| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Oculomotor-Levator Synkinesis |
|
Eyelid retraction, Ptosis, Abnormal eyelid morphology |
OMIM:151610 |
| Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
| Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
| Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
| Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
| Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
| Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Myasthenic Syndrome, Congenital, 8 |
|
Facial palsy, Ptosis |
OMIM:615120 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis |
OMIM:616304 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Vocal Cord Paralysis And Ptosis |
|
Bilateral ptosis |
OMIM:193240 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Abnormal cranial nerve morphology, Ptosis |
OMIM:258470 |
| Oculopharyngeal Muscular Dystrophy |
|
Progressive ptosis, Facial palsy, Limb muscle weakness, Ptosis |
OMIM:164300 |
| Bifid Nose, Autosomal Dominant |
|
Ptosis |
OMIM:109740 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Myasthenic Syndrome, Congenital, 15 |
|
Ptosis |
OMIM:616227 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Facial palsy, Ptosis |
OMIM:617732 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Calf muscle hypertrophy, Ptosis |
OMIM:618197 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Myopathy, Ptosis |
OMIM:253320 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ptosis, Ragged-red muscle fibers |
OMIM:609283 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
| 2p15-16.1 microdeletion syndrome |
|
Downslanted palpebral fissures, Ptosis, Telecanthus |
DECIPHER:70 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Ptosis |
OMIM:614750 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Ptosis-Vocal Cord Paralysis Syndrome |
|
Ptosis |
ORPHA:2997 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ptosis |
OMIM:616330 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis |
OMIM:192800 |
| Myopathy, Centronuclear, 1 |
|
Ptosis, Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 mu... |
OMIM:160150 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Abnormal lacrimal duct morphology, Epicanthus, Synophrys, Blepharophimosis, Ptosis |
ORPHA:126 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616323 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... |
OMIM:602433 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Levator palpebrae superioris atrophy, Joint contracture of the hand, Camptodactyly of finger, Per... |
OMIM:600638 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Facial palsy, Scapular winging, Ptosis |
OMIM:617069 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Abnormal cranial nerve morphology, Synophrys, Blepharophimo... |
ORPHA:2057 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Limb-girdle muscle atrophy, Limb-girdle muscle weakness, Pelvic girdle muscle weakness, Sensory a... |
ORPHA:329314 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Flexion contracture, Facial palsy, Skeletal muscle atrophy, Myopathy, Ptosis |
OMIM:616313 |
| Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease |
|
Unilateral narrow palpebral fissure, Unilateral ptosis |
OMIM:182875 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Spinal mus... |
OMIM:301830 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... |
OMIM:607684 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Ptosis, Proximal amyotrophy |
OMIM:610542 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... |
OMIM:611067 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Peripheral axonal neuropathy, Ptosis |
OMIM:617070 |
| Fazio-Londe Disease |
|
Facial diplegia, Ptosis |
OMIM:211500 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon, Peripheral axonal neuropathy, Ptosis |
OMIM:619465 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Myo... |
OMIM:300580 |
| Amyotrophy, Hereditary Neuralgic |
|
Axonal degeneration, Upslanted palpebral fissure, Peripheral axonal degeneration, Brachial plexus... |
OMIM:162100 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Paucity of anterior horn motor neurons, Peripheral axonal neuropathy, Abnormal a... |
OMIM:611890 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Unilateral ptosis |
OMIM:300928 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ptosis |
ORPHA:270 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased m... |
OMIM:603034 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Ptosis, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial ... |
OMIM:619566 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616325 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Facial palsy, Limb-girdle muscle weakness, Generalized amyotrophy, Ptosis |
OMIM:615156 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, Horizontal eyebrow, Ptosis |
OMIM:619311 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
| Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Ha... |
OMIM:601462 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenit... |
