| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
| Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
| 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 |
| Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
| Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis |
OMIM:620086 |
| Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Vocal Cord Paralysis And Ptosis |
|
Bilateral ptosis |
OMIM:193240 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Ptosis, Abnormal cranial nerve morphology |
OMIM:258470 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Ptosis, Limb muscle weakness, Facial palsy, Progressive ptosis |
OMIM:164300 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance, Ptosis |
OMIM:616304 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Facial palsy, Ptosis |
OMIM:617732 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis |
OMIM:609283 |
| 2p15-16.1 microdeletion syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
DECIPHER:70 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Ptosis |
OMIM:614750 |
| Myasthenic Syndrome, Congenital, 15 |
|
Ptosis |
OMIM:616227 |
| Myasthenic Syndrome, Congenital, 8 |
|
Weakness of facial musculature, Ptosis |
OMIM:615120 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Dec... |
OMIM:605285 |
| Ptosis-Vocal Cord Paralysis Syndrome |
|
Ptosis |
ORPHA:2997 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ptosis |
OMIM:616330 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased d... |
OMIM:607684 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Oculopharyngodistal Myopathy 2 |
|
Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea... |
OMIM:618940 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis |
OMIM:192800 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Pallor of dorsal columns ... |
OMIM:602433 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Limb-girdle muscle weakness, Bilateral ptosis, Optic atrophy, Viral infection-induced rhabdomyoly... |
ORPHA:329314 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ... |
OMIM:617070 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Centrally nucleated skeletal m... |
OMIM:619733 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Ptosis, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Abnormal cranial nerve... |
ORPHA:2057 |
| Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease |
|
Unilateral ptosis, Unilateral narrow palpebral fissure |
OMIM:182875 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Ptosis, Facial palsy, Flexion contracture, Knee flexion contracture, Myo... |
OMIM:616313 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: m... |
OMIM:608423 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... |
OMIM:611067 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ptosis, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Decreased compound muscle act... |
OMIM:301830 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Peripheral axonal neuropathy, Short-segment aganglionic megacolon, Ptosis |
OMIM:619465 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu... |
OMIM:617069 |
| Fazio-Londe Disease |
|
Facial diplegia, Ptosis |
OMIM:211500 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... |
OMIM:300580 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Epicanthus, Axonal degeneration, Upslant... |
OMIM:162100 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... |
OMIM:611890 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ptosis |
ORPHA:270 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Unilateral ptosis, Optic atrophy |
OMIM:300928 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Decreased size of nerve terminals, Myopathy, Type 1 ... |
OMIM:603034 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, Horizontal eyebrow, Ptosis |
OMIM:619311 |
| Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Upper limb... |
OMIM:601462 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Ptosis, Leg muscle stiffness |
OMIM:108600 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ... |
OMIM:608931 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... |
ORPHA:171706 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Calf muscle hypertrophy, Ptosis |
OMIM:618197 |
| Trismus-Pseudocamptodactyly Syndrome |
|
Ptosis |
ORPHA:3377 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Congenital ptosis |
OMIM:254190 |
| Hypertrichosis Cubiti |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2220 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Peripheral axonal neuropathy, Camptodactyly of finger, Facial palsy, Superior rectus atrophy, Lev... |
OMIM:600638 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
| Autism, Susceptibility To, X-Linked 6 |
|
Ptosis |
OMIM:300872 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Ptosis, Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contracture |
OMIM:606242 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Downslanted palpebral fissures, Bilateral ptosis, Optic atrophy, Hypomimic face |
OMIM:619701 |
| Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
| Oculopharyngodistal Myopathy 3 |
|
Ptosis, Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diamet... |
OMIM:619473 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ... |
OMIM:608930 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Ring Chromosome 1 Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1437 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... |
ORPHA:52430 |
| Sclerosteosis |
|
Optic atrophy, Facial palsy, Ptosis |
ORPHA:3152 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension, Ne... |
OMIM:263570 |
| Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... |
OMIM:135700 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
| Arthrogryposis, Distal, Type 7 |
|
Arthrogryposis multiplex congenita, Distal arthrogryposis, Ptosis |
OMIM:158300 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1373 |
| Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:616322 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616325 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Ptosis |
ORPHA:2743 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in muscle fib... |
OMIM:125250 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Whistling Face Syndrome, Recessive Form |
|
Epicanthus, Telecanthus, Shoulder flexion contracture, Elbow flexion contracture, Knee flexion co... |
OMIM:277720 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
| Oculopharyngodistal Myopathy 4 |
|
Ptosis, Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscl... |
OMIM:619790 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Ptosis, Facial palsy, Centrally nucleated skeletal muscle fibers, Increa... |
OMIM:255320 |
| Myasthenic Syndrome, Congenital, 16 |
|
Bilateral ptosis, Ptosis |
OMIM:614198 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Ptosis, Facial palsy, Abnormal autonomic nervous syst... |
ORPHA:97229 |
| Myasthenic Syndrome, Congenital, 10 |
|
Ptosis, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy |
OMIM:254300 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Optic atrophy, Increase... |
ORPHA:401768 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Ptosis, Telecanthus, Knee flexion contracture |
OMIM:616681 |
| Char Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Ptosis |
OMIM:169100 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atrophy, My... |
ORPHA:254886 |
| Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:610743 |
| Cluster Headache, Familial |
|
Ptosis |
OMIM:119915 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Optic atrophy, Bilateral ptosis |
ORPHA:330050 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Ascher Syndrome |
|
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology |
ORPHA:1253 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Generalized amyotrophy, Abnormal upper motor neuron morph... |
ORPHA:275872 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Frontalis muscle weakness, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis |
OMIM:210745 |
| Segawa Syndrome, Autosomal Recessive |
|
Ptosis |
OMIM:605407 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Blepharophimosis, Telecanthus, Ptosis |
OMIM:606772 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm, Optic atrophy, Ptosis |
OMIM:618238 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Arthrogryposis multiplex congenita, Ptosis |
OMIM:616326 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Optic disc pallor, Ptosis |
OMIM:617235 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Ptosis |
OMIM:616321 |
| Coffin-Siris Syndrome 8 |
|
Long eyelashes, Thick eyebrow, Ptosis |
OMIM:618362 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Ptosis, Torticollis, Hypomimic face |
OMIM:619862 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompaction, Inc... |
OMIM:252011 |
| Wernicke-Korsakoff Syndrome |
|
Ptosis |
OMIM:277730 |
| Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
ORPHA:3038 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... |
ORPHA:35689 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis |
