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
decreased fasting circulating glucose level Kif21atm1b(EUCOMM)Hmgu HET Early adult 1.74×10-09
preweaning lethality, complete penetrance Kif21atm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
bone marrow 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
epididymis 13.48% (19 of 141)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 554)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
submandibular gland 1.49% (2 of 134)
testis 1.08% (6 of 553)
thalamus 0.0%
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
urinary bladder 0.0%
uterus 0.35% (2 of 566)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Adult LacZ

LacZ Images Section

33 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

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

7 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
Bilateral ptosis, Levator palpebrae superioris atrophy, 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
Eyelid retraction, Ptosis, Abnormal eyelid morphology 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
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Myasthenic Syndrome, Congenital, 8
Facial palsy, Ptosis OMIM:615120
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis OMIM:258470
Oculopharyngeal Muscular Dystrophy
Progressive ptosis, Facial palsy, Limb muscle weakness, Ptosis OMIM:164300
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Pyknoachondrogenesis
Stillbirth OMIM:265880
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy, Ptosis OMIM:618197
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy, Ptosis OMIM:253320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ptosis, Ragged-red muscle fibers OMIM:609283
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Ptosis, Telecanthus DECIPHER:70
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Ptosis OMIM:614750
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Myopathy, Centronuclear, 1
Ptosis, Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 mu... OMIM:160150
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Epicanthus, Synophrys, Blepharophimosis, Ptosis ORPHA:126
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616323
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... OMIM:602433
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Levator palpebrae superioris atrophy, Joint contracture of the hand, Camptodactyly of finger, Per... OMIM:600638
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Facial palsy, Scapular winging, Ptosis OMIM:617069
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Thick eyebrow, Highly arched eyebrow, Abnormal cranial nerve morphology, Synophrys, Blepharophimo... ORPHA:2057
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Limb-girdle muscle atrophy, Limb-girdle muscle weakness, Pelvic girdle muscle weakness, Sensory a... ORPHA:329314
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Flexion contracture, Facial palsy, Skeletal muscle atrophy, Myopathy, Ptosis OMIM:616313
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral narrow palpebral fissure, Unilateral ptosis OMIM:182875
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Spinal mus... OMIM:301830
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... OMIM:607684
Myasthenic Syndrome, Congenital, 12
Facial palsy, Ptosis, Proximal amyotrophy OMIM:610542
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy, Peripheral axonal neuropathy, Ptosis OMIM:617070
Fazio-Londe Disease
Facial diplegia, Ptosis OMIM:211500
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Peripheral axonal neuropathy, Ptosis OMIM:619465
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Myo... OMIM:300580
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Upslanted palpebral fissure, Peripheral axonal degeneration, Brachial plexus... OMIM:162100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Paucity of anterior horn motor neurons, Peripheral axonal neuropathy, Abnormal a... OMIM:611890
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Unilateral ptosis OMIM:300928
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ptosis ORPHA:270
Myasthenic Syndrome, Congenital, 5
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased m... OMIM:603034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial ... OMIM:619566
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616325
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Facial palsy, Limb-girdle muscle weakness, Generalized amyotrophy, Ptosis OMIM:615156
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Ha... OMIM:601462
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenit... OMIM:608931
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Distal lower limb ... ORPHA:171706
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Facial palsy, Ptosis OMIM:616324
Spastic Ataxia 1, Autosomal Dominant
Leg muscle stiffness, Ptosis OMIM:108600
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Hypertrichosis Cubiti
Thick eyebrow, Abnormal nasolacrimal system morphology, Downslanted palpebral fissures, Abnormal ... ORPHA:2220