OMIM:608931 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Distal lower limb ... |
ORPHA:171706 |
| Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:616324 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Leg muscle stiffness, Ptosis |
OMIM:108600 |
| Insulin-Like Growth Factor I Deficiency |
|
Ptosis |
OMIM:608747 |
| Hypertrichosis Cubiti |
|
Thick eyebrow, Abnormal nasolacrimal system morphology, Downslanted palpebral fissures, Abnormal ... |
ORPHA:2220 |
| Trismus-Pseudocamptodactyly Syndrome |
|
Ptosis |
ORPHA:3377 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Congenital ptosis |
OMIM:254190 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Neurogenic bladder, Abnormal upper motor neuron morphology, Peripheral a... |
OMIM:263570 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contracture, Ptosis |
OMIM:606242 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Facial palsy, Knee flexion contracture, Ptosis |
OMIM:617239 |
| Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
| Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... |
OMIM:606070 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Ring Chromosome 1 Syndrome |
|
Downslanted palpebral fissures, Ptosis, Telecanthus |
ORPHA:1437 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:616437 |
| Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:616322 |
| Developmental And Epileptic Encephalopathy 18 |
|
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:615476 |
| Sclerosteosis |
|
Optic atrophy, Facial palsy, Ptosis |
ORPHA:3152 |
| Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... |
ORPHA:254361 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Decreased nerve conduction velocity, Orthostatic hypotension, Degenerat... |
OMIM:118301 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, EMG: myopathic abnormalities, Rimmed va... |
ORPHA:52430 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Optic atrophy, Bilateral ptosis, Downslanted palpebral fissures, Hypomimic face |
OMIM:619701 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Peripheral axonal neuropathy, Optic atrophy, Cent... |
ORPHA:401768 |
| Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, Ptosis |
OMIM:616720 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Telecanthus, Knee flexion contracture, Ptosis |
OMIM:616681 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy, Ptosis |
OMIM:605637 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, Decreased size of nerve terminals, EMG: myopathic abnormalities, Upper limb mus... |
ORPHA:98913 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Arthrogryposis, Distal, Type 7 |
|
Distal arthrogryposis, Arthrogryposis multiplex congenita, Ptosis |
OMIM:158300 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita, Ptosis |
OMIM:608930 |
| Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Bilateral ptosis, Levator palpebrae superioris atrophy, Superior rectus atrophy, Congenital fibro... |
OMIM:135700 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1373 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Ptosis |
OMIM:615917 |
| Arthrogryposis, Distal, Type 2B3 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618436 |
| Cluster Headache, Familial |
|
Ptosis |
OMIM:119915 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... |
OMIM:125250 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Ptosis |
ORPHA:2743 |
| Whistling Face Syndrome, Recessive Form |
|
Short palpebral fissure, Camptodactyly, Telecanthus, Epicanthus, Shoulder flexion contracture, El... |
OMIM:277720 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... |
ORPHA:1145 |
| Coffin-Siris Syndrome 8 |
|
Long eyelashes, Thick eyebrow, Ptosis |
OMIM:618362 |
| Myopathy, Congenital, Bailey-Bloch |
|
Short palpebral fissure, Flexion contracture, Downslanted palpebral fissures, Telecanthus, Skelet... |
OMIM:255995 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Riboflavin Transporter Deficiency |
|
Abnormal autonomic nervous system physiology, Optic disc pallor, Abnormal cranial nerve morpholog... |
ORPHA:97229 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Narrow palpebral fissure, Aganglionic megacolon, Ptosis |
OMIM:613603 |
| Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Proximal amyotrophy, Ptosis, Distal amyotrophy |
OMIM:254300 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Ptosis |
OMIM:610743 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Sensory axonal neuropathy, Optic at... |
ORPHA:254886 |
| Char Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Ptosis |
OMIM:169100 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Thick eyebrow, Frontalis muscle weakness, Synophrys, Blepharophimosis, Ptosis |
OMIM:210745 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Ptosis, Hypomimic face, Abnormal nerve conduction velocity |
OMIM:619862 |
| Ascher Syndrome |
|
Upper eyelid edema, Blepharophimosis, Abnormal eyelid morphology, Ptosis |
ORPHA:1253 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis |
ORPHA:663 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression, Ptosis |
ORPHA:330054 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Flexion contracture, Onion bulb for... |
OMIM:218000 |
| Myasthenic Syndrome, Congenital, 16 |
|
Ptosis |
OMIM:614198 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot... |
ORPHA:275872 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Arthrogryposis multiplex congenita, Ptosis |
OMIM:616326 |
| Legius Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Neurofibromas, Ptosis |
OMIM:611431 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Aplasia of the left hemidiaphragm, Ptosis |
OMIM:618238 |
| Segawa Syndrome, Autosomal Recessive |
|
Ptosis |
OMIM:605407 |
| Wernicke-Korsakoff Syndrome |
|
Ptosis |
OMIM:277730 |
| Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Telecanthus, Blepharophimosis, Ptosis |
OMIM:606772 |
| Oculopharyngodistal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... |
ORPHA:98897 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Thick eyebrow, Sparse eyebrow, Telecanthus, Epicanthus, Ptosis |
OMIM:617268 |
| Progressive Hemifacial Atrophy |
|
Ptosis |
ORPHA:1214 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Thick eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Downslanted palpebral fissur... |
OMIM:615834 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Optic atrophy, Ragged-red muscle fibers, Inc... |
OMIM:252011 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Ptosis |
OMIM:616321 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Ptosis |
ORPHA:1875 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy, Ptosis |
OMIM:605809 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Bilateral ptosis, Skeletal muscle atrophy |
ORPHA:330050 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Limb-girdle muscle weakness, Opt... |
ORPHA:1215 |
| Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Downslanted palpebral fissures, Unilateral narrow palpebral fissure, Ptosis |
ORPHA:3038 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis |
OMIM:110150 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Epicanthus, Facial palsy, Ptosis |
OMIM:614744 |
| Waardenburg Syndrome Type 2 |
|
Telecanthus, Aganglionic megacolon, Ptosis |
ORPHA:895 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Ptosis |
OMIM:618637 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Ptosis |
OMIM:616154 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Downslanted palpebral fissures, Optic disc pallor, Long eyelashes, Ptosis |
OMIM:617523 |
| Purpura Simplex |
|
Ptosis |
OMIM:179000 |
| Proteus Syndrome |
|
Downslanted palpebral fissures, Limbal dermoid, Spinal cord compression, Ptosis |
OMIM:176920 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Leg muscle stiffness, Abnormal eyelid morphology, Ptosis |
ORPHA:251282 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Ptosis |
OMIM:254210 |
| Cardiofaciocutaneous Syndrome 2 |
|
Peripheral axonal neuropathy, Absent eyebrow, Ptosis |
OMIM:615278 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:105550 |
| Proximal Xq28 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Ptosis |
ORPHA:1762 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ptosis, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
| Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Ptosis |
OMIM:120433 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Ptosis |
ORPHA:438178 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial diplegia, Optic atrophy, Skeletal muscle atrophy, Ptosis |
OMIM:613559 |
| Rare Non-Syndromic Intellectual Disability |
|
Ptosis |
ORPHA:101685 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Downslanted palpebral fissures, Optic nerve hypoplasia, Spina bifida occulta, Ptosis |
OMIM:618736 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Camptodactyly of finger, Bilateral ptosis |
OMIM:214980 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy, Ptosis, Congenital finger flexion contractures |
ORPHA:1154 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Epicanthus, Tethered cord, Ptosis |
OMIM:618164 |
| Frias Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Neurogenic bladder, Ptosis |
OMIM:615911 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Facial diplegia, Foot dorsiflexor weakness, Lower limb muscle weakness, Generalized limb muscle a... |
ORPHA:521411 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Rhabdomyolysis, Macroglossia, Ptosis |
OMIM:251900 |
| Fibrosis Of Extraocular Muscles, Congenital, 2 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles |
OMIM:602078 |
| Joubert Syndrome 26 |
|
Ptosis |
OMIM:616784 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Thick eyebrow, Absent lacrimal punctum, Telecanthus, Absent eyelashes, Highly arched eyebrow, Ptosis |
ORPHA:228396 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthrogryposis, Elb... |
OMIM:617468 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Ptosis, Congenital foot contractures, Distal amyotrophy |
