300
Myasthenic Syndrome, Congenital, 12
Ptosis, Facial palsy, Proximal amyotrophy OMIM:610542
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis, Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Ptosis ORPHA:126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Ptosis, Peripheral axonal neuropathy, Skeletal muscle atrophy OMIM:617070
Amyotrophy, Hereditary Neuralgic
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Ptosis, Skeletal muscle atrophy, Perip... OMIM:162100
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis OMIM:609384
Fazio-Londe Disease
Ptosis, Facial diplegia OMIM:211500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Ptosis, Frontalis muscle weakness, Facial pa... OMIM:300580
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ptosis, Rimmed vacuoles, Myopathy, Ragged-red muscle fibers ORPHA:270
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Paucity of anterior h... OMIM:611890
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Limb-girdle muscle weakness, Ptosis, Facial palsy, Generalized amyotrophy OMIM:615156
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Ptosis, My... OMIM:603034
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616325
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Ptosis, Epicanthus, Horizontal eyebrow OMIM:619311
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Salih Myopathy
Centrally nucleated skeletal muscle fibers, Flexion contracture, Ptosis, Facial palsy, Calf muscl... OMIM:611705
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Decreased size of nerve terminals, Decreased muscle mass, Typ... OMIM:608931
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis, Facial palsy OMIM:616324
Hypertrichosis Cubiti
Abnormal eyelid morphology, Abnormal eyelash morphology, Abnormal nasolacrimal system morphology,... ORPHA:2220
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Ptosis, Decreased size of nerve terminals OMIM:601462
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Spastic Ataxia 1, Autosomal Dominant
Ptosis, Leg muscle stiffness OMIM:108600
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Mental Retardation, Autosomal Dominant 30
Ptosis OMIM:616083
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy, Ptosis OMIM:616321
Myasthenic Syndrome, Congenital, 21, Presynaptic
Ptosis, Facial palsy, Knee flexion contracture OMIM:617239
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Peripheral axonal neuropathy, Abnormal upper motor neuron morphology, Orthost... OMIM:263570
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Ptosis, Interphalangeal joint contracture of finger, Knee flexion contracture OMIM:606242
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Facial palsy OMIM:616322
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Myopathy With Extrapyramidal Signs
Ptosis, Peripheral axonal neuropathy, Optic atrophy OMIM:615673
Sclerosteosis
Ptosis, Facial palsy, Optic atrophy ORPHA:3152
Ring Chromosome 1 Syndrome
Downslanted palpebral fissures, Ptosis, Telecanthus ORPHA:1437
Craniosynostosis 3
Ptosis OMIM:615314
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Ptosis, Multipl... ORPHA:424107
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:616437
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of vincrist... OMIM:118301
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Achilles te... ORPHA:254361
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Ptosis, Myopathy OMIM:605637
Myasthenic Syndrome, Congenital, 19
Ptosis, Facial palsy OMIM:616720
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Ptosis, Facial palsy OMIM:608930
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Sensory a... ORPHA:52430
Microcephaly 16, Primary, Autosomal Recessive
Ptosis, Telecanthus, Knee flexion contracture OMIM:616681
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Decreased size of nerve terminals, Hip flexor weakness, Weakness of... ORPHA:98913
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ptosis, Abnormal auditory evoked potentials, Myopathy, Optic atrophy, Increased variability in mu... OMIM:125250
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Ptosis, Periph... ORPHA:401768
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Combined Oxidative Phosphorylation Deficiency 20
Ptosis OMIM:615917