OMIM:110150 |
| Progressive Hemifacial Atrophy |
|
Ptosis |
ORPHA:1214 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Ptosis |
OMIM:605809 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Limb-girdle muscle weakness, Bilateral ptosis, Optic atrophy... |
ORPHA:1215 |
| Arthrogryposis, Distal, Type 2B3 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618436 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Arthrogryposis mul... |
OMIM:615834 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Abnormal eyelid morphology, Ptosis, Generalized amyotrophy, Leg muscle stiffness |
ORPHA:251282 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Ptosis |
ORPHA:1875 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Ptosis |
OMIM:618637 |
| Waardenburg Syndrome Type 2 |
|
Telecanthus, Aganglionic megacolon, Ptosis |
ORPHA:895 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Ptosis |
OMIM:616154 |
| Proximal Xq28 Duplication Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:1762 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Ptosis |
OMIM:254210 |
| Cardiofaciocutaneous Syndrome 2 |
|
Absent eyebrow, Peripheral axonal neuropathy, Ptosis |
OMIM:615278 |
| Proteus Syndrome |
|
Limbal dermoid, Spinal cord compression, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
| Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
| Purpura Simplex |
|
Ptosis |
OMIM:179000 |
| Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Weakness of facial musculature, Ptosis |
OMIM:616324 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Lower limb muscle weakness, Distal amyotrophy, Increased intramyocellular lipid droplets, Onion b... |
OMIM:614487 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Ptosis |
ORPHA:438178 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myopathy, Optic atrophy, Sensory axonal neuropathy, Ptosis |
ORPHA:254881 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Neurogenic bladder, Ptosis |
OMIM:615911 |
| Legius Syndrome |
|
Epicanthus, Neurofibroma, Downslanted palpebral fissures, Ptosis |
OMIM:611431 |
| Fibrosis Of Extraocular Muscles, Congenital, 2 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles |
OMIM:602078 |
| Frias Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis |
OMIM:617268 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ptosis, Abnormal autonomic nervous system physiology, Hypomimic face |
OMIM:618049 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy, Congenital finger flexion contractures, Ptosis |
ORPHA:1154 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyotrophy, Ptosis |
OMIM:615084 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Ragged-red muscle fibers, Optic atrophy,... |
OMIM:258450 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet... |
ORPHA:169189 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Ptosis, Skeletal muscle atrophy, Optic atrophy, Limb hypertonia |
OMIM:619527 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Ptosis, Distal amyotrophy, Congenital foot contractures |
ORPHA:3454 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis |
ORPHA:1390 |
| Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Ptosis |
OMIM:165098 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis |
ORPHA:228396 |
| Cornelia De Lange Syndrome 2 |
|
Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, ... |
OMIM:300590 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:619989 |
| Joubert Syndrome 26 |
|
Ptosis |
OMIM:616784 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Weakness of facial musculature, Facial palsy, Ptosis |
OMIM:616323 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2958 |
| Frontoocular Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:605321 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Ptosis |
ORPHA:589905 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis |
OMIM:618736 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Optic disc pallor, Flexion contracture, Long eyelashes, Ptosis |
OMIM:619076 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Blepharophimosis, Narrow palpebral fissure, Ptosis |
OMIM:301900 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis... |
OMIM:617523 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Peripheral axonal neuropathy, Lower limb muscle weakness, Distal amyotrophy, Abnormal mitochondri... |
ORPHA:313772 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Epicanthus, Thick eyebrow, Ptosis |
ORPHA:444002 |
| Li-Campeau Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
OMIM:619189 |
| Terminal Osseous Dysplasia |
|
Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Upslanted palpebra... |
OMIM:300244 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:243180 |
| Prieto Syndrome |
|
Epicanthus, Ptosis |
OMIM:309610 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Bilateral ptosis, Downslanted palpebral fissures, Typ... |
OMIM:619542 |
| Stickler Syndrome, Type Vi |
|
Downslanted palpebral fissures, Ptosis |
OMIM:620022 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness |
ORPHA:2590 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
| Hypotonia-Cystinuria Syndrome |
|
Epicanthus, Ptosis |
ORPHA:163690 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Ptosis |
ORPHA:324262 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Upslanted palpebral fissure, Synophrys, Ptosis |
OMIM:616083 |
| Non-Distal Deletion 10Q |
|
Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys |
ORPHA:1581 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Peripheral axonal neuropathy, Abnormality of the dorsal column of the spinal cord, Flexion contra... |
ORPHA:137898 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Ptosis |
ORPHA:1473 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Facial diplegia, Lower limb muscle weakness, Foot dorsiflexor we... |
ORPHA:521411 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Ptosis |
ORPHA:2013 |
| Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral... |
OMIM:301069 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1825 |
| Adult Intestinal Botulism |
|
Ptosis |
ORPHA:178487 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Increased intramyocellular lipid droplets, Pt... |
OMIM:612016 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Optic atrophy, Facial diplegia, Facial paralysis, Ptosis |
OMIM:613559 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
ORPHA:457365 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis |
ORPHA:663 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Blepharophimosis, Telecanthus, Ptosis |
ORPHA:397973 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis |
ORPHA:2229 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Ptosis |
OMIM:610246 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis |
ORPHA:2064 |
| Trisomy 5P |
|
Ptosis |
ORPHA:1742 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, Muscular dystrophy, Joi... |
OMIM:615351 |
| Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
| Mcdonough Syndrome |
|
Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Short palpebral fissure, Ptosis |
ORPHA:2471 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, D... |
ORPHA:298 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Ptosis |
OMIM:613561 |
| Craniosynostosis 3 |
|
Ptosis |
OMIM:615314 |
| Distal Duplication 15Q |
|
Congenital muscular torticollis, Camptodactyly of finger, Blepharophimosis, Downslanted palpebral... |
ORPHA:1707 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... |
OMIM:205100 |
| Hartsfield Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
| Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Ptosis |
OMIM:618578 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis |
OMIM:619972 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Facial palsy, Lagophthalmos |
OMIM:614744 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination |
OMIM:221770 |
| Congenital Ptosis |
|
Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Congenital facial diplegia, Epicanthu... |
ORPHA:91411 |
| Baraitser-Winter Syndrome 2 |
|
Long palpebral fissure, Telecanthus, Highly arched eyebrow, Ptosis |
OMIM:614583 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Ptosis |
OMIM:619422 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
| Spinocerebellar Ataxia Type 28 |
|
Ptosis |
ORPHA:101109 |
| Mosaic Trisomy 14 |
|
Blepharophimosis, Camptodactyly of finger, Ptosis |
ORPHA:1703 |
| Microphthalmia, Syndromic 13 |
|
Ptosis |
OMIM:300915 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:615761 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Ptosis |
OMIM:600118 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Achilles tendon contracture, T... |
ORPHA:98863 |
| Noonan Syndrome 11 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618499 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Spina bifida, Synophrys, Thic... |
ORPHA:894 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Achilles tendon contracture, T... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Achilles tendon contracture, T... |
ORPHA:98853 |
| Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Pe... |
ORPHA:276244 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Ptosis |
OMIM:620158 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Palpebral edema, Ptosis |
ORPHA:1259 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:3236 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Ptosis, Epicanthus, Limb joint contracture, Flexion co... |
OMIM:618186 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Bilateral ptosis, Ragged-red muscle fibers, Lower limb muscle weakness, ... |
OMIM:616479 |
| Neurofibromatosis-Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:638 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ptosis |
ORPHA:1933 |
| Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Epicanthus, Distal arthrogryposis, Firm muscles, Congenital finger flexion... |
OMIM:108145 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Ptosis |
OMIM:615917 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu... |
OMIM:616239 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contractu... |
OMIM:619293 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Ptosis, Distal arthrogryposis, Camptodactyly, Knee flexion contracture |
OMIM:618198 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Long eyelashes, Facial palsy, Ptosis |
OMIM:606407 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Sensory axonal neur... |
OMIM:609286 |
| Developmental And Epileptic Encephalopathy 18 |
|
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:615476 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Bilateral ptosis, ... |
OMIM:620351 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy, Downslanted palpebral fissures, Ptosis |
OMIM:616828 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:615433 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Spina bifida occulta, Optic atrophy, Ptosis |
ORPHA:1185 |
| Cornelia De Lange Syndrome 5 |
|
Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis |
OMIM:300882 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... |
ORPHA:1791 |
| Ophthalmoplegia, Familial Static |
|
Ptosis |
OMIM:165000 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Optic disc pallor, Multiple joint contractures, Ptosis |
ORPHA:363429 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Downslanted palpebral fi... |
ORPHA:3068 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Ptosis |
OMIM:615280 |
| Dermoodontodysplasia |
|
Ptosis, Abnormal eyelid morphology |
ORPHA:1660 |
| Rhyns Syndrome |
|
Ptosis |
ORPHA:140976 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Ptosis |
ORPHA:1067 |
| Diabetes And Deafness, Maternally Inherited |
|
Ptosis |
OMIM:520000 |
| Juberg-Hayward Syndrome |
|
Highly arched eyebrow, Ptosis |
OMIM:216100 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis |
ORPHA:2988 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Optic atrophy, Myopathy, Temporal optic disc pallor, W... |
ORPHA:98673 |
| Myasthenic Syndrome, Congenital, 22 |
|
Ptosis |
OMIM:616224 |
| Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Foot joint contracture, Synophrys, Thick eyebrow, Ptosis |
OMIM:619641 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis |
OMIM:188025 |
| Coffin-Siris Syndrome 5 |
|
Long eyelashes, Thick eyebrow, Ptosis |
OMIM:616938 |
| Joubert Syndrome 35 |
|
Telecanthus, Synophrys, Highly arched eyebrow, Ptosis |
OMIM:618161 |
| Myasthenia Gravis |
|
Limb muscle weakness, Facial palsy, Ptosis |
OMIM:254200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Ptosis |
OMIM:618226 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy, Ptosis |
OMIM:617143 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis |
OMIM:610539 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Ptosis |
OMIM:616549 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Ptosis |
ORPHA:2868 |
| Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, Macroglossia, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:614608 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Ptosis, Peripheral axonal neuropathy, Sparse lateral eyebrow |
OMIM:619955 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Joint contracture, Optic atrophy, Ptosis |
OMIM:617664 |
| Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis |
OMIM:615009 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Ptosis |
OMIM:613792 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,... |
OMIM:193700 |
| Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculature, Ptosis |
ORPHA:352447 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Ptosis |
ORPHA:44 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Ptosis |
OMIM:618155 |
| Tetrasomy 12P |
|
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis |
ORPHA:884 |
| Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
| Wieacker-Wolff Syndrome |
|
Facial palsy, Congenital foot contractures, Upslanted palpebral fissure, Distal amyotrophy, Campt... |
OMIM:314580 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Ptosis, Facial palsy, Hand muscle weakness, Bilateral ... |
ORPHA:98915 |
| Freeman-Sheldon Syndrome |
|
Downslanted palpebral fissures, Camptodactyly of finger, Ptosis |
ORPHA:2053 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Axonal loss, Ptosis |
OMIM:618170 |
| Myopathy With Extrapyramidal Signs |
|
Epicanthus, Peripheral axonal neuropathy, Optic atrophy, Calf muscle hypertrophy, Ptosis |
OMIM:615673 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Downslanted palpebral fissures, Ptosis, Optic atrophy, Limb hypertonia |
ORPHA:442835 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Joint contracture of the hand, Ptosis |
OMIM:136760 |
| Developmental And Epileptic Encephalopathy 84 |
|
Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:618792 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Skeletal muscle atrophy, Ptosis, Shoulder flexion contracture, Quadriceps muscle... |
OMIM:255800 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Epicanthus, Facial hypotonia, Downslanted palpebral fissures, Ptosis |
OMIM:616801 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ... |
ORPHA:99956 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis |
ORPHA:1778 |
| Perlman Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2849 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Ptosis |
OMIM:619071 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Ptosis |
ORPHA:93262 |
| Crouzon Syndrome |
|
Conjunctivitis, Optic atrophy, Ptosis |
ORPHA:207 |
| Fetal Trimethadione Syndrome |
|
Epicanthus, Synophrys, Ptosis |
ORPHA:1913 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ptosis |
OMIM:618225 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Epicanthus, Telecanthus, Optic nerve hypoplasia, Camptodactyly, Blepharophimosis, Joint contractu... |
OMIM:612513 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Blepharophimosis, Flexion contracture, Downslanted palpebral fissures, Ptosis |
ORPHA:391372 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Limb hypertonia, Hypomimic face |
ORPHA:70594 |
| Hadziselimovic Syndrome |
|
Epicanthus, Ptosis |
OMIM:612946 |
| Infantile Sialic Acid Storage Disease |
|
Epicanthus, Ptosis |
OMIM:269920 |
| Keipert Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2662 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:616559 |
| Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:157835 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Campt... |
OMIM:617360 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Peripheral axonal neuropathy, Ptosis, Centrally nuclea... |
OMIM:607459 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ptosis |
OMIM:614831 |
| Machado-Joseph Disease |
|
Distal amyotrophy, Spinocerebellar tract degeneration, Abnormal autonomic nervous system physiolo... |
OMIM:109150 |
| Birk-Landau-Perez Syndrome |
|
Facial hypotonia, Optic atrophy, Upslanted palpebral fissure, Limb hypertonia, Long eyelashes, Pt... |
OMIM:617595 |
| Leigh Syndrome |
|
Optic atrophy, Ptosis |
OMIM:256000 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Ptosis, Tortuosity of conjunctival vessels, Leg muscle stiffness |
ORPHA:284289 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Blepharophimosis, Ptosis, Downslanted palpebral fissures, Camptodactyly |
OMIM:617333 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Optic atrophy, Blepharophimosis, Broad eyebrow, Ptosis |
ORPHA:494344 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abn... |
ORPHA:2990 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Optic atrophy, Ptosis |
OMIM:222300 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Optic atro... |
OMIM:615663 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Facial hypotonia, Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis |
OMIM:618659 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Chronic axonal neuropathy, Lower limb muscle weakness, Sensory axonal ne... |
ORPHA:88644 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Cranial nerve motor loss, Ptosis |
OMIM:211530 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Upslanted palpebral fissure, Macroglossia, Arthrogryposis-like hand anomaly, Horizont... |