ORPHA:3454 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Hypomimic face, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:618049 |
| Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Downslanted palpebral fissures, Long eyelashes, Synophrys, Highly arched eyebrow, ... |
OMIM:300590 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2958 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:258450 |
| Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Motor axonal neuropathy, Cervical spinal cord atrophy, Abnormal upper... |
ORPHA:35689 |
| Frontoocular Syndrome |
|
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis |
OMIM:605321 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Synophrys, Ptosis |
ORPHA:1390 |
| Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Ptosis |
OMIM:165098 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Spasticity of facial muscles |
OMIM:606353 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Downslanted palpebral fissures, Epicanthus, Sparse eyebrow, Ptosis |
OMIM:619989 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Narrow palpebral fissure, Blepharophimosis, Ptosis |
OMIM:301900 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Ptosis |
OMIM:617190 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Epicanthus, Thick eyebrow, Ptosis |
ORPHA:444002 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Optic disc pallor, Long eyelashes, Flexion contracture, Ptosis |
OMIM:619076 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Peripheral axonal neuropathy, Lower limb muscle weakness, Distal amyotrophy, Abnormal mitochondri... |
ORPHA:313772 |
| Prieto Syndrome |
|
Epicanthus, Ptosis |
OMIM:309610 |
| Stickler Syndrome, Type Vi |
|
Downslanted palpebral fissures, Ptosis |
OMIM:620022 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Limb hypertonia, Skeletal muscle atrophy, Ptosis |
OMIM:619527 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:243180 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
| Hypotonia-Cystinuria Syndrome |
|
Epicanthus, Ptosis |
ORPHA:163690 |
| Non-Distal Monosomy 10Q |
|
Ptosis, Epicanthus, Synophrys, Upslanted palpebral fissure |
ORPHA:1581 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Ptosis |
ORPHA:1473 |
| Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of toe, Camptodactyly of finger, Telecanthus, Epicanth... |
OMIM:300244 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis |
OMIM:619972 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Ptosis, Synophrys, Upslanted palpebral fissure |
OMIM:616083 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Ptosis |
ORPHA:2013 |
| Au-Kline Syndrome |
|
Downslanted palpebral fissures, Long palpebral fissure, Sparse lateral eyebrow, Ptosis |
OMIM:616580 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
| Li-Campeau Syndrome |
|
Downslanted palpebral fissures, Thick eyebrow, Telecanthus, Ptosis |
OMIM:619189 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, EMG: myopathic abnormalities, Highly arched eyebrow, Ptosis |
ORPHA:457365 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1825 |
| Myasthenic Syndrome, Congenital, 22 |
|
Ptosis |
OMIM:616224 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Ptosis |
ORPHA:324262 |
| Arthrogryposis, Distal, Type 5 |
|
Ptosis, Congenital finger flexion contractures, Distal arthrogryposis, Epicanthus, Arthrogryposis... |
OMIM:108145 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Flexion contracture, Peripheral axonal neuro... |
ORPHA:137898 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis |
ORPHA:2064 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Lower limb muscle weakness |
ORPHA:2590 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ptosis, Upslanted palpebral fissure, Camptodactyly |
OMIM:613458 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis |
ORPHA:2229 |
| Adult Intestinal Botulism |
|
Ptosis |
ORPHA:178487 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Telecanthus, Blepharophimosis, Ptosis |
ORPHA:397973 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Abnormality of the extraocular musc... |
ORPHA:298 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
| Trisomy 5P |
|
Ptosis |
ORPHA:1742 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... |
ORPHA:171436 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Ptosis |
OMIM:126190 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Facial diplegia, Flexion contracture, Epicanthus, Arthrogryposis multiplex congenita, Limb joint ... |
OMIM:618186 |
| Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Synophrys, Short palpebral fissure, Ptosis |
ORPHA:2471 |
| Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis |
OMIM:115645 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss |
OMIM:221770 |
| Craniosynostosis 3 |
|
Ptosis |
OMIM:615314 |
| Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Telecanthus, White eyebrow, White eyelashes, Synophrys, Meningocele, Spina bifida,... |
ORPHA:894 |
| Chromosome Xq13 Duplication Syndrome |
|