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Arthrogryposis, Distal, Type 7
Arthrogryposis multiplex congenita, Distal arthrogryposis, Ptosis OMIM:158300
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Cluster Headache, Familial
Ptosis OMIM:119915
Fibrosis Of Extraocular Muscles, Congenital, 1
Levator palpebrae superioris atrophy, Bilateral ptosis, Superior rectus atrophy, Congenital fibro... OMIM:135700
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Facial palsy ORPHA:2743
Whistling Face Syndrome, Recessive Form
Blepharophimosis, Camptodactyly, Epicanthus, Ptosis, Short palpebral fissure, Knee flexion contra... OMIM:277720
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis OMIM:618436
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Epicanthus, Aganglionic megacolon, Ptosis, Downslanted palpebral fissures OMIM:613603
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Myopathy, Congenital, Bailey-Bloch
Blepharophimosis, Flexion contracture, Ptosis, Short palpebral fissure, Skeletal muscle atrophy, ... OMIM:255995
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Epicanthus, Ptosis, Short palpebral fissure, Downslanted palpebral fissures OMIM:614230
Mental Retardation, Autosomal Dominant 29
Downslanted palpebral fissures, Ptosis, Synophrys OMIM:616078
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Facial palsy, Pt... ORPHA:97229
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Ragged-red muscle fibers, Sensory axonal neuropathy, Ptos... ORPHA:254886
Coffin-Siris Syndrome 8
Thick eyebrow, Ptosis, Long eyelashes OMIM:618362
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Ptosis, Epicanthus ORPHA:1373
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis, Peripheral axonal neuropathy OMIM:610743
Mental Retardation, Autosomal Dominant 26
Highly arched eyebrow, Arthrogryposis multiplex congenita, Thick eyebrow, Short palpebral fissure... OMIM:615834
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Ascher Syndrome
Upper eyelid edema, Ptosis, Abnormal eyelid morphology, Blepharophimosis ORPHA:1253
Char Syndrome
Highly arched eyebrow, Thick eyebrow, Ptosis OMIM:169100
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Blepharophimosis, Synophrys, Thick eyebrow, Ptosis, Frontalis muscle weakness OMIM:210745
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:218000
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Ptosis, Abnormal mitochondria in muscle tissue ORPHA:663
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Myasthenic Syndrome, Congenital, 16
Ptosis OMIM:614198
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:255200
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Ptosis, Optic atrophy OMIM:618238
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Ptosis ORPHA:1875
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Shoulder girdle muscle wea... OMIM:606070
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Progressive ptosis, Abnormality of masseter muscle, Proximal m... ORPHA:98897
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Legius Syndrome
Downslanted palpebral fissures, Ptosis, Epicanthus, Neurofibromas OMIM:611431
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Generalized amyotrophy, Ptosis, Abnormal lower motor neur... ORPHA:275872
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Ptosis, Limb muscle weakness OMIM:605809
Mental Retardation, Autosomal Dominant 57
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Ptosis, Telecanthus OMIM:618050
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Axonal loss, Ptosis OMIM:618170
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Waardenburg Syndrome Type 2
Ptosis, Aganglionic megacolon, Telecanthus ORPHA:895
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Ptosis, Downslanted palpebral fissures ORPHA:3038
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Limb-girdle muscle weakness, Multiple joint contractures, Congenital ptosis ORPHA:352470
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Ptosis OMIM:254210
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Epicanthus, Thick eyebrow, Ptosis, Telecanthus OMIM:617268
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Temporal optic disc pallor, Absent brainstem auditory responses, Mot... ORPHA:1215
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Weakness of facial musculature OMIM:618637