ORPHA:369891 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Facial palsy, Aplasia of the pectoralis major muscle, Myopat... |
ORPHA:1358 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Optic atrophy, Long eyelashes, A... |
OMIM:617301 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Facial palsy, Achilles tendon contracture, Flexion contracture, Weakness of faci... |
OMIM:301041 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Aganglionic megacolon, Ptosis |
ORPHA:66629 |
| Auriculocondylar Syndrome 2A |
|
Ptosis |
OMIM:614669 |
| Houge-Janssens Syndrome 1 |
|
Downslanted palpebral fissures, Congenital muscular torticollis, Facial hypotonia, Ptosis |
OMIM:616355 |
| Coffin-Siris Syndrome 2 |
|
Macroglossia, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:614607 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis |
OMIM:268850 |
| Coach Syndrome 3 |
|
Ptosis |
OMIM:619113 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:619075 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Ptosis |
OMIM:618958 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Ptosis |
OMIM:618098 |
| Wagr Syndrome |
|
Ptosis |
ORPHA:893 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis |
ORPHA:73246 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long palpebral fissure, Macroglossia, Epicanthus, Ptosis |
OMIM:615668 |
| 3Mc Syndrome |
|
Telecanthus, Diastasis recti, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Spina... |
ORPHA:293843 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Neurogenic bladder, Telecanthus, Tethered cord, Dural ectasia, Syringomyel... |
OMIM:130720 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... |
ORPHA:572333 |
| Ohdo Syndrome |
|
Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis |
OMIM:249620 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Ptosis |
OMIM:210700 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Limb-girdle muscle weakness, Rhabdomyolysis, Optic atrophy, Macroglossia, Lower limb muscle weakn... |
OMIM:251900 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Elbow flexion contracture, Knee flexion contracture, Camptodactyly, Arthrogrypos... |
OMIM:108120 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy, Ptosis |
OMIM:616720 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Blepharophimosis, Camptodactyly of toe, Thick eyebrow, Ptosis |
ORPHA:127 |
| Joubert Syndrome 3 |
|
Epicanthus, Highly arched eyebrow, Ptosis |
OMIM:608629 |
| 2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Optic nerve hypoplasia, Camptodactyly of finger, Facial palsy, Sparse ey... |
ORPHA:261349 |
| Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
| 4Q21 Microdeletion Syndrome |
|
Synophrys, Long eyelashes, Ptosis |
ORPHA:238750 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Blepharophimosis, Ptosis |
ORPHA:1745 |
| Fountain Syndrome |
|
Epicanthus, Spina bifida, Synophrys, Spina bifida occulta, Thick eyebrow, Ptosis |
ORPHA:3219 |
| Marcus-Gunn Syndrome |
|
Unilateral ptosis, Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Epicanthus, Camptodactyly of finger, Knee flexion contracture, Distal arth... |
OMIM:114300 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Ptosis |
ORPHA:254509 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Joint contracture of the 5th ... |
OMIM:620098 |
| Joubert Syndrome 30 |
|
Ptosis |
OMIM:617622 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Optic atrophy, Right ventricular hypertrophy |
OMIM:614261 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of t... |
ORPHA:1784 |
| Weiss-Kruszka Syndrome |
|
Epicanthus, Highly arched eyebrow, Left ventricular hypertrophy, Downslanted palpebral fissures, ... |
OMIM:618619 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Spinal cord compression, Ptosis |
ORPHA:2522 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Synophrys, Elbow flexion contractur... |
OMIM:613776 |
| Aarskog-Scott Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis |
ORPHA:915 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ptosis |
OMIM:312170 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Epicanthus, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissu... |
OMIM:617061 |
| Noonan Syndrome 8 |
|
Left ventricular hypertrophy, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:615355 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:611553 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ptosis |
ORPHA:101150 |
| Spinocerebellar Ataxia 47 |
|
Ptosis |
OMIM:617931 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Facial diplegia, Ptosis |
OMIM:612073 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Ptosis |
ORPHA:2617 |
| 9Q21.13 Microdeletion Syndrome |
|
Long palpebral fissure, Syringomyelia, Ptosis |
ORPHA:531151 |
| Muenke Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:602849 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Ptosis |
OMIM:618731 |
| Meckel Syndrome, Type 10 |
|
Ptosis, Epicanthus, Narrow palpebral fissure, Camptodactyly |
OMIM:614175 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Upslanted palpebral fissure, Ptosis, Hypomimic face |
OMIM:617854 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial musc... |
OMIM:265000 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Epicanthus, Facial palsy, Hypoplasia of the musculature, Lagophthalmos, ... |
OMIM:254940 |
| X-Linked Mandibulofacial Dysostosis |
|
Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1131 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Elbow contracture, Multiple pterygia, Elbow flexion contracture, Antecubital pte... |
OMIM:178110 |
| Joubert Syndrome 14 |
|
Epicanthus, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis |
OMIM:614424 |
| Buratti-Harel Syndrome |
|
Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:619314 |
| Robinow-Sorauf Syndrome |
|
Bilateral ptosis, Downslanted palpebral fissures, Shallow orbits |
OMIM:180750 |
| Sunct Syndrome |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:57145 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Ptosis |
OMIM:612291 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Ptosis |
ORPHA:1876 |
| Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, Cam... |
OMIM:616737 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Highly arched eyebrow, Ptosis |
ORPHA:2319 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, R... |
ORPHA:70595 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2496 |
| Isolated Atp Synthase Deficiency |
|
Optic atrophy, Ptosis |
ORPHA:254913 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Fetal Alcohol Syndrome |
|
Telecanthus, Epicanthus, Congenital diaphragmatic hernia, Ptosis |
ORPHA:1915 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Long palpebral fissure, Skeletal muscle atrophy, Ptosis, Knee flexion contracture |
OMIM:603387 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ptosis, Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis |
OMIM:608624 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Ptosis |
OMIM:245348 |
| Baraitser-Winter Syndrome 1 |
|
Long palpebral fissure, Epicanthus, Highly arched eyebrow, Ptosis |
OMIM:243310 |
| Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Limb hypertonia, Long eyelashes, Ptosis |
OMIM:617190 |
| Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Downslanted palpebral fissure... |
OMIM:619087 |
| Aniridia-Absent Patella Syndrome |
|
Ptosis |
ORPHA:1069 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ptosis |
OMIM:615838 |
| Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Highly arched eyebrow, Lagophthalmos, Elbow flexion contracture, Camptodac... |
OMIM:615065 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Ptosis |
OMIM:619424 |
| Oculopharyngodistal Myopathy 1 |
|
Ptosis, Autophagic vacuoles, Facial palsy, Bilateral ptosis, Distal amyotrophy, Increased variabi... |
OMIM:164310 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Ptosis |
ORPHA:2511 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:110100 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Optic atrophy, Lacrimal duct stenosis, Ptosis |
ORPHA:457193 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Optic disc coloboma, Euryblephar... |
ORPHA:2995 |
| Arachnoid Cyst |
|
Facial palsy, Spinal cord compression, Cranial nerve compression, Spinal arachnoid cyst, Abnormal... |
ORPHA:2356 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Ptosis |
OMIM:613077 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Ptosis |
OMIM:616602 |
| Visual Impairment And Progressive Phthisis Bulbi |
|
Ptosis |
OMIM:618283 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Ptosis |
OMIM:314400 |
| Dystonia 34, Myoclonic |
|
Torticollis, Ptosis |
OMIM:619724 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Epicanthus, Congenital contracture, Camptodactyly, Blepharophimosis, Joint... |
OMIM:248700 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Epicanthus, Optic atrophy, Ptosis |
OMIM:220500 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Telecanthus, Fatty replacement of skeletal muscle, Flexion contracture, ... |