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Neurogenic bladder, Abnormal upper motor neuron morphology, Peripheral a... OMIM:263570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contracture, Ptosis OMIM:606242
Myasthenic Syndrome, Congenital, 21, Presynaptic
Facial palsy, Knee flexion contracture, Ptosis OMIM:617239
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Ring Chromosome 1 Syndrome
Downslanted palpebral fissures, Ptosis, Telecanthus ORPHA:1437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Ptosis OMIM:616322
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Decreased nerve conduction velocity, Orthostatic hypotension, Degenerat... OMIM:118301
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, EMG: myopathic abnormalities, Rimmed va... ORPHA:52430
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Bilateral ptosis, Downslanted palpebral fissures, Hypomimic face OMIM:619701
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Peripheral axonal neuropathy, Optic atrophy, Cent... ORPHA:401768
Myasthenic Syndrome, Congenital, 19
Facial palsy, Ptosis OMIM:616720
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Knee flexion contracture, Ptosis OMIM:616681
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy, Ptosis OMIM:605637
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, Decreased size of nerve terminals, EMG: myopathic abnormalities, Upper limb mus... ORPHA:98913
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Arthrogryposis, Distal, Type 7
Distal arthrogryposis, Arthrogryposis multiplex congenita, Ptosis OMIM:158300
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita, Ptosis OMIM:608930
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Levator palpebrae superioris atrophy, Superior rectus atrophy, Congenital fibro... OMIM:135700
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Combined Oxidative Phosphorylation Deficiency 20
Ptosis OMIM:615917
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis OMIM:618436
Cluster Headache, Familial
Ptosis OMIM:119915
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... ORPHA:171439
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:602099
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... OMIM:125250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Ptosis ORPHA:2743
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Camptodactyly, Telecanthus, Epicanthus, Shoulder flexion contracture, El... OMIM:277720
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... ORPHA:1145
Coffin-Siris Syndrome 8
Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Myopathy, Congenital, Bailey-Bloch
Short palpebral fissure, Flexion contracture, Downslanted palpebral fissures, Telecanthus, Skelet... OMIM:255995
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Optic disc pallor, Abnormal cranial nerve morpholog... ORPHA:97229
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Downslanted palpebral fissures, Epicanthus, Narrow palpebral fissure, Aganglionic megacolon, Ptosis OMIM:613603
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Proximal amyotrophy, Ptosis, Distal amyotrophy OMIM:254300
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Ptosis OMIM:610743
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Sensory axonal neuropathy, Optic at... ORPHA:254886
Char Syndrome
Highly arched eyebrow, Thick eyebrow, Ptosis OMIM:169100
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Frontalis muscle weakness, Synophrys, Blepharophimosis, Ptosis OMIM:210745
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Ptosis, Hypomimic face, Abnormal nerve conduction velocity OMIM:619862
Ascher Syndrome
Upper eyelid edema, Blepharophimosis, Abnormal eyelid morphology, Ptosis ORPHA:1253
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis ORPHA:663
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Ptosis ORPHA:330054
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Flexion contracture, Onion bulb for... OMIM:218000
Myasthenic Syndrome, Congenital, 16
Ptosis OMIM:614198
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot... ORPHA:275872
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Ptosis OMIM:616326
Legius Syndrome
Downslanted palpebral fissures, Epicanthus, Neurofibromas, Ptosis OMIM:611431
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Aplasia of the left hemidiaphragm, Ptosis OMIM:618238
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Blepharophimosis, Ptosis OMIM:606772
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... ORPHA:98897
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Thick eyebrow, Sparse eyebrow, Telecanthus, Epicanthus, Ptosis OMIM:617268
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Intellectual Developmental Disorder, Autosomal Dominant 26
Thick eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Downslanted palpebral fissur... OMIM:615834
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Optic atrophy, Ragged-red muscle fibers, Inc... OMIM:252011
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis OMIM:616321
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Ptosis ORPHA:1875
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy, Ptosis OMIM:605809