Ptosis, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Almond-shaped palpebral... |
OMIM:301069 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, Downslanted palpebral fissures, Congenital muscular torticollis, Blephar... |
ORPHA:1707 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Ptosis |
OMIM:618226 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Downslanted palpebral fissures, Blepharophimosis, Ptosis, Camptodactyly |
OMIM:617333 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Flexion contracture, Ptosis |
OMIM:617664 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Facial hypotonia, Congenital contracture, Skeletal muscle atrophy, Ptosis |
OMIM:618578 |
| Hartsfield Syndrome |
|
Downslanted palpebral fissures, Ptosis, Telecanthus |
ORPHA:2117 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... |
OMIM:205100 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Ptosis |
ORPHA:1933 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Paucity of anterior horn motor neurons, A... |
OMIM:253310 |
| Meier-Gorlin Syndrome 8 |
|
Ptosis |
OMIM:617564 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Ptosis |
OMIM:619422 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Long palpebral fissure, Highly arched eyebrow, Ptosis |
OMIM:614583 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ptosis |
OMIM:618225 |
| Congenital Ptosis |
|
Congenital facial diplegia, Unilateral narrow palpebral fissure, Congenital fibrosis of extraocul... |
ORPHA:91411 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Peripheral axonal neuropathy, Lower limb muscle weakness, Distal amyotrophy, Opt... |
ORPHA:254930 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Ptosis, Lower limb hypertonia |
OMIM:610246 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Blepharophimosis, Ptosis |
ORPHA:1703 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long palpebral fissure, Ptosis |
OMIM:615668 |
| Spinocerebellar Ataxia Type 28 |
|
Ptosis |
ORPHA:101109 |
| Microphthalmia, Syndromic 13 |
|
Ptosis |
OMIM:300915 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Palpebral edema, Ptosis |
ORPHA:1259 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... |
OMIM:617258 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Downslanted palpebral fissures, Synophrys, Upslanted palpebral fissure, Ptosis |
OMIM:615761 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Ptosis |
OMIM:600118 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ptosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absen... |
ORPHA:98863 |
| Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Conjunctivitis, Ptosis |
ORPHA:91416 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ptosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absen... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ptosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absen... |
ORPHA:98853 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Facial diplegia, Ptosis |
OMIM:612073 |
| Neurofibromatosis-Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:638 |
| Noonan Syndrome 11 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618499 |
| Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Ptosis |
ORPHA:255241 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Epicanthus, Blepharophimosis, Ptosis |
ORPHA:3236 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Downslanted palpebral fissures, Skeletal muscle atrophy, Ptosis |
OMIM:616828 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... |
OMIM:157640 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Facial palsy, Skeletal muscle atrophy, Myopathy, Ptosis |
OMIM:616239 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Peripheral axonal neuropathy, Abnormal lower motor neuron mo... |
ORPHA:276244 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Epicanthus, Spina bifida occulta, Ptosis |
ORPHA:1185 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ptosis |
OMIM:616479 |
| Frontofacionasal Dysplasia |
|
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... |
ORPHA:1791 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thick eyebrow, Flexion contracture, Sparse eyebrow, Sparse eyelashes, Highly arched eyebrow, Epic... |
OMIM:619293 |
| Kosaki Overgrowth Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Optic disc pallor, Multiple joint contractures, Ptosis |
ORPHA:363429 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Ptosis, Knee flexion contracture, Camptodactyly |
OMIM:618198 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Sensory axonal neuropathy, Ragged-red muscle fibers, Limb muscle we... |
OMIM:609286 |
| Mental Retardation, Buenos Aires Type |
|
Downslanted palpebral fissures, Long eyelashes, Curly eyelashes, Ptosis |
OMIM:249630 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Ptosis |
ORPHA:352447 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Ptosis |
ORPHA:1067 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Downslanted palpebral fissures, Facial palsy, Skeletal muscle a... |
ORPHA:3068 |
| Dermoodontodysplasia |