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Ptosis, Telecanthus, Blepharophimosis OMIM:606772
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis, Amyotrophic lateral sclerosis OMIM:615911
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Sensory axonal neuropathy, Ptosis, Facial palsy, Generalized amyotr... OMIM:258450
Purpura Simplex
Ptosis OMIM:179000
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Cardiofaciocutaneous Syndrome 2
Ptosis, Peripheral axonal neuropathy, Absent eyebrow OMIM:615278
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Ptosis, Long eyelashes, Optic disc pallor OMIM:617523
Autosomal Dominant Spastic Ataxia Type 1
Ptosis, Abnormal eyelid morphology, Leg muscle stiffness ORPHA:251282
Facial Paresis, Hereditary Congenital, 3
Ptosis, Facial palsy, Epicanthus OMIM:614744
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Combined Oxidative Phosphorylation Deficiency 7
Ptosis, Optic atrophy, Facial diplegia, Skeletal muscle atrophy OMIM:613559
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Ptosis OMIM:120433
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Arthrogryposis multiplex congenita, Scapular winging, Camptodactyly, Flexion contracture, Ptosis,... OMIM:617468
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis ORPHA:438178
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:105550
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Bilateral ptosis, Skeletal muscle atrophy ORPHA:330050
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Optic atrophy, Bilateral ptosis OMIM:214980
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Ptosis, Optic atrophy, Congenital finger flexion contractures ORPHA:1154
Mitochondrial Dna Depletion Syndrome 11
Ptosis, Facial palsy, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Ptosis, Epicanthus ORPHA:2958
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Proximal Xq28 Duplication Syndrome
Ptosis, Epicanthus, Blepharophimosis ORPHA:1762
Joubert Syndrome 26
Ptosis OMIM:616784
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ptosis, Optic atrophy, Epicanthus, Tethered cord OMIM:618164
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis, Telecanthus, Absent lacrimal punctum ORPHA:228396
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Macroglossia, Ptosis, Optic atrophy, Rhabdomyolysis OMIM:251900
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Ptosis, Distal amyotrophy ORPHA:3454
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Ptosis, Facial diplegia, Generalized limb muscle atrophy, Foot dorsif... ORPHA:521411
Fibrosis Of Extraocular Muscles, Congenital, 2
Bilateral ptosis, Congenital fibrosis of extraocular muscles OMIM:602078
Shashi-Pena Syndrome
Highly arched eyebrow, Ptosis OMIM:617190
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Ptosis, Downslanted palpebral fi... OMIM:300590
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Ptosis, Optic nerve hypoplasia, Spina bifida occulta OMIM:618736
Prieto X-Linked Mental Retardation Syndrome
Ptosis, Epicanthus OMIM:309610
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Downslanted palpebral fissures, Ptosis, Epicanthus, Synophrys ORPHA:1390
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Rare Non-Syndromic Intellectual Disability
Ptosis ORPHA:101685
Borjeson-Forssman-Lehmann Syndrome
Ptosis, Narrow palpebral fissure, Blepharophimosis OMIM:301900
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Arthrogryposis multiplex congenita, Upslanted palpebral fissure, Epicanthu... ORPHA:352490
Frontoocular Syndrome
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Ptosis, Short palpebral fissure OMIM:605321
Spinocerebellar Ataxia 28
Ptosis OMIM:610246
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord,... ORPHA:35689
Hypotonia-Cystinuria Syndrome
Ptosis, Epicanthus ORPHA:163690
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Lower limb muscle weakness, Abnormal mitochondria in muscle tissue, Distal amyotrophy, Ptosis, Pe... ORPHA:313772
Non-Distal Monosomy 10Q
Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys ORPHA:1581
Terminal Osseous Dysplasia
Camptodactyly of finger, Camptodactyly of toe, Epicanthus, Ptosis, Multiple joint contractures, T... OMIM:300244
