Ptosis

Symptom Information:

Symptom ID: HPO:0000508
Synonyms:
Blepharoptosis [HPO:0000508]
EYELID PTOSIS [HPO:0000508]
Ptosis of eyelid (disorder) [Orphanet:7100]
Ptosis [Orphanet:7100]
Blepharoptosis [Orphanet:7100]
Blepharoptosis [OMIM:Blepharoptosis]
Eyelid ptosis [OMIM:Eyelid ptosis]
Ptosis [OMIM:Ptosis]
Eyelid ptosis [Orphanet:7100]
Eyelid ptosis [MedDRA:10015995]
Blepharoptosis [MedDRA:10015995]
Mechanical ptosis [MedDRA:10015995]
Myogenic ptosis [MedDRA:10015995]
Paralytic ptosis [MedDRA:10015995]
Ptosis [MedDRA:10015995]
Ptosis of eyelid [MedDRA:10015995]
Ptosis of eyelid, unspecified [MedDRA:10015995]
Blepharoptosis (in some patients) [OMIM:Blepharoptosis (in some patients)]
Ptosis (50%) [OMIM:Ptosis (50%)]
Ptosis (HCS) [OMIM:Ptosis (HCS)]
Ptosis (about half of patients) [OMIM:Ptosis (about half of patients)]
Ptosis (in some patients) [OMIM:Ptosis (in some patients)]
Ptosis (less common) [OMIM:Ptosis (less common)]
Ptosis (rare) [OMIM:Ptosis (rare)]
Ptosis (with longer disease duration) [OMIM:Ptosis (with longer disease duration)]
Quality:
Cross references:
HPO:0001488 "Bilateral ptosis" [Orphanet:7100]
HPO:0006136 "Bilateral postaxial polydactyly" [Orphanet:7100]
Orphanet:7100 "Ptosis" [Orphanet:7100]
OMIM: "Blepharoptosis" [OMIM:Blepharoptosis]
OMIM: "Eyelid ptosis" [OMIM:Eyelid ptosis]
OMIM: "Ptosis" [OMIM:Ptosis]
OMIM: "Blepharoptosis (in some patients)" [OMIM:Blepharoptosis (in some patients)]
OMIM: "Ptosis (50%)" [OMIM:Ptosis (50%)]
OMIM: "Ptosis (HCS)" [OMIM:Ptosis (HCS)]
OMIM: "Ptosis (about half of patients)" [OMIM:Ptosis (about half of patients)]
OMIM: "Ptosis (in some patients)" [OMIM:Ptosis (in some patients)]
OMIM: "Ptosis (less common)" [OMIM:Ptosis (less common)]
OMIM: "Ptosis (rare)" [OMIM:Ptosis (rare)]
OMIM: "Ptosis (with longer disease duration)" [OMIM:Ptosis (with longer disease duration)]
UMLS:C0005745 "Ptosis" [HPO:0000508]
UMLS:C0033377 "Ptosis" [Orphanet:7100]
UMLS:C0005745 "Blepharoptosis" [Orphanet:7100]
Is a (Direct Parents):
HPO         Abnormal eye physiology
MedDRA Ocular signs and symptoms NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Ptosis(HPO:0000508)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders of the eye(MedDRA:10029301)
       Ocular signs and symptoms NEC(MedDRA:10030952)
          Ptosis(HPO:0000508)
Database Frequency: 459 / 7739
Resource:

All diseases associated with this symptom:

16p13.3 microduplication syndrome (Orphanet:96078)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2p21 microdeletion syndrome (Orphanet:163693)
2q31.1 microdeletion syndrome (Orphanet:251014)
3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
3MC SYNDROME 3 (OMIM:248340)
3q13 microdeletion syndrome (Orphanet:1621)
4q21 microdeletion syndrome (Orphanet:238750)
8q21.11 microdeletion syndrome (Orphanet:284160)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
ARIMA SYNDROME (OMIM:243910)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Aarskog-Scott syndrome (Orphanet:915)
Aase-Smith syndrome (Orphanet:916)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocraniofacial dysostosis (Orphanet:949)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adult intestinal botulism (Orphanet:178487)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Aicardi-Goutières syndrome (Orphanet:51)
Alexander disease (Orphanet:58)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aniridia (Orphanet:77)
Aniridia - absent patella (Orphanet:1069)
Aniridia - ptosis - intellectual deficit - familial obesity (Orphanet:1067)
Aromatic L-amino acid decarboxylase deficiency (Orphanet:35708)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Ascher syndrome (Orphanet:1253)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant centronuclear myopathy (Orphanet:169189)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal dominant optic atrophy and congenital deafness (Orphanet:3212)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic ataxia 1 (Orphanet:251282)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BIFID NOSE, AUTOSOMAL DOMINANT (OMIM:109740)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome 7 (OMIM:615984)
Beckwith-Wiedemann syndrome due to NSD1 mutation (Orphanet:238613)
Bifid nose (Orphanet:2695)
Biotin-responsive basal ganglia disease (Orphanet:65284)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Blepharoptosis - cleft palate - ectrodactyly - dental anomalies (Orphanet:1258)
Blepharoptosis - myopia - ectopia lentis (Orphanet:1259)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Branchio-oculo-facial syndrome (Orphanet:1297)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (OMIM:118301)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CLUSTER HEADACHE, FAMILIAL (OMIM:119915)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - aberrant oral frenula - growth delay (Orphanet:1373)
Cenani-Lenz syndrome (Orphanet:3258)
Centronuclear myopathy (Orphanet:595)
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (Orphanet:1171)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-reno-digital syndrome (Orphanet:1396)
Char syndrome (Orphanet:46627)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleft palate - large ears - small head (Orphanet:2013)