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Bilateral ptosis, Skeletal muscle atrophy ORPHA:330050
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Limb-girdle muscle weakness, Opt... ORPHA:1215
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Downslanted palpebral fissures, Unilateral narrow palpebral fissure, Ptosis ORPHA:3038
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis OMIM:110150
Facial Paresis, Hereditary Congenital, 3
Epicanthus, Facial palsy, Ptosis OMIM:614744
Waardenburg Syndrome Type 2
Telecanthus, Aganglionic megacolon, Ptosis ORPHA:895
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Ptosis OMIM:618637
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Optic disc pallor, Long eyelashes, Ptosis OMIM:617523
Purpura Simplex
Ptosis OMIM:179000
Proteus Syndrome
Downslanted palpebral fissures, Limbal dermoid, Spinal cord compression, Ptosis OMIM:176920
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Abnormal eyelid morphology, Ptosis ORPHA:251282
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Ptosis OMIM:254210
Cardiofaciocutaneous Syndrome 2
Peripheral axonal neuropathy, Absent eyebrow, Ptosis OMIM:615278
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:105550
Proximal Xq28 Duplication Syndrome
Epicanthus, Blepharophimosis, Ptosis ORPHA:1762
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ptosis, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Ptosis OMIM:120433
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis ORPHA:438178
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy, Skeletal muscle atrophy, Ptosis OMIM:613559
Rare Non-Syndromic Intellectual Disability
Ptosis ORPHA:101685
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Optic nerve hypoplasia, Spina bifida occulta, Ptosis OMIM:618736
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Camptodactyly of finger, Bilateral ptosis OMIM:214980
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis, Congenital finger flexion contractures ORPHA:1154
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Epicanthus, Tethered cord, Ptosis OMIM:618164
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder, Ptosis OMIM:615911
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Foot dorsiflexor weakness, Lower limb muscle weakness, Generalized limb muscle a... ORPHA:521411
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Rhabdomyolysis, Macroglossia, Ptosis OMIM:251900
Fibrosis Of Extraocular Muscles, Congenital, 2
Bilateral ptosis, Congenital fibrosis of extraocular muscles OMIM:602078
Joubert Syndrome 26
Ptosis OMIM:616784
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Thick eyebrow, Absent lacrimal punctum, Telecanthus, Absent eyelashes, Highly arched eyebrow, Ptosis ORPHA:228396
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthrogryposis, Elb... OMIM:617468
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis, Congenital foot contractures, Distal amyotrophy ORPHA:3454
Parkinsonism-Dystonia 2, Infantile-Onset
Hypomimic face, Abnormal autonomic nervous system physiology, Ptosis OMIM:618049
Cornelia De Lange Syndrome 2
Thick eyebrow, Downslanted palpebral fissures, Long eyelashes, Synophrys, Highly arched eyebrow, ... OMIM:300590
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Primary Lateral Sclerosis
Atrophy of the spinal cord, Motor axonal neuropathy, Cervical spinal cord atrophy, Abnormal upper... ORPHA:35689
Frontoocular Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis OMIM:605321
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Downslanted palpebral fissures, Epicanthus, Synophrys, Ptosis ORPHA:1390
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Downslanted palpebral fissures, Epicanthus, Sparse eyebrow, Ptosis OMIM:619989
Borjeson-Forssman-Lehmann Syndrome
Narrow palpebral fissure, Blepharophimosis, Ptosis OMIM:301900
Shashi-Pena Syndrome
Highly arched eyebrow, Ptosis OMIM:617190
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Thick eyebrow, Ptosis ORPHA:444002
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Long eyelashes, Flexion contracture, Ptosis OMIM:619076
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Peripheral axonal neuropathy, Lower limb muscle weakness, Distal amyotrophy, Abnormal mitochondri... ORPHA:313772
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Ptosis OMIM:620022
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Limb hypertonia, Skeletal muscle atrophy, Ptosis OMIM:619527
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:243180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... OMIM:615351
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Non-Distal Monosomy 10Q
Ptosis, Epicanthus, Synophrys, Upslanted palpebral fissure ORPHA:1581
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of toe, Camptodactyly of finger, Telecanthus, Epicanth... OMIM:300244
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... OMIM:619542
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Ptosis, Synophrys, Upslanted palpebral fissure OMIM:616083
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Ptosis ORPHA:2013
Au-Kline Syndrome
Downslanted palpebral fissures, Long palpebral fissure, Sparse lateral eyebrow, Ptosis OMIM:616580