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Ptosis, Long eyelashes, Optic disc pallor OMIM:619076
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis OMIM:110150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Ptosis OMIM:615895
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Ptosis, Optic atrophy ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alph... OMIM:615351
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormality of the spinocerebellar tracts, Limb muscle weakness, Skeletal muscle atrophy, Bilater... ORPHA:329336
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis, EMG: myopathic abnormalities ORPHA:457365
Au-Kline Syndrome
Downslanted palpebral fissures, Long palpebral fissure, Ptosis, Sparse lateral eyebrow OMIM:616580
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis, Skeletal muscle atrophy ORPHA:2013
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downslanted palpebral fissures, Bilateral ptosis OMIM:618859
Arthrogryposis, Distal, Type 5
Arthrogryposis multiplex congenita, Decreased muscle mass, Blepharophimosis, Congenital finger fl... OMIM:108145
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Abnormality of the dorsal column of the spinal cord, Flexion contracture, P... ORPHA:137898
Chromosome 16P13.3 Duplication Syndrome
Upslanted palpebral fissure, Ptosis, Camptodactyly OMIM:613458
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Adult Intestinal Botulism
Ptosis ORPHA:178487
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Ptosis, Telecanthus, Blepharophimosis ORPHA:397973
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Ptosis, Epicanthus ORPHA:1825
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ptosis, Short palpebral fissure, Synophrys ORPHA:2471
Proteus Syndrome
Downslanted palpebral fissures, Spinal cord compression, Ptosis, Limbal dermoid OMIM:176920
Cardiofaciocutaneous Syndrome 4
Epicanthus, Absent eyebrow, Ptosis, Optic nerve hypoplasia, Telecanthus OMIM:615280
Cataract, Aberrant Oral Frenula, And Growth Retardation
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Ptosis, Short palpebral fissure OMIM:115645
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens... ORPHA:298
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Ptosis OMIM:126190
Carey-Fineman-Ziter Syndrome
Flexion contracture, Epicanthus, Pectoralis hypoplasia, Ptosis, Facial palsy, Skeletal muscle atr... OMIM:254940
Meckel Syndrome, Type 10
Ptosis, Narrow palpebral fissure, Epicanthus OMIM:614175
Waardenburg Syndrome Type 1
Spina bifida, White eyebrow, Aganglionic megacolon, Synophrys, Meningocele, Thick eyebrow, Ptosis... ORPHA:894
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ptosis, Optic atrophy OMIM:618226
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Distal Trisomy 15Q
Camptodactyly of finger, Blepharophimosis, Congenital muscular torticollis, Ptosis, Downslanted p... ORPHA:1707
Hartsfield Syndrome
Downslanted palpebral fissures, Ptosis, Telecanthus ORPHA:2117
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Trisomy 5P
Ptosis ORPHA:1742
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
Li-Campeau Syndrome
Downslanted palpebral fissures, Thick eyebrow, Ptosis, Telecanthus OMIM:619189
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Downslanted palpebral fissures, Camptodactyly, Ptosis, Blepharophimosis OMIM:617333
Meier-Gorlin Syndrome 8
Ptosis OMIM:617564
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination OMIM:221770
X-Linked Dominant Chondrodysplasia Punctata
Ptosis, Optic atrophy, Epicanthus ORPHA:35173
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Long palpebral fissure, Ptosis, Telecanthus OMIM:614583
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis OMIM:618225
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Epicanthus, Ptosis, Facial diplegia, Lim... OMIM:618186
Myopathy, Congenital, Progressive, With Scoliosis
Ptosis, Facial hypotonia, Congenital contracture, Skeletal muscle atrophy OMIM:618578
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ptosis, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1933
Mosaic Trisomy 14
Camptodactyly of finger, Ptosis, Blepharophimosis ORPHA:1703
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Lower limb muscle weakness, Decreased number of peripheral myelinated nerve fibe... ORPHA:254930
Combined Oxidative Phosphorylation Deficiency 32