|
Ptosis, Abnormal eyelid morphology |
ORPHA:1660 |
| Myoclonus, Intractable, Neonatal |
|
Ptosis |
OMIM:617235 |
| Cornelia De Lange Syndrome 5 |
|
Telecanthus, Long eyelashes, Synophrys, Highly arched eyebrow, Ptosis |
OMIM:300882 |
| Rhyns Syndrome |
|
Ptosis |
ORPHA:140976 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Ptosis |
OMIM:617062 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy, Long eyelashes, Ptosis |
OMIM:606407 |
| Juberg-Hayward Syndrome |
|
Highly arched eyebrow, Ptosis |
OMIM:216100 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Weakness of facial musculature, Temporal optic disc pallor, Optic atrophy, Scapular winging, Skel... |
ORPHA:98673 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Sparse eyelashes, Optic nerve hypoplasia, Telecanthus, Epicanthus, Ptosis |
OMIM:615280 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Epicanthus inversus, Highly arched eyebrow, Ptosis, Upslanted palpebral fissure |
ORPHA:2988 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Ptosis |
OMIM:617713 |
| Coffin-Siris Syndrome 5 |
|
Long eyelashes, Thick eyebrow, Ptosis |
OMIM:616938 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis |
OMIM:188025 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Ptosis |
OMIM:614924 |
| Myasthenia Gravis |
|
Facial palsy, Limb muscle weakness, Ptosis |
OMIM:254200 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ptosis |
OMIM:312170 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Myopathy, Nemaline bodies, Flexion contracture, Ptosis |
OMIM:616549 |
| Joubert Syndrome 35 |
|
Telecanthus, Highly arched eyebrow, Synophrys, Ptosis |
OMIM:618161 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Thymic Tumor |
|
Neuroendocrine neoplasm, Palpebral edema, Ptosis |
ORPHA:100100 |
| Macrocephaly And Epileptic Encephalopathy |
|
Downslanted palpebral fissures, Ptosis |
OMIM:606369 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis |
OMIM:610539 |
| Ophthalmoplegia, Familial Static |
|
Ptosis |
OMIM:165000 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Synophrys, Blepharophimosis, Highly arched eyebrow, Ptosis |
OMIM:613792 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Ptosis |
OMIM:618155 |
| Diabetes And Deafness, Maternally Inherited |
|
Ptosis |
OMIM:520000 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Joint contracture of the hand, Spina bifida occul... |
OMIM:193700 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Ptosis |
ORPHA:2868 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
| Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Thick eyebrow, Synophrys, Ptosis |
OMIM:619641 |
| Tetrasomy 12P |
|
Telecanthus, Upslanted palpebral fissure, Sparse eyebrow, Ptosis |
ORPHA:884 |
| Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Epicanthus, Ptosis, Upslanted palpebral fissure |
OMIM:613627 |
| Paroxysmal Hemicrania |
|
Palpebral edema, Ptosis, Conjunctival hyperemia |
ORPHA:157835 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Sparse lateral eyebrow, Ptosis |
OMIM:619955 |
| Schuurs-Hoeijmakers Syndrome |
|
Downslanted palpebral fissures, Long eyelashes, Synophrys, Highly arched eyebrow, Ptosis |
OMIM:615009 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short palpebral fissure, Joint contracture of the hand, Optic nerve hypoplasia, Camptodactyly, Do... |
OMIM:612513 |
| Widow'S Peak Syndrome |
|
Ptosis |
OMIM:314570 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Ptosis |
OMIM:614487 |
| Wieacker-Wolff Syndrome |
|
Congenital foot contractures, Upslanted palpebral fissure, Camptodactyly, Distal amyotrophy, Arth... |
OMIM:314580 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Camptodactyly, Epicanthus, Pectoral muscle hypoplasia/aplasia, Ptosis |
OMIM:136760 |
| Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Cranial nerve motor loss, Facial palsy, Hand muscle atrophy, Ptosis |
OMIM:211530 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Ptosis |
ORPHA:44 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Ptosis |
OMIM:615433 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Decreased size of nerve terminals, Right ventricular hypertrophy, Type 2 mu... |
ORPHA:98915 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral ptosis, Epicanthus, Synophrys, Upslanted palpebral fissure |
OMIM:616351 |
| Developmental And Epileptic Encephalopathy 84 |
|
Short palpebral fissure, Epicanthus, Synophrys, Blepharophimosis, Ptosis |
OMIM:618792 |
| Freeman-Sheldon Syndrome |
|
Downslanted palpebral fissures, Camptodactyly of finger, Ptosis |
ORPHA:2053 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Joint contracture of the hand, Skeletal muscle hypertrophy, Quadriceps muscle we... |
OMIM:255800 |
| Perlman Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2849 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ptosis, Axonal loss |
OMIM:618170 |
| Mcdonough Syndrome |
|
Diastasis recti, Synophrys, Upslanted palpebral fissure, Ptosis |
OMIM:248950 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Ptosis |