OMIM:255995 |
| Developmental And Epileptic Encephalopathy 110 |
|
Ptosis |
OMIM:620149 |
| Rubinstein-Taybi Syndrome |
|
Telecanthus, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpeb... |
ORPHA:783 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Ptosis |
OMIM:247410 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissu... |
OMIM:613026 |
| Noonan Syndrome 4 |
|
Epicanthus, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Ptosis |
OMIM:610733 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Bilateral ptosis, Optic atrophy, Flexion contracture of the 2nd finger, Long eyelashes, Joint con... |
ORPHA:324540 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Flexion contracture, Macroglossia, Downslanted palpebral fissures, Broad... |
ORPHA:261290 |
| Goldberg-Shprintzen Syndrome |
|
Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Limb hypertonia, Downslante... |
OMIM:609460 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Spinal arachnoid cyst, Conjunctivitis, Distichiasis, Ectropion |
ORPHA:33001 |
| Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Bilateral ptosis |
OMIM:611376 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Flexion contracture, Macroglossia, Cervical cord compression, Ptosis |
OMIM:309900 |
| Polyvalvular Heart Disease Syndrome |
|
Ptosis |
ORPHA:228410 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Limb muscle weakness, Facial palsy, Ptosis |
OMIM:610131 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ptosis |
OMIM:609654 |
| Congenital Myasthenic Syndrome |
|
Ptosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mult... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Ptosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mult... |
ORPHA:98914 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:619493 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Ptosis |
OMIM:147800 |
| Orthostatic Hypotension 1 |
|
Weakness of facial musculature, Orthostatic hypotension, Ptosis |
OMIM:223360 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Ptosis |
OMIM:277320 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Synophrys, Ptosis |
ORPHA:3440 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Diastasis recti, Highly arched eyebrow, Synophrys, Blep... |
OMIM:257920 |
| Tukel Syndrome |
|
Congenital fibrosis of extraocular muscles, Ptosis |
OMIM:609428 |
| Jackson-Weiss Syndrome |
|
Ptosis |
ORPHA:1540 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neurogenic bladder, Lower limb amyotrophy, Ptosis |
ORPHA:466722 |
| 3Mc Syndrome 2 |
|
Torticollis, Diastasis recti, Highly arched eyebrow, Hypoplasia of the musculature, Partial abdom... |
OMIM:265050 |
| Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy, Ptosis |
OMIM:609037 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Upslanted palpebral fissure, Epicanthus, Facial hypotonia, Ptosis |
OMIM:300260 |
| 22Q11.2 Duplication Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1727 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Eversion of lateral third of lower eyelids, Abnormality of muscle size, Facial hypotonia, Ptosis |
ORPHA:364028 |
| Monosomy 18P |
|
Epicanthus, Ptosis |
ORPHA:1598 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Ptosis |
OMIM:618451 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Optic atrophy, Distal amyotrophy, Motor... |
OMIM:614298 |
| Xia-Gibbs Syndrome |
|
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis |
OMIM:615829 |
| Joubert Syndrome 7 |
|
Ptosis |
OMIM:611560 |
| Moebius Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Facial palsy, Aplasia of the pectoralis major muscle, Arthro... |
ORPHA:570 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy, Ptosis |
ORPHA:257 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Tethered cord, Highly arched eyebrow, Synophrys, Lower limb hypertonia, Syringomyelia, Downslante... |
OMIM:616728 |
| Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Ptosis |
ORPHA:168549 |
| Intestinal Botulism |
|
Ptosis |
ORPHA:178481 |
| Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Ptosis |
OMIM:614153 |
| Toxin-Mediated Infectious Botulism |
|
Ptosis |
ORPHA:230800 |
| Acrofrontofacionasal Dysostosis 2 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:239710 |
| Lateral Meningocele Syndrome |
|
Epicanthus, Dural ectasia, Syringomyelia, Downslanted palpebral fissures, Ptosis |
ORPHA:2789 |
| Codas Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1458 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis |
ORPHA:314655 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... |
OMIM:229400 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
| Kury-Isidor Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ptosis |
OMIM:619046 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Skeletal muscle steatosis, Ptosis |
ORPHA:436271 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... |
OMIM:105210 |
| Ververi-Brady Syndrome |
|
Upslanted palpebral fissure, Ptosis |
OMIM:617982 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Ptosis |
OMIM:606220 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, P... |
OMIM:146500 |
| Acrofrontofacionasal Dysostosis 1 |
|
Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Ptosis |
OMIM:201180 |
| Refsum Disease, Classic |
|
Limb muscle weakness, Ptosis |
OMIM:266500 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Optic nerve hyp... |
ORPHA:141099 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Ptosis, Contracture of the proximal interphalangeal joint of the 4th finger, Downslanted palpebra... |
OMIM:618109 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Weakness of facial musculature, Optic atrophy, Increased intramyocellular lipid droplets, Ptosis |
OMIM:220110 |
| Acrocraniofacial Dysostosis |
|
Telecanthus, Spina bifida occulta, Downslanted palpebral fissures, Ptosis |
ORPHA:949 |
| Scarf Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Diastasis recti, Ptosis |
ORPHA:3134 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ptosis |
ORPHA:276198 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital bilateral ptosis, Ptosis |
ORPHA:73272 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Ptosis |
OMIM:615145 |
| Fetal Hydantoin Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1912 |
| Char Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:46627 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ptosis |
ORPHA:52503 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Epicanthus, Highly arched eyebrow, Optic disc coloboma, Macroglossia, Ptosis |
OMIM:213300 |
| 3Mc Syndrome 3 |
|
Diastasis recti, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
| Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Flexion contracture, Optic atrophy, Nasolac... |
OMIM:147791 |
| Oculocerebrocutaneous Syndrome |
|
Eyelid coloboma, Congenital diaphragmatic hernia, Ptosis |
ORPHA:1647 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Ptosis |
OMIM:607483 |
| 20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Abnormal shape of the palpebral fissure, Downslanted palpebral fissu... |
ORPHA:363659 |
| Emanuel Syndrome |
|
Multiple joint contractures, Hooded eyelid, Congenital diaphragmatic hernia, Upslanted palpebral ... |
ORPHA:96170 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Ptosis |
ORPHA:2824 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Aganglionic megacolon, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
OMIM:613603 |
| Orofaciodigital Syndrome Xvi |
|
Short palpebral fissure, Ptosis |
OMIM:617563 |
| Joubert Syndrome 37 |
|
Ptosis |
OMIM:619185 |
| Sifrim-Hitz-Weiss Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Ptosis |
OMIM:617159 |
| Ruvalcaba Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:3121 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ptosis, Peripheral axonal neuropathy, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Synophrys, Nasolacrimal duct ob... |
OMIM:610759 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Blepharo... |
OMIM:244450 |
| Pde4D Haploinsufficiency Syndrome |
|
Long palpebral fissure, Narrow palpebral fissure, Ptosis |
ORPHA:439822 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Tethered cord, Optic atrophy, Ptosis |
OMIM:618164 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Ptosis, Hypomimic face |
ORPHA:352649 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ectropion, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, ... |
ORPHA:98907 |
| Cardiofaciocutaneous Syndrome |
|
Epicanthus, Abnormal eyelash morphology, Optic atrophy, Sparse or absent eyelashes, Long palpebra... |
ORPHA:1340 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Long eyelashes, Short palpebral fissure, Highly arched eyebrow, Ptosis |
OMIM:615866 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ptosis, Facial palsy, Abnormality of the autonomic ner... |
ORPHA:79138 |
| Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Ptosis |
OMIM:614688 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Peripheral axonal neuropathy, Epicanthus, Absent eyelashes, Optic nerve dysplasia... |