Coffin-Siris syndrome (Orphanet:1465)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Conductive deafness - ptosis - skeletal anomalies (Orphanet:3236)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital myasthenic syndromes with glycosylation defect (Orphanet:353327)
Corneal-cerebellar syndrome (Orphanet:3177)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Costello syndrome (Orphanet:3071)
Cranio-osteoarthropathy (Orphanet:1525)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cutis laxa (Orphanet:209)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
DEND syndrome (Orphanet:79134)
Dahlberg-Borer-Newcomer syndrome (Orphanet:1563)
Deafness - small bowel diverticulosis - neuropathy (Orphanet:3217)
Deafness - onychodystrophy (Orphanet:3231)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Dermo-odonto dysplasia (Orphanet:1660)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
Distal monosomy 3p (Orphanet:1620)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 6p (Orphanet:1745)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dopamine beta-hydroxylase deficiency (Orphanet:230)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Early infantile epileptic encephalopathy without suppression burst (Orphanet:369894)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Ehlers-Danlos syndrome, hypermobility type (Orphanet:285)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Erdheim-Chester disease (Orphanet:35687)
Eyebrow duplication - syndactyly (Orphanet:3172)
FACES syndrome (Orphanet:1969)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
FAZIO-LONDE DISEASE (OMIM:211500)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT (OMIM:600638)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE (OMIM:609612)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
FRONTOOCULAR SYNDROME (OMIM:605321)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Fanconi anemia (Orphanet:84)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal alcohol syndrome (Orphanet:1915)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal trimethadione syndrome (Orphanet:1913)
Foodborne botulism (Orphanet:228371)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Friedreich ataxia 1 (OMIM:229300)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia (Orphanet:250)
Galloway-Mowat syndrome (Orphanet:2065)
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type (Orphanet:79399)
Giant cell arteritis (Orphanet:397)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Good syndrome (Orphanet:169105)
Gordon syndrome (Orphanet:376)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HOLOPROSENCEPHALY 4 (OMIM:142946)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia (Orphanet:79091)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism, Teebi type (Orphanet:1519)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypoparathyroidism - deafness - renal disease (Orphanet:2237)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Iatrogenic botulism (Orphanet:254509)
Infant botulism (Orphanet:178478)
Inhalational botulism (Orphanet:254504)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intestinal botulism (Orphanet:178481)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated plagiocephaly (Orphanet:35098)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
Jackson-Weiss syndrome (Orphanet:1540)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 28 (OMIM:617121)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome 7 (OMIM:611560)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Juberg-Hayward syndrome (Orphanet:2319)
Juberg-Marsidi syndrome (Orphanet:93972)
KABUKI SYNDROME 1 (OMIM:147920)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome (Orphanet:478)
Kawasaki disease (Orphanet:2331)
Kearns-Sayre syndrome (Orphanet:480)
Keipert syndrome (Orphanet:2662)
Kniest dysplasia (Orphanet:485)
Koolen-De Vries syndrome (Orphanet:96169)
Kozlowski-Brown-Hardwick syndrome (Orphanet:2352)
LEOPARD SYNDROME 1 (OMIM:151100)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Legius syndrome (Orphanet:137605)
Leigh syndrome (Orphanet:506)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lymphedema - distichiasis (Orphanet:33001)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MELAS (Orphanet:550)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES (OMIM:606772)
MERRF (Orphanet:551)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MYASTHENIA GRAVIS (OMIM:254200)
MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616326)
MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL (OMIM:616322)
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616323)
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616325)
MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED (OMIM:300580)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Macrostomia - preauricular tags - external ophthalmoplegia (Orphanet:83619)
Malignant atrophic papulosis (Orphanet:679)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marden-Walker syndrome (Orphanet:2461)
Maternally-inherited diabetes and deafness (Orphanet:225)
McDonough syndrome (Orphanet:2471)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Mesomelia-synostoses syndrome (Orphanet:2496)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298)
Moebius syndrome (Orphanet:570)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 22q13 (Orphanet:48652)