Ptosis, Optic atrophy, Flexion contracture OMIM:617664
X-Linked Centronuclear Myopathy
Ptosis, Skeletal muscle atrophy ORPHA:596
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Isolated Congenital Alacrima
Lacrimal punctal atresia, Lacrimal gland hypoplasia, Conjunctivitis, Ptosis, Distichiasis ORPHA:91416
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Bilateral ptosis OMIM:618856
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Pauci... OMIM:253310
Warburg Micro Syndrome 1
Ptosis, Optic atrophy OMIM:600118
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Synophrys, Ptosis OMIM:613792
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:638
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Sensory axonal neuropathy, Ptosis, Muscle fiber necrosis, Atrophy/Degeneration involving the spin... OMIM:607459
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Ptosis, Epicanthus, Blepharophimosis ORPHA:3236
Leigh Syndrome With Leukodystrophy
Ptosis, Optic atrophy ORPHA:255241
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Skeletal muscle atrophy, Myopathy, Bilateral ptosis, Weakness of facial ... ORPHA:254875
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
Combined Oxidative Phosphorylation Deficiency 24
Ptosis, Facial palsy, Skeletal muscle atrophy, Myopathy, Optic atrophy OMIM:616239
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ptosis, Palpebral edema ORPHA:1259
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Sensory axonal neuropathy, Ptosis, Ragged-red muscle fibers, Limb m... OMIM:609286
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Mental Retardation, Autosomal Dominant 23
Downslanted palpebral fissures, Upslanted palpebral fissure, Ptosis, Synophrys OMIM:615761
Chromosome 5Q12 Deletion Syndrome
Long palpebral fissure, Ptosis OMIM:615668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Sensory axonal neuropathy, Ptosis, Facial palsy, Sk... OMIM:157640
Congenital Disorder Of Glycosylation, Type Iio
Downslanted palpebral fissures, Ptosis, Skeletal muscle atrophy OMIM:616828
Frontofacionasal Dysplasia
Blepharophimosis, Upper eyelid coloboma, Ptosis, Telecanthus, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1791
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Ptosis OMIM:616592
Spinocerebellar Ataxia-Dysmorphism Syndrome
Ptosis, Optic atrophy, Epicanthus, Spina bifida occulta ORPHA:1185
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Myasthenic Syndrome, Congenital, 24, Presynaptic
Camptodactyly, Ptosis, Knee flexion contracture OMIM:618198
Orthostatic Hypotension 1
Ptosis, Orthostatic hypotension OMIM:223360
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Ptosis, Multiple joint contractures, Optic disc pallor ORPHA:363429
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Ptosis, Facial palsy, Skeletal muscle atrophy, Downslanted palp... ORPHA:3068
Myasthenia Gravis
Ptosis, Facial palsy, Limb muscle weakness OMIM:254200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ptosis, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature ORPHA:352447
Mental Retardation, Autosomal Recessive 65
Downslanted palpebral fissures, Ptosis OMIM:618109
Mental Retardation, Buenos Aires Type
Downslanted palpebral fissures, Curly eyelashes, Ptosis, Long eyelashes OMIM:249630
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Sparse eyebrow, Blepharophimosis, Narrow palpebral fissure, Epicanthus, Lo... OMIM:619293
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Rhyns Syndrome
Ptosis ORPHA:140976
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Flexion contracture of finger, Blepharophimosis, Ca... OMIM:193700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ptosis, Skeletal muscle atrophy OMIM:616479
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Long eyelashes, Synophrys, Ptosis, Telecanthus OMIM:300882
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Temporal optic disc pallor, Ptosis, Skeletal muscle atrophy, Myopathy, Optic at... ORPHA:98673
Machado-Joseph Disease Type 3
Neurogenic bladder, Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, D... ORPHA:276244
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Ptosis, Nemaline bodies, Flexion contracture OMIM:616549
Joubert Syndrome 35
Highly arched eyebrow, Ptosis, Telecanthus, Synophrys OMIM:618161