OMIM:115150 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Ptosis, Finger joint contracture |
OMIM:212112 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital fibrosis of... |
ORPHA:45358 |
| Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:2318 |
| Loeys-Dietz Syndrome 4 |
|
Dural ectasia, Torticollis, Downslanted palpebral fissures, Ptosis |
OMIM:614816 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Generalized amyotrophy |
OMIM:601162 |
| Coach Syndrome 1 |
|
Optic disc pallor, Ptosis |
OMIM:216360 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Arthrogryposis... |
ORPHA:2215 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:220497 |
| Cenani-Lenz Syndrome |
|
Ectropion, Downslanted palpebral fissures, Ptosis |
ORPHA:3258 |
| Cdags Syndrome |
|
Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis |
OMIM:603116 |
| Wound Botulism |
|
Ptosis |
ORPHA:178475 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Camptodactyly of finger, Synophrys, Optic disc coloboma, Downslanted palpebral fissur... |
ORPHA:251014 |
| Isolated Complex I Deficiency |
|
Optic disc pallor, Abnormal mitochondria in muscle tissue, Optic neuropathy, Ptosis |
ORPHA:2609 |
| Gabriele-De Vries Syndrome |
|
Telecanthus, Facial hypotonia, Sparse eyebrow, Epiblepharon, Distal arthrogryposis, Downslanted p... |
OMIM:617557 |
| Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:606851 |
| Muenke Syndrome |
|
Ptosis |
ORPHA:53271 |
| Joubert Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:475 |
| Refsum Disease |
|
Skeletal muscle atrophy, Ptosis |
ORPHA:773 |
| Holoprosencephaly |
|
Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Optic atrophy, Spi... |
ORPHA:2162 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Ptosis |
ORPHA:568051 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Camptodactyly of finger, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
ORPHA:284160 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Quadriceps apl... |
OMIM:161200 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Ptosis |
ORPHA:2031 |
| Holoprosencephaly 4 |
|
Ptosis |
OMIM:142946 |
| Inhalational Botulism |
|
Ptosis |
ORPHA:254504 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Downslanted palpebral fissures, Optic atrophy, Ptosis |
ORPHA:1555 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Macroglossia, Syringomyelia, Abnormal autonomic nervous system physiology, Shallow orbits, Long p... |
ORPHA:453499 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Ptosis |
OMIM:530000 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ptosis |
OMIM:560000 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contracture, Optic atrophy, Upslanted p... |
ORPHA:487796 |
| Insulin-Like Growth Factor I Deficiency |
|
Ptosis |
OMIM:608747 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Ptosis |
ORPHA:1323 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Camptodactyly, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:614230 |
| Glycogen Storage Disease Xii |
|
Epicanthus, Myopathy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Ptosis |
OMIM:611881 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Blepharophimosis, Telecanthus, Short palpebral fissure, Ptosis |
OMIM:217980 |
| Koolen-De Vries Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis |
ORPHA:96169 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Bilateral ptosis, Abnormality of skeletal muscle fiber size, Congenital ... |
ORPHA:168572 |
| Tyshchenko Syndrome |
|
Ptosis |
OMIM:615102 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Bilateral ptosis, Thin eyebrow, Ptosis |
OMIM:618000 |
| Congenital Myopathy 17 |
|
Telecanthus, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Downslanted palpebral fi... |
OMIM:618975 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Ptosis |
OMIM:617713 |
| Miller Fisher Syndrome |
|
Facial palsy, Ptosis |
ORPHA:98919 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:220493 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Epicanthus, Telecanthus, Upslanted palpebral fissure, Contracture of the proximal interphalangeal... |
OMIM:618050 |
| Oculofaciocardiodental Syndrome |
|
Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Highly arched eyebrow, Pt... |
ORPHA:2712 |
| Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Flexion contracture, Elbow flexion contracture, Upslanted palpebral fissure, C... |
OMIM:618947 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ptosis, Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Upslan... |
OMIM:617506 |
| Chromosome 18P Deletion Syndrome |
|
Ptosis, Epicanthus, Hypomimic face |
OMIM:146390 |
| Scarf Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Diastasis recti, Ptosis |
OMIM:312830 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Upslanted palpebral fissure, Ptosis |
OMIM:619758 |
| Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:606232 |
| Branchio-Oculo-Facial Syndrome |
|
Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis |
ORPHA:1297 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:104350 |
| Saethre-Chotzen Syndrome |
|
Blepharospasm, Epicanthus, Optic atrophy, Ptosis |
ORPHA:794 |
| Van Maldergem Syndrome 1 |
|
Epicanthus, Camptodactyly, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:601390 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Myopathy, Sensory axonal neu... |
ORPHA:506 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ptosis |
ORPHA:13 |
| Six2-Related Frontonasal Dysplasia |
|
Epicanthus inversus, Ptosis |
ORPHA:488437 |
| Wiedemann-Steiner Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Short palpebral fissure, Ptosis |
ORPHA:319182 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Ptosis |
ORPHA:2728 |
| Cornelia De Lange Syndrome 1 |
|
Curly eyelashes, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Optic disc co... |
OMIM:122470 |
| Rhyns Syndrome |
|
Ptosis |
OMIM:602152 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Ptosis |
ORPHA:178478 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Optic disc pallor, Optic neuropathy, Ragged-red muscle fibers, Upslanted... |
OMIM:252010 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Peripheral axonal neuropathy, Downslanted palpebral fissures, Ptosis |
OMIM:300661 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Left ventricular hypertrophy, Tendon rupture, Thick eyebrow, Ptosis |
ORPHA:230851 |
| Angelman Syndrome |
|
Optic disc pallor, Optic atrophy, Ptosis |
ORPHA:72 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Upslanted palpebral fissure, Camptod... |
OMIM:309590 |
| Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Macroglossia, Distal arthrogry... |
OMIM:618268 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Blepharophimosis, Telecanthus, Long eyelashes, Ptosis |
OMIM:604314 |
| Van Maldergem Syndrome 2 |
|
Epicanthus, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:615546 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:300895 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Ptosis |
OMIM:300845 |
| Pfeiffer Syndrome |
|
Ptosis |
ORPHA:710 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Ptosis, Septo-optic dysplasia, Hooded eyelid, Aplasia of the right hemidiaphragm, Highly arched e... |
OMIM:619841 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Upslanted palpebral fissure, Torticollis, Telecanthus, Ptosis |
OMIM:620224 |
| Aarskog-Scott Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:305400 |
| Distal Deletion 3P |
|
Blepharophimosis, Epicanthus, Telecanthus, Ptosis |
ORPHA:1620 |
| Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Blepharospasm, Camptodactyly, Blepharophimosis, Spina bifida occulta, Sh... |
ORPHA:233 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Optic atrophy, Camptodactyly, Joint contracture of the hand, Ptosis |
OMIM:251300 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Ptosis, Torticollis, Limb hypertonia |
OMIM:608643 |
| Reni Syndrome |
|
Ptosis |
OMIM:617575 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Hypotrophy of the small hand muscles, Upslanted palpebral fissure, Blepharophimosis, ... |
OMIM:610443 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Distichiasis, Conjunctivitis, Ptosis |
OMIM:153400 |
| Foodborne Botulism |
|
Ptosis |
ORPHA:228371 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Ptosis, Carcinoid tumor, Neuroendocrine neoplasm |
ORPHA:100085 |
| Prolidase Deficiency |
|
Ptosis |
OMIM:170100 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... |
OMIM:154500 |
| Kbg Syndrome |
|
Telecanthus, Synophrys, Long palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Pt... |
OMIM:148050 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Abnormal eyebrow morphology, Shoulder flexion contractu... |
ORPHA:800 |
| Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis |
OMIM:605627 |
| Joubert Syndrome With Hepatic Defect |
|
Optic disc coloboma, Highly arched eyebrow, Ptosis |
ORPHA:1454 |
| Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Downslanted palpebral fissures, Congenital finger flexio... |
OMIM:615582 |
| Au-Kline Syndrome |
|