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Li-Campeau Syndrome
Downslanted palpebral fissures, Thick eyebrow, Telecanthus, Ptosis OMIM:619189
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, EMG: myopathic abnormalities, Highly arched eyebrow, Ptosis ORPHA:457365
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis ORPHA:1825
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Arthrogryposis, Distal, Type 5
Ptosis, Congenital finger flexion contractures, Distal arthrogryposis, Epicanthus, Arthrogryposis... OMIM:108145
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Flexion contracture, Peripheral axonal neuro... ORPHA:137898
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness ORPHA:2590
Chromosome 16P13.3 Duplication Syndrome
Ptosis, Upslanted palpebral fissure, 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
Telecanthus, Blepharophimosis, Ptosis ORPHA:397973
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Abnormality of the extraocular musc... ORPHA:298
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Trisomy 5P
Ptosis ORPHA:1742
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Ptosis OMIM:126190
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Flexion contracture, Epicanthus, Arthrogryposis multiplex congenita, Limb joint ... OMIM:618186
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Synophrys, Short palpebral fissure, Ptosis ORPHA:2471
Cataract, Aberrant Oral Frenula, And Growth Retardation
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis OMIM:115645
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss OMIM:221770
Craniosynostosis 3
Ptosis OMIM:615314
Waardenburg Syndrome Type 1
Thick eyebrow, Telecanthus, White eyebrow, White eyelashes, Synophrys, Meningocele, Spina bifida,... ORPHA:894
Chromosome Xq13 Duplication Syndrome
Ptosis, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Almond-shaped palpebral... OMIM:301069
Distal Trisomy 15Q
Camptodactyly of finger, Downslanted palpebral fissures, Congenital muscular torticollis, Blephar... ORPHA:1707
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Ptosis OMIM:618226
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Downslanted palpebral fissures, Blepharophimosis, Ptosis, Camptodactyly OMIM:617333
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Flexion contracture, Ptosis OMIM:617664
Myopathy, Congenital, Progressive, With Scoliosis
Facial hypotonia, Congenital contracture, Skeletal muscle atrophy, Ptosis OMIM:618578
Hartsfield Syndrome
Downslanted palpebral fissures, Ptosis, Telecanthus ORPHA:2117
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... OMIM:205100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Decreased nerve conduction velocity, Ptosis ORPHA:1933
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Paucity of anterior horn motor neurons, A... OMIM:253310
Meier-Gorlin Syndrome 8
Ptosis OMIM:617564
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Ptosis OMIM:619422
Baraitser-Winter Syndrome 2
Telecanthus, Long palpebral fissure, Highly arched eyebrow, Ptosis OMIM:614583
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis OMIM:618225
Congenital Ptosis
Congenital facial diplegia, Unilateral narrow palpebral fissure, Congenital fibrosis of extraocul... ORPHA:91411
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Peripheral axonal neuropathy, Lower limb muscle weakness, Distal amyotrophy, Opt... ORPHA:254930
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Ptosis, Lower limb hypertonia OMIM:610246
Mosaic Trisomy 14
Camptodactyly of finger, Blepharophimosis, Ptosis ORPHA:1703
Chromosome 5Q12 Deletion Syndrome
Long palpebral fissure, Ptosis OMIM:615668
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... OMIM:617258
Intellectual Developmental Disorder, Autosomal Dominant 23
Downslanted palpebral fissures, Synophrys, Upslanted palpebral fissure, Ptosis OMIM:615761
Warburg Micro Syndrome 1
Optic atrophy, Ptosis OMIM:600118
X-Linked Emery-Dreifuss Muscular Dystrophy
Ptosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absen... ORPHA:98863
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Conjunctivitis, Ptosis ORPHA:91416
Emery-Dreifuss Muscular Dystrophy
Ptosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absen... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ptosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absen... ORPHA:98853
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Ptosis OMIM:612073
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:638
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
Leigh Syndrome With Leukodystrophy
Optic atrophy, Ptosis ORPHA:255241
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Blepharophimosis, Ptosis ORPHA:3236
Congenital Disorder Of Glycosylation, Type Iio
Downslanted palpebral fissures, Skeletal muscle atrophy, Ptosis OMIM:616828
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Facial palsy, Skeletal muscle atrophy, Myopathy, Ptosis OMIM:616239
Intellectual Developmental Disorder With Autism And Macrocephaly
Downslanted palpebral fissures, Ptosis OMIM:615032