Coffin-Siris Syndrome 5
Thick eyebrow, Ptosis, Long eyelashes OMIM:616938
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis OMIM:312170
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Ptosis OMIM:614924
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Upslanted palpebral fissure, Camptodactyly, Epicanthus, Short palpebral fissure, Ptosis OMIM:617360
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Ptosis, Left ventricular hypertrophy OMIM:617713
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Ptosis, Epicanthus, Synophrys OMIM:617062
Teebi Hypertelorism Syndrome
Downslanted palpebral fissures, Highly arched eyebrow, Upslanted palpebral fissure, Ptosis OMIM:145420
Thymic Tumor
Neuroendocrine neoplasm, Ptosis, Palpebral edema ORPHA:100100
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Camptodactyly, Epicanthus, Ptosis, Joint contracture of the hand OMIM:136760
Widow'S Peak Syndrome
Ptosis OMIM:314570
Paroxysmal Hemicrania
Ptosis, Conjunctival hyperemia, Palpebral edema ORPHA:157835
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Upslanted palpebral fissure, Ptosis, Epicanthus inversus ORPHA:2988
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Tetrasomy 12P
Upslanted palpebral fissure, Ptosis, Sparse and thin eyebrow, Telecanthus ORPHA:884
Spastic Ataxia 5, Autosomal Recessive
Ptosis, Increased intramyocellular lipid droplets, Skeletal muscle atrophy OMIM:614487
Hypotonia-Cystinuria Syndrome
Ptosis, Facial palsy, Long eyelashes OMIM:606407
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Chromosome 2P16.1-P15 Deletion Syndrome
Blepharophimosis, Camptodactyly, Epicanthus, Short palpebral fissure, Optic nerve hypoplasia, Pto... OMIM:612513
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Ptosis OMIM:618155
Macrocephaly And Epileptic Encephalopathy
Downslanted palpebral fissures, Ptosis OMIM:606369
Wieacker-Wolff Syndrome
Congenital foot contractures, Arthrogryposis multiplex congenita, Upslanted palpebral fissure, Ca... OMIM:314580
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Upslanted palpebral fissure, Ptosis, Epicanthus OMIM:613627
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Optic atrophy OMIM:607694
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Ptosis, Cranial nerve motor loss, Facial palsy OMIM:211530
Perlman Syndrome
Ptosis, Epicanthus ORPHA:2849
Neonatal Adrenoleukodystrophy
Ptosis, Optic atrophy ORPHA:44
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Decreased size of nerve terminals, Scapular winging, Type 1 muscle fiber pr... ORPHA:98915
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Ptosis, Optic atrophy ORPHA:93262
11Q22.2Q22.3 Microdeletion Syndrome
Thick eyebrow, Ptosis, Epicanthus ORPHA:444002
Mcdonough Syndrome
Diastasis recti, Upslanted palpebral fissure, Ptosis, Synophrys OMIM:248950
Crouzon Disease
Conjunctivitis, Ptosis, Optic atrophy ORPHA:207
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Downslanted palpebral fissures, Ptosis, Epicanthus, Telecanthus ORPHA:1778
Chromosome 3Q13.31 Deletion Syndrome
Ptosis, Epicanthus OMIM:615433
Fetal Trimethadione Syndrome
Ptosis, Epicanthus, Synophrys ORPHA:1913
Mental Retardation, Autosomal Dominant 34
Upslanted palpebral fissure, Epicanthus, Synophrys, Bilateral ptosis OMIM:616351
Leigh Syndrome
Ptosis, Optic atrophy OMIM:256000
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Long eyelashes, Synophrys, Ptosis, Downslanted palpebral fissures OMIM:615009
Machado-Joseph Disease
Ptosis, Spinocerebellar tract degeneration, Abnormal autonomic nervous system physiology, Distal ... OMIM:109150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis, Generalized amyotrophy OMIM:613561
Developmental And Epileptic Encephalopathy 84
Blepharophimosis, Epicanthus, Synophrys, Ptosis, Short palpebral fissure OMIM:618792
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Parkinsonism-Dystonia, Infantile, 2
Ptosis, Abnormal autonomic nervous system physiology OMIM:618049
Autosomal Recessive Ataxia, Beauce Type
Chronic axonal neuropathy, Lower limb muscle weakness, Sensory axonal neuropathy, Ptosis, Skeleta... ORPHA:88644
Freeman-Sheldon Syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Ptosis ORPHA:2053
Schwartz-Jampel Syndrome, Type 1
Blepharophimosis, Skeletal muscle hypertrophy, Narrow palpebral fissure, Long eyelashes in irregu... OMIM:255800