Lagophthalmos, Syringomyelia, Shallow orbits, Long palpebral fissure, Downslanted palpebral fissu... |
OMIM:616580 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Ptosis |
OMIM:300352 |
| Noonan Syndrome 10 |
|
Epicanthus, Sparse eyebrow, Left ventricular hypertrophy, Downslanted palpebral fissures, Ptosis |
OMIM:616564 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Epicanthus, Ptosis |
OMIM:616723 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Downslanted palpebral fissures, Optic atrophy, Ptosis |
OMIM:123790 |
| Neurofibromatosis-Noonan Syndrome |
|
Epicanthus, Neurofibroma, Plexiform neurofibroma, Lisch nodules, Downslanted palpebral fissures, ... |
OMIM:601321 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Ptosis |
OMIM:614924 |
| Giant Cell Arteritis |
|
Optic atrophy, Ptosis |
ORPHA:397 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Shallow orbits, Joint contracture of the hand, Downslanted palpebral fissures, Campt... |
OMIM:182212 |
| Acromelic Frontonasal Dysplasia |
|
Telecanthus, Ptosis |
ORPHA:1827 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis |
OMIM:129400 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Diastasis recti, Hooded upper eyelid, Ptosis |
OMIM:618548 |
| Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Facial palsy, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fissu... |
OMIM:615873 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ptosis |
OMIM:615453 |
| Acromelic Frontonasal Dysostosis |
|
Telecanthus, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis |
OMIM:603671 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Ptosis, Camptodactyly |
OMIM:613385 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis |
OMIM:167100 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Pectoral muscle hypoplasia... |
ORPHA:306542 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Sparse eyebrow, Downslanted palpebral fissures, Contracture of the proximal interphal... |
ORPHA:464738 |
| Wagro Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
| Frontorhiny |
|
Epicanthus, Camptodactyly of finger, Ptosis |
ORPHA:391474 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Keratoconjunctivitis sicca, Flexion contracture, Thick eyebrow, Ptosis |
OMIM:616007 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Sparse eyebrow, Ptosis, Decreased muscle mass, Synophrys |
OMIM:309583 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... |
ORPHA:2526 |
| Noonan Syndrome 2 |
|
Epicanthus, Sparse eyebrow, Arthrogryposis multiplex congenita, Downslanted palpebral fissures, P... |
OMIM:605275 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Epicanthus inversus, Ptosis |
OMIM:617062 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Facial hypotonia, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissu... |
OMIM:613458 |
| Wolf-Hirschhorn Syndrome |
|
Epicanthus, Tethered cord, Highly arched eyebrow, Congenital diaphragmatic hernia, Optic atrophy,... |
ORPHA:280 |
| Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper limb amyotrophy, ... |
OMIM:616268 |
| Menke-Hennekam Syndrome 1 |
|
Epicanthus, Telecanthus, Thick eyebrow, Tethered cord, Flexion contracture, Upslanted palpebral f... |
OMIM:618332 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, Ptosis |
OMIM:309520 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick ... |
OMIM:213980 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Telecanthus, Elbow contracture, Camptodactyly of finger, ... |
OMIM:208150 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos... |
ORPHA:365 |
| Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Short palpebral fissure, Sparse lateral eyebrow |
OMIM:223370 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... |
ORPHA:17 |
| Myasthenia Gravis |
|
Myositis, Ptosis |
ORPHA:589 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:264200 |
| Acro-Renal-Ocular Syndrome |
|
Epicanthus, Aganglionic megacolon, Optic disc coloboma, Short palpebral fissure, Ptosis |
ORPHA:959 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Ptosis |
ORPHA:3217 |
| Shprintzen-Goldberg Syndrome |
|
Telecanthus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Downs... |
ORPHA:2462 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted palpebral fissu... |
OMIM:616734 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Pseudopapilledema, Ptosis |
OMIM:146255 |
| Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Spina bifida occulta, Sparse lateral eyebrow |
ORPHA:235 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:616078 |
| Neurofaciodigitorenal Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2673 |
| Aniridia 1 |
|
Bilateral ptosis, Optic nerve hypoplasia, Ptosis |
OMIM:106210 |
| Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Aplasia/Hypoplasia of the abdominal wall musculature, Spina bifida occulta, Ptosis |
ORPHA:500 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Epicanthus, Spina bifida, Optic atrophy, Dural ectasia, Upslanted palpebral ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Epicanthus, Spina bifida, Optic atrophy, Dural ectasia, Upslanted palpebral ... |
ORPHA:363958 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Blepharophimosis, Arthrogry... |
ORPHA:2461 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Type 1 muscle fiber atrophy, Macroglossia, Shallow orbits, Long palpebral... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Type 1 muscle fiber atrophy, Macroglossia, Shallow orbits, Long palpebral... |
ORPHA:352665 |
| Alexander Disease |
|
Abnormal autonomic nervous system physiology, Facial palsy, Ptosis |
ORPHA:58 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Epicanthus, Macroglossia, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:369950 |
| Teebi-Shaltout Syndrome |
|
Ptosis, Telecanthus, Highly arched eyebrow, Camptodactyly |
OMIM:272950 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Optic nerve hypoplasia, Optic disc coloboma, Elbow flexion contractu... |
ORPHA:536471 |
| Lathosterolosis |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:46059 |
| Multiple Synostoses Syndrome 1 |
|
Upslanted palpebral fissure, Ptosis |
OMIM:186500 |
| Hunter-Macdonald Syndrome |
|
Upslanted palpebral fissure, Camptodactyly, Blepharophimosis, Joint contracture of the hand, Shor... |
OMIM:611962 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Ptosis |
OMIM:615510 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Ptosis |
OMIM:615895 |
| Jacobsen Syndrome |
|
Epicanthus, Ectropion, Spina bifida, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hyp... |
ORPHA:2308 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Ptosis, Weakness of facial musculature, Knee flexion contracture |
OMIM:617239 |
| Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Camptodactyly of finger, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon,... |
ORPHA:3107 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
| Myhre Syndrome |
|
Skeletal muscle hypertrophy, Blepharophimosis, Short palpebral fissure, Ptosis |
ORPHA:2588 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Aganglionic megacolon, Congenital diaphragmatic hernia, Abnormal eyelash morphology, ... |
ORPHA:818 |
| Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Camptodactyly of finger, Upslanted palpebral fissure, Long eyelashes, Long palpebral ... |
ORPHA:1507 |
| Kabuki Syndrome |
|
Ptosis, Highly arched eyebrow, Congenital diaphragmatic hernia, Long eyelashes, Eversion of later... |
ORPHA:2322 |
| Joubert Syndrome 21 |
|
Ptosis, Optic atrophy, Megalopapilla |
OMIM:615636 |
| Neuroocular Syndrome |
|
Scapular winging, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction,... |
OMIM:619539 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Ragged-red muscle fibers, Ptosis |
OMIM:603041 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:301066 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Ptosis |
ORPHA:1969 |
| Auriculocondylar Syndrome |
|
Ptosis |
ORPHA:137888 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ptosis, Telecanthus, Epicanthus, Highly arched eyebrow, Camptodactyly, Contracture of the proxima... |
OMIM:280000 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Ptosis, Camptodactyly |
ORPHA:228426 |
| Fanconi Anemia |
|
Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpeb... |
ORPHA:84 |
| 22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Optic a... |
ORPHA:567 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Downslanted palpebral fissures, Epicanthus, Long eyelashes, Ptosis |
OMIM:607721 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Ptosis |
OMIM:259100 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:613563 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, Tethered cord, Optic disc coloboma, Short palpebral fissure, Ptosis |
OMIM:617157 |
| Opitz Gbbb Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Ptosis |
ORPHA:2745 |
| 17Q24.2 Microdeletion Syndrome |
|
Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:529962 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Epicanthus, Ptosis |