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Peripheral axonal neuropathy, Abnormal lower motor neuron mo... ORPHA:276244
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Epicanthus, Spina bifida occulta, Ptosis ORPHA:1185
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ptosis OMIM:616479
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... ORPHA:1791
Blepharophimosis-Impaired Intellectual Development Syndrome
Thick eyebrow, Flexion contracture, Sparse eyebrow, Sparse eyelashes, Highly arched eyebrow, Epic... OMIM:619293
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Ptosis OMIM:616592
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Optic disc pallor, Multiple joint contractures, Ptosis ORPHA:363429
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis, Knee flexion contracture, Camptodactyly OMIM:618198
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Sensory axonal neuropathy, Ragged-red muscle fibers, Limb muscle we... OMIM:609286
Mental Retardation, Buenos Aires Type
Downslanted palpebral fissures, Long eyelashes, Curly eyelashes, Ptosis OMIM:249630
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Ptosis ORPHA:352447
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Downslanted palpebral fissures, Facial palsy, Skeletal muscle a... ORPHA:3068
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Myoclonus, Intractable, Neonatal
Ptosis OMIM:617235
Cornelia De Lange Syndrome 5
Telecanthus, Long eyelashes, Synophrys, Highly arched eyebrow, Ptosis OMIM:300882
Rhyns Syndrome
Ptosis ORPHA:140976
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Highly arched eyebrow, Synophrys, Ptosis OMIM:617062
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Long eyelashes, Ptosis OMIM:606407
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Autosomal Dominant Optic Atrophy, Classic Form
Weakness of facial musculature, Temporal optic disc pallor, Optic atrophy, Scapular winging, Skel... ORPHA:98673
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Sparse eyelashes, Optic nerve hypoplasia, Telecanthus, Epicanthus, Ptosis OMIM:615280
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Epicanthus inversus, Highly arched eyebrow, Ptosis, Upslanted palpebral fissure ORPHA:2988
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Ptosis OMIM:617713
Coffin-Siris Syndrome 5
Long eyelashes, Thick eyebrow, Ptosis OMIM:616938
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Ptosis OMIM:614924
Myasthenia Gravis
Facial palsy, Limb muscle weakness, Ptosis OMIM:254200
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis OMIM:312170
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Nemaline bodies, Flexion contracture, Ptosis OMIM:616549
Joubert Syndrome 35
Telecanthus, Highly arched eyebrow, Synophrys, Ptosis OMIM:618161
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Thymic Tumor
Neuroendocrine neoplasm, Palpebral edema, Ptosis ORPHA:100100
Macrocephaly And Epileptic Encephalopathy
Downslanted palpebral fissures, Ptosis OMIM:606369
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis OMIM:610539
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Chromosome 3Pter-P25 Deletion Syndrome
Upslanted palpebral fissure, Epicanthus, Synophrys, Blepharophimosis, Highly arched eyebrow, Ptosis OMIM:613792
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Ptosis OMIM:618155
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Joint contracture of the hand, Spina bifida occul... OMIM:193700
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Hengel-Maroofian-Schols Syndrome
Epicanthus, Thick eyebrow, Synophrys, Ptosis OMIM:619641
Tetrasomy 12P
Telecanthus, Upslanted palpebral fissure, Sparse eyebrow, Ptosis ORPHA:884
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Epicanthus, Ptosis, Upslanted palpebral fissure OMIM:613627
Paroxysmal Hemicrania
Palpebral edema, Ptosis, Conjunctival hyperemia ORPHA:157835
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Sparse lateral eyebrow, Ptosis OMIM:619955
Schuurs-Hoeijmakers Syndrome
Downslanted palpebral fissures, Long eyelashes, Synophrys, Highly arched eyebrow, Ptosis OMIM:615009
Chromosome 2P16.1-P15 Deletion Syndrome
Short palpebral fissure, Joint contracture of the hand, Optic nerve hypoplasia, Camptodactyly, Do... OMIM:612513
Widow'S Peak Syndrome
Ptosis OMIM:314570
Spastic Ataxia 5, Autosomal Recessive
Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Ptosis OMIM:614487
Wieacker-Wolff Syndrome
Congenital foot contractures, Upslanted palpebral fissure, Camptodactyly, Distal amyotrophy, Arth... OMIM:314580
Frontonasal Dysplasia 1
Joint contracture of the hand, Camptodactyly, Epicanthus, Pectoral muscle hypoplasia/aplasia, Ptosis OMIM:136760
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Brown-Vialetto-Van Laere Syndrome 1
Cranial nerve motor loss, Facial palsy, Hand muscle atrophy, Ptosis OMIM:211530
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis ORPHA:44
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Ptosis OMIM:615433
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Decreased size of nerve terminals, Right ventricular hypertrophy, Type 2 mu... ORPHA:98915
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Epicanthus, Synophrys, Upslanted palpebral fissure OMIM:616351