Microcephaly-Capillary Malformation Syndrome
Ptosis, Optic atrophy, Right ventricular hypertrophy OMIM:614261
Hadziselimovic Syndrome
Ptosis, Epicanthus OMIM:612946
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Ptosis, Sparse and thin eyebrow ORPHA:66629
Wolfram Syndrome 1
Neurogenic bladder, Ptosis, Optic atrophy OMIM:222300
Joubert Syndrome 14
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis, Epicanthus OMIM:614424
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Axillary pterygium, Arthrogryposis multiplex congenita, Camptodactyly of finge... ORPHA:2990
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Facial hypotonia, Epicanthus, Ptosis, Downslanted palpebral fissures, Hip contracture OMIM:616801
Joubert Syndrome 3
Highly arched eyebrow, Ptosis, Epicanthus OMIM:608629
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Downslanted palpebral fissures, Ptosis, Flexion contracture, Blepharophimosis ORPHA:391372
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Ptosis, Op... OMIM:615663
2Q23.1 Microduplication Syndrome
Highly arched eyebrow, Bilateral ptosis, Long eyelashes ORPHA:313947
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ptosis, Tortuosity of conjunctival vessels, Leg muscle stiffness ORPHA:284289
4Q21 Microdeletion Syndrome
Ptosis, Long eyelashes, Synophrys ORPHA:238750
Infantile Sialic Acid Storage Disease
Ptosis, Epicanthus OMIM:269920
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Ptosis, Spina bifida occulta, Eyelid coloboma OMIM:268850
Pure Mitochondrial Myopathy
Scapular winging, Proximal amyotrophy, Quadriceps muscle weakness, Rhabdomyolysis, Pelvic girdle ... ORPHA:254854
Basel-Vanagaite-Smirin-Yosef Syndrome
Downslanted palpebral fissures, Ptosis, Epicanthus OMIM:616449
Combined Oxidative Phosphorylation Deficiency 47
Ptosis OMIM:618958
Wagr Syndrome
Ptosis ORPHA:893
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Ptosis, Facial palsy OMIM:617143
Carey-Fineman-Ziter Syndrome
Epicanthus, Aplasia of the pectoralis major muscle, Ptosis, Facial palsy, Skeletal muscle atrophy... ORPHA:1358
Wieacker-Wolff Syndrome, Female-Restricted
Flexion contracture, Achilles tendon contracture, Ptosis, Facial palsy, Hip contracture, Weakness... OMIM:301041
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Facial hypotonia, Upslanted palpebral fissure, Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:618659
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Lacrimal gland hypoplasia, Blepharophimosis, Duplicated lacrimal punctum, ... ORPHA:572333
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly, ... OMIM:615065
Acrocraniofacial Dysostosis
Downslanted palpebral fissures, Ptosis, Abnormal auditory evoked potentials OMIM:201050
Arthrogryposis, Distal, Type 1A
Arthrogryposis multiplex congenita, Camptodactyly, Ptosis, Knee flexion contracture, Joint contra... OMIM:108120
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Flexion contracture, Long eyelashes, Ptosis, Hip contracture,... OMIM:617301
Rere-Related Neurodevelopmental Syndrome
Blepharophimosis, Epicanthus, Broad eyebrow, Ptosis, Optic atrophy ORPHA:494344
Non-Specific Early-Onset Epileptic Encephalopathy
Downslanted palpebral fissures, Ptosis, Optic atrophy, Limb hypertonia ORPHA:442835
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Camptodactyly of finger, Ptosis, Aplasia/Hypoplasia of the eyebrow, Downslanted ... ORPHA:1784
Noonan Syndrome 9
Downslanted palpebral fissures, Ptosis, Sparse eyebrow OMIM:616559
Fountain Syndrome
Spina bifida, Epicanthus, Synophrys, Thick eyebrow, Ptosis, Spina bifida occulta ORPHA:3219
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Keipert Syndrome
Ptosis, Epicanthus ORPHA:2662
Acromelic Frontonasal Dysostosis
Downslanted palpebral fissures, Ptosis, Telecanthus OMIM:603671
Mungan Syndrome
Abnormality of the autonomic nervous system, Bilateral ptosis OMIM:611376
Coach Syndrome 3
Ptosis OMIM:619113
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Arthrogryposis multiplex congenita, Camptodactyly, Ptosis, Knee flexion contra... OMIM:178110
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly... OMIM:114300
Ohdo Syndrome
Ptosis, Epicanthus, Blepharophimosis, Sparse and thin eyebrow OMIM:249620
Sunct Syndrome
Palpebral edema, Ptosis, Conjunctival hyperemia ORPHA:57145