OMIM:242840 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Epicanthus, Antecubital pterygium, Knee flexion contracture, Popliteal pterygium, Bl... |
OMIM:609945 |
| Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Facial hypotonia, Intrinsic hand muscle atrophy, Ptosis |
OMIM:615273 |
| Non-Functioning Pituitary Adenoma |
|
Ptosis |
ORPHA:91349 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fissure, Ptosis |
OMIM:618820 |
| Faciocardiomelic Syndrome |
|
Telecanthus, Short eyelashes, Ptosis |
OMIM:612731 |
| Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Telecanthus, Facial hypotonia, Lacrimal duct stenosis, Sparse eyebr... |
ORPHA:506358 |
| Ayme-Gripp Syndrome |
|
Upslanted palpebral fissure, Camptodactyly, Downslanted palpebral fissures, Broad eyebrow, Ptosis |
OMIM:601088 |
| Charge Syndrome |
|
Epicanthus, Facial palsy, Highly arched eyebrow, Optic atrophy, Abnormal cranial nerve morphology... |
ORPHA:138 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Highly arched eyebrow, Spina bifida, Flexion contracture, Nasolacrimal... |
OMIM:180849 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Synophrys, Macroglossia, Long eyelashes, Downslanted palpebral fissures, T... |
ORPHA:444077 |
| Abetalipoproteinemia |
|
Myopathy, Keratoconjunctivitis sicca, Distal lower limb muscle weakness, Ptosis |
ORPHA:14 |
| Coffin-Siris Syndrome 4 |
|
Macroglossia, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:614609 |
| Good Syndrome |
|
Ptosis |
ORPHA:169105 |
| Leopard Syndrome 1 |
|
Epicanthus, Scapular winging, Spina bifida occulta, Ptosis |
OMIM:151100 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Joint contracture of the 5th finger, Ptosis |
OMIM:619934 |
| Noonan Syndrome 3 |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:609942 |
| Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... |
ORPHA:2363 |
| Costello Syndrome |
|
Epicanthus, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia, Vestibular schwannoma, D... |
OMIM:218040 |
| Pituitary Apoplexy |
|
Ptosis |
ORPHA:95613 |
| Malignant Atrophic Papulosis |
|
Ptosis |
ORPHA:679 |
| Lathosterolosis |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:607330 |
| Kallmann Syndrome |
|
Ptosis |
ORPHA:478 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Syringomyelia, Shoulder muscle hypoplasia, Spina bifida, Ptosis |
OMIM:274000 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ptosis |
OMIM:620303 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Optic atrophy, Ptosis |
OMIM:614231 |
| Zygomycosis |
|
Ptosis, Chemosis, Abnormal cranial nerve morphology |
ORPHA:73263 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:225400 |
| Prolactinoma |
|
Ptosis |
ORPHA:2965 |
| Arima Syndrome |
|
Optic atrophy, Ptosis |
OMIM:243910 |
| Chime Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Ptosis |
ORPHA:3474 |
| Mesomelia-Synostoses Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:600383 |
| Monosomy 22Q13.3 |
|
Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis |
ORPHA:48652 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Abnormality of the orbital region, Ptosis |
ORPHA:42775 |
| Noonan Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Downslanted palpebral fissures, Ptosis |
ORPHA:648 |
| Erdheim-Chester Disease |
|
Xanthelasma, Ptosis |
ORPHA:35687 |
| Pachydermoperiostosis |
|
Ptosis |
ORPHA:2796 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Highly arched eyebrow, Ptosis |
ORPHA:2282 |
| Cohen-Gibson Syndrome |
|
Epicanthus, Flexion contracture, Camptodactyly, Downslanted palpebral fissures, Ptosis |
OMIM:617561 |
| Specc1L-Related Hypertelorism Syndrome |
|
Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
ORPHA:1519 |
| Coffin-Siris Syndrome |
|
Prominent eyelashes, Thick eyebrow, Ptosis |
ORPHA:1465 |
| Cardiospondylocarpofacial Syndrome |
|
Telecanthus, Epicanthus, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Ptosis |
OMIM:157800 |
| Kabuki Syndrome 1 |
|
Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent eyelashes, Long palpebral fiss... |
OMIM:147920 |
| Codas Syndrome |
|
Ptosis |
OMIM:600373 |
| Aicardi-Goutières Syndrome |
|
Ptosis, Myositis, Multiple joint contractures, Eyelid coloboma |
ORPHA:51 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Synophrys, Long eyelashes, Diaphragmati... |
OMIM:619488 |
| Cornelia De Lange Syndrome |
|
Curly eyelashes, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Long eyelashe... |
ORPHA:199 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Ptosis |
OMIM:124000 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall muscula... |
ORPHA:285 |
| Monosomy 13Q14 |
|
Epicanthus, Ptosis |
ORPHA:1587 |
| Wolf-Hirschhorn Syndrome |
|
Epicanthus, Decreased muscle mass, Tethered cord, Highly arched eyebrow, Ptosis |
OMIM:194190 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Epicanthus, Optic atrophy, Upslanted palpebral fissure, Macroglossia, Lower limb hypertonia, Ptosis |
OMIM:309580 |
| Okamoto Syndrome |
|
Long palpebral fissure, Tethered cord, Syringomyelia, Ptosis |
ORPHA:2729 |
| Microphthalmia, Syndromic 2 |
|
Flexion contracture, Laterally curved eyebrow, Blepharophimosis, Contracture of the proximal inte... |
OMIM:300166 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Long eyelashes, Spina bifida occulta, Downslanted palpebral fiss... |
OMIM:135900 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Aganglionic megacolon, Ptosis |
OMIM:270400 |
| Diamond-Blackfan Anemia |
|
Epicanthus, Abnormality of the thenar eminence, Ptosis |
ORPHA:124 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Ptosis |
ORPHA:2072 |
| Meckel Syndrome, Type 1 |
|
Epicanthus inversus, Camptodactyly of finger, Ptosis |
OMIM:249000 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Trichiasis, Highly arched eyebrow, Nasolacrimal duct obstruction, Syringomyelia, Cervical cord co... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Trichiasis, Highly arched eyebrow, Nasolacrimal duct obstruction, Syringomyelia, Cervical cord co... |
ORPHA:353277 |
| Kawasaki Disease |
|
Conjunctivitis, Ptosis |
ORPHA:2331 |
| Joubert Syndrome 5 |
|
Ptosis |
OMIM:610188 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Generalized muscle hypertrophy, Downslanted palpebral fissures, Broad eyeb... |
OMIM:235730 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Ptosis |
OMIM:161700 |
| Tsh-Secreting Pituitary Adenoma |
|
Ptosis |
ORPHA:91347 |
| Pearson Syndrome |
|
Ptosis |
ORPHA:699 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Aganglionic megacolon, Absent eyelashes, Hydromyelia, Ptosis |
OMIM:308205 |
| Branchiooculofacial Syndrome |
|
Telecanthus, Facial palsy, Elbow flexion contracture, Nasolacrimal duct obstruction, Upslanted pa... |
OMIM:113620 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Epicanthus, Synophrys, Flexion contracture, Knee flexio... |
OMIM:259050 |
| Noonan Syndrome 1 |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:163950 |
| Proteus Syndrome |
|
Decreased muscle mass, Retinal hamartoma, Myofibrillar myopathy, Downslanted palpebral fissures, ... |
ORPHA:744 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Epicanthus, Neck pterygia, Ptosis |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Epicanthus, Neck pterygia, Ptosis |
ORPHA:99228 |
| Monosomy X |
|
Epicanthus, Neck pterygia, Ptosis |
ORPHA:99226 |
| Turner Syndrome |
|
Epicanthus, Neck pterygia, Ptosis |
ORPHA:881 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ptosis |
OMIM:618748 |
| Saethre-Chotzen Syndrome |
|
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits |
OMIM:101400 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Ptosis, Scapular winging, Thick eyebrow, Right ventricular hypertrophy |
OMIM:150230 |
| Autosomal Dominant Cutis Laxa |
|
Ptosis |
ORPHA:90348 |
| Peters-Plus Syndrome |
|
Upslanted palpebral fissure, Narrow palpebral fissure, Diastasis recti, Ptosis |
OMIM:261540 |
| Charge Syndrome |
|
Downslanted palpebral fissures, Facial palsy, Ptosis |
OMIM:214800 |
| Viss Syndrome |
|
Ectropion, Macroglossia, Right ventricular hypertrophy, Long palpebral fissure, Contracture of th... |
OMIM:619472 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Telecanthus, Epicanthus, Aganglionic megacolon, Highly arched eyebrow, Flexion contracture, Optic... |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Telecanthus, Epicanthus, Sparse eyelashes, Tethered cord, Congenital diaphragmatic hernia, Sparse... |
OMIM:601803 |
| Pallister-Hall Syndrome |
|
Distal arthrogryposis, Downslanted palpebral fissures, Ptosis |
ORPHA:672 |
| Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Aplasia/Hypoplas... |
ORPHA:286 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Aganglionic megacolon, Flexion contracture, Camptodactyly, Broad eyebrow, Ptosis |
ORPHA:261537 |
| Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Tendon rupture, Ptosis |
OMIM:182250 |
| Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Optic disc coloboma, Camptodactyly, Joint contracture of the hand, Ptosis |
OMIM:309800 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Ptosis |
OMIM:164210 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Arthrogryposis mult... |
ORPHA:994 |