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Epicanthus, Synophrys, Blepharophimosis, Ptosis OMIM:618792
Freeman-Sheldon Syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Ptosis ORPHA:2053
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Joint contracture of the hand, Skeletal muscle hypertrophy, Quadriceps muscle we... OMIM:255800
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis, Axonal loss OMIM:618170
Mcdonough Syndrome
Diastasis recti, Synophrys, Upslanted palpebral fissure, Ptosis OMIM:248950
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Ptosis ORPHA:93262
Charcot-Marie-Tooth Disease Type 4B2
Hand muscle weakness, Proximal muscle weakness in lower limbs, Weakness of facial musculature, My... ORPHA:99956
Fetal Trimethadione Syndrome
Epicanthus, Synophrys, Ptosis ORPHA:1913
Joubert Syndrome 14
Downslanted palpebral fissures, Epicanthus, Highly arched eyebrow, Ptosis OMIM:614424
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Peripheral axonal neuropathy, Optic atrophy, Epicanthus, Ptosis OMIM:615673
Crouzon Syndrome
Optic atrophy, Conjunctivitis, Ptosis ORPHA:207
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Downslanted palpebral fissures, Epicanthus, Facial hypotonia, Ptosis OMIM:616801
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Downslanted palpebral fissures, Epicanthus, Telecanthus, Ptosis ORPHA:1778
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Leukodystrophy, Hypomyelinating, 20
Torticollis, Ptosis OMIM:619071
Hadziselimovic Syndrome
Epicanthus, Ptosis OMIM:612946
Basel-Vanagaite-Smirin-Yosef Syndrome
Downslanted palpebral fissures, Epicanthus, Ptosis OMIM:616449
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Machado-Joseph Disease
Spinocerebellar tract degeneration, Ptosis, Abnormal autonomic nervous system physiology, Distal ... OMIM:109150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Highly arched eyebrow, Spina... OMIM:617360
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Downslanted palpebral fissures, Blepharophimosis, Flexion contracture, Ptosis ORPHA:391372
Leigh Syndrome
Optic atrophy, Ptosis OMIM:256000
Noonan Syndrome 9
Downslanted palpebral fissures, Sparse eyebrow, Ptosis OMIM:616559
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Ptosis OMIM:613561
Autosomal Recessive Ataxia, Beauce Type
Chronic axonal neuropathy, Sensory axonal neuropathy, Lower limb muscle weakness, Skeletal muscle... ORPHA:88644
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ptosis, Right ventricular hypertrophy OMIM:614261
Warburg Micro Syndrome 4
Flexion contracture, Decreased motor nerve conduction velocity, Optic atrophy, Decreased muscle m... OMIM:615663
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Limb hypertonia, Downslanted palpebral fissures, Ptosis ORPHA:442835
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Upslanted palpebral fissure, Downslanted palpebral fissures, Epicanthus, Facial hypotonia, Ptosis OMIM:618659
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Leg muscle stiffness, Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Sparse eyebrow, Ptosis ORPHA:66629
Rere-Related Neurodevelopmental Syndrome
Broad eyebrow, Optic atrophy, Epicanthus, Blepharophimosis, Ptosis ORPHA:494344
Wolfram Syndrome 1
Optic atrophy, Neurogenic bladder, Ptosis OMIM:222300
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Arthrogryposis multiplex congenita, Ptosis OMIM:617143
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Downslanted palpebral fissures, Epicanthus, Facial palsy,... ORPHA:1358
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Abnormal eyelid morphology, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:2990
Meckel Syndrome, Type 10
Epicanthus, Narrow palpebral fissure, Ptosis, Camptodactyly OMIM:614175
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Flexion contracture, Weakness of facial musculature, Facial palsy, Achilles tend... OMIM:301041
Intellectual Developmental Disorder, Autosomal Dominant 35
Downslanted palpebral fissures, Facial hypotonia, Ptosis, Congenital muscular torticollis OMIM:616355
Coffin-Siris Syndrome 2
Long eyelashes, Thick eyebrow, Macroglossia, Ptosis OMIM:614607
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Spina bifida occulta, Ptosis OMIM:268850
Wagr Syndrome
Ptosis ORPHA:893
Arthrogryposis, Distal, Type 5D
Camptodactyly, Elbow flexion contracture, Arthrogryposis multiplex congenita, Highly arched eyebr... OMIM:615065
Combined Oxidative Phosphorylation Deficiency 47
Ptosis OMIM:618958
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Hypomimic face, Ptosis ORPHA:70594
Birk-Landau-Perez Syndrome
Upslanted palpebral fissure, Limb hypertonia, Optic atrophy, Long eyelashes, Facial hypotonia, Pt... OMIM:617595
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Acrocraniofacial Dysostosis
Downslanted palpebral fissures, Abnormal auditory evoked potentials, Ptosis OMIM:201050
4Q21 Microdeletion Syndrome
Long eyelashes, Synophrys, Ptosis ORPHA:238750
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Upslanted palpebral fissure, Arthrogryposis-like hand anomaly, Camptodactyly, Epica... ORPHA:369891