Mosaic trisomy 14 (Orphanet:1703)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Mucopolysaccharidosis type 2 (Orphanet:580)
Muenke syndrome (Orphanet:53271)
Multiple system atrophy (Orphanet:102)
Myasthenia gravis (Orphanet:589)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 8 (OMIM:615355)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Native American myopathy (Orphanet:168572)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neuralgic amyotrophy (Orphanet:2901)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Neutral lipid storage disease (Orphanet:165)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Non-distal monosomy 10q (Orphanet:1581)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS (OMIM:258400)
OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA (OMIM:311000)
OPHTHALMOPLEGIA, FAMILIAL STATIC (OMIM:165000)
OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION (OMIM:165098)
OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA (OMIM:258470)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculogastrointestinal muscular dystrophy (Orphanet:1876)
Oculopharyngeal muscular dystrophy (Orphanet:270)
Oculopharyngodistal myopathy (Orphanet:98897)
Ophthalmoplegia - intellectual deficit - lingua scrotalis (Orphanet:2743)
Ophthalmoplegia - myalgia - tubular aggregates (Orphanet:2742)
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
PTOSIS, HEREDITARY CONGENITAL 2 (OMIM:300245)
PURPURA SIMPLEX (OMIM:179000)
Pachydermoperiostosis (Orphanet:2796)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Paris-Trousseau thrombocytopenia (Orphanet:851)
Perlman syndrome (Orphanet:2849)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Perrault Syndrome (Orphanet:2855)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome (Orphanet:710)
Polyglucosan body myopathy type 1 (ORPHA:397937)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Polyvalvular heart disease syndrome (Orphanet:228410)
Pontine tegmental cap dysplasia (Orphanet:269229)
Posterior fusion of lumbosacral vertebrae - blepharoptosis (Orphanet:2064)
Postsynaptic congenital myasthenic syndromes (Orphanet:98913)
Presynaptic congenital myasthenic syndromes (Orphanet:98914)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Progressive hemifacial atrophy (Orphanet:1214)
Prolidase deficiency (Orphanet:742)
Proteus syndrome (Orphanet:744)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pseudoprogeria syndrome (Orphanet:2985)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Ptosis - strabismus - ectopic pupils (Orphanet:2999)
Ptosis - upper ocular movement limitation - absence of lacrimal punctum (Orphanet:228396)
Ptosis - vocal cord paralysis (Orphanet:2997)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E2 deficiency (Orphanet:79244)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RAPP-HODGKIN SYNDROME (OMIM:129400)
RHYNS syndrome (Orphanet:140976)
RIENHOFF SYNDROME (OMIM:615582)
Refsum disease (Orphanet:773)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Riboflavin transporter deficiency (Orphanet:97229)
Ring chromosome 1 (Orphanet:1437)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SCARF syndrome (Orphanet:3134)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
Saethre-Chotzen syndrome (Orphanet:794)
Schwartz-Jampel syndrome (Orphanet:800)
Sclerosteosis (Orphanet:3152)
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis (Orphanet:70595)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Short stature - valvular heart disease - characteristic facies (Orphanet:2868)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 28 (Orphanet:101109)
Spinocerebellar ataxia type 3 (Orphanet:98757)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
Steinert myotonic dystrophy (Orphanet:273)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
THAI SYMPHALANGISM SYNDROME (OMIM:608028)
TUKEL SYNDROME (OMIM:609428)
Teebi-Shaltout syndrome (Orphanet:3291)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Terminal osseous dysplasia - pigmentary defects (Orphanet:88630)
Tetrasomy 12p (Orphanet:884)
Thiamine-responsive encephalopathy (Orphanet:199348)
Thrombocytopenia - absent radius (Orphanet:3320)
Thymic epithelial neoplasm (Orphanet:3398)
Thymic tumor (Orphanet:100100)
Thymoma (Orphanet:99867)
Toxin-mediated infectious botulism (Orphanet:230800)
Treacher-Collins syndrome (Orphanet:861)
Trichodermal syndrome - intellectual deficit (Orphanet:3360)
Trigonocephaly - broad thumbs (Orphanet:3365)
Trismus - pseudocamptodactyly (Orphanet:3377)
Trisomy 17p (Orphanet:261290)
Trisomy 5p (Orphanet:1742)
Trisomy Xq28 (Orphanet:1762)
Turner syndrome (Orphanet:881)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
WAGR syndrome (Orphanet:893)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
WERNICKE-KORSAKOFF SYNDROME (OMIM:277730)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
WIDOW'S PEAK SYNDROME (OMIM:314570)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg syndrome type 2 (Orphanet:895)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Wound botulism (Orphanet:178475)
X-linked centronuclear myopathy (Orphanet:596)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked mandibulofacial dysostosis (Orphanet:1131)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)