ORPHA:93262 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Hand muscle weakness, Proximal muscle weakness in lower limbs, Weakness of facial musculature, My... |
ORPHA:99956 |
| Fetal Trimethadione Syndrome |
|
Epicanthus, Synophrys, Ptosis |
ORPHA:1913 |
| Joubert Syndrome 14 |
|
Downslanted palpebral fissures, Epicanthus, Highly arched eyebrow, Ptosis |
OMIM:614424 |
| Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Peripheral axonal neuropathy, Optic atrophy, Epicanthus, Ptosis |
OMIM:615673 |
| Crouzon Syndrome |
|
Optic atrophy, Conjunctivitis, Ptosis |
ORPHA:207 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Downslanted palpebral fissures, Epicanthus, Facial hypotonia, Ptosis |
OMIM:616801 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Telecanthus, Ptosis |
ORPHA:1778 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Ptosis |
OMIM:619071 |
| Hadziselimovic Syndrome |
|
Epicanthus, Ptosis |
OMIM:612946 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Ptosis |
OMIM:616449 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Ptosis |
OMIM:245348 |
| Machado-Joseph Disease |
|
Spinocerebellar tract degeneration, Ptosis, Abnormal autonomic nervous system physiology, Distal ... |
OMIM:109150 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Highly arched eyebrow, Spina... |
OMIM:617360 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Blepharophimosis, Flexion contracture, Ptosis |
ORPHA:391372 |
| Leigh Syndrome |
|
Optic atrophy, Ptosis |
OMIM:256000 |
| Noonan Syndrome 9 |
|
Downslanted palpebral fissures, Sparse eyebrow, Ptosis |
OMIM:616559 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Ptosis |
OMIM:613561 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Chronic axonal neuropathy, Sensory axonal neuropathy, Lower limb muscle weakness, Skeletal muscle... |
ORPHA:88644 |
| Infantile Sialic Acid Storage Disease |
|
Epicanthus, Ptosis |
OMIM:269920 |
| Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Ptosis, Right ventricular hypertrophy |
OMIM:614261 |
| Warburg Micro Syndrome 4 |
|
Flexion contracture, Decreased motor nerve conduction velocity, Optic atrophy, Decreased muscle m... |
OMIM:615663 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Limb hypertonia, Downslanted palpebral fissures, Ptosis |
ORPHA:442835 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Upslanted palpebral fissure, Downslanted palpebral fissures, Epicanthus, Facial hypotonia, Ptosis |
OMIM:618659 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ptosis |
OMIM:614831 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Leg muscle stiffness, Tortuosity of conjunctival vessels, Ptosis |
ORPHA:284289 |
| Keipert Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2662 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Sparse eyebrow, Ptosis |
ORPHA:66629 |
| Rere-Related Neurodevelopmental Syndrome |
|
Broad eyebrow, Optic atrophy, Epicanthus, Blepharophimosis, Ptosis |
ORPHA:494344 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Neurogenic bladder, Ptosis |
OMIM:222300 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Facial palsy, Arthrogryposis multiplex congenita, Ptosis |
OMIM:617143 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Downslanted palpebral fissures, Epicanthus, Facial palsy,... |
ORPHA:1358 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Abnormal eyelid morphology, Aplasia/Hypoplasia of the abdominal wall musculatu... |
ORPHA:2990 |
| Meckel Syndrome, Type 10 |
|
Epicanthus, Narrow palpebral fissure, Ptosis, Camptodactyly |
OMIM:614175 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Flexion contracture, Weakness of facial musculature, Facial palsy, Achilles tend... |
OMIM:301041 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Downslanted palpebral fissures, Facial hypotonia, Ptosis, Congenital muscular torticollis |
OMIM:616355 |
| Coffin-Siris Syndrome 2 |
|
Long eyelashes, Thick eyebrow, Macroglossia, Ptosis |
OMIM:614607 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Downslanted palpebral fissures, Eyelid coloboma, Spina bifida occulta, Ptosis |
OMIM:268850 |
| Wagr Syndrome |
|
Ptosis |
ORPHA:893 |
| Arthrogryposis, Distal, Type 5D |
|
Camptodactyly, Elbow flexion contracture, Arthrogryposis multiplex congenita, Highly arched eyebr... |
OMIM:615065 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Ptosis |
OMIM:618958 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Hypomimic face, Ptosis |
ORPHA:70594 |
| Birk-Landau-Perez Syndrome |
|
Upslanted palpebral fissure, Limb hypertonia, Optic atrophy, Long eyelashes, Facial hypotonia, Pt... |
OMIM:617595 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Ptosis |
OMIM:618098 |
| Acrocraniofacial Dysostosis |
|
Downslanted palpebral fissures, Abnormal auditory evoked potentials, Ptosis |
OMIM:201050 |
| 4Q21 Microdeletion Syndrome |
|
Long eyelashes, Synophrys, Ptosis |
ORPHA:238750 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, Upslanted palpebral fissure, Arthrogryposis-like hand anomaly, Camptodactyly, Epica... |
ORPHA:369891 |
