Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Ptosis (HP:0000508)help
Term ID: 508
Name: Ptosis
Synonym: Blepharoptosis; Drooping upper eyelid; Eye drop; Eyelid ptosis
Definition: The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Comments:
Reference: HP:0000508
Genes and Diseases:
 
       Child Nodes:
........expandBilateral ptosis (HP:0001488) help
................... HP:0007911 Congenital bilateral ptosis
........expandHorner syndrome (HP:0002277) help
................... HP:0006837 Congenital Horner syndrome
........expandUnilateral ptosis (HP:0007687) help
........expandProgressive ptosis (HP:0007838) help
........expandCongenital ptosis (HP:0007970) help
................... HP:0007911 Congenital bilateral ptosis

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000508HP:0000508Ptosis0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0000508HP:0000508Ptosis0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0000508HP:0000508Ptosis0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0000508HP:0000508Ptosis0ACKR3 CL E G H5700723692OMIM:619215OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare96
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0000508HP:0000508Ptosis0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000508HP:0000508Ptosis0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000508HP:0000508Ptosis0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000508HP:0000508Ptosis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000508HP:0000508Ptosis0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000508HP:0000508Ptosis0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000508HP:0000508Ptosis0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0000508HP:0000508Ptosis0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000508HP:0000508Ptosis0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0000508HP:0000508Ptosis0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040282 - Frequent86
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0000508HP:0000508Ptosis0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0000508HP:0000508Ptosis0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000508HP:0000508Ptosis0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0000508HP:0000508Ptosis0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000508HP:0000508Ptosis0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0000508HP:0000508Ptosis0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000508HP:0000508Ptosis0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000508HP:0000508Ptosis0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0000508HP:0000508Ptosis0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0000508HP:0000508Ptosis0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0000508HP:0000508Ptosis0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0000508HP:0000508Ptosis0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000508HP:0000508Ptosis0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000508HP:0000508Ptosis0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000508HP:0000508Ptosis0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000508HP:0000508Ptosis0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0000508HP:0000508Ptosis0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0000508HP:0000508Ptosis0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000508HP:0000508Ptosis0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000508HP:0000508Ptosis0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000508HP:0000508Ptosis0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000508HP:0000508Ptosis0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000508HP:0000508Ptosis0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000508HP:0000508Ptosis0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000508HP:0000508Ptosis0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000508HP:0000508Ptosis0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0000508HP:0000508Ptosis0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0000508HP:0000508Ptosis0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000508HP:0000508Ptosis0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000508HP:0000508Ptosis0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000508HP:0000508Ptosis0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000508HP:0000508Ptosis0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000508HP:0000508Ptosis0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000508HP:0000508Ptosis0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000508HP:0000508Ptosis0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000508HP:0000508Ptosis0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0000508HP:0000508Ptosis0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000508HP:0000508Ptosis0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000508HP:0000508Ptosis0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000508HP:0000508Ptosis0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000508HP:0000508Ptosis0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000508HP:0000508Ptosis0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0000508HP:0000508Ptosis0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0000508HP:0000508Ptosis0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0000508HP:0000508Ptosis0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0000508HP:0000508Ptosis0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000508HP:0000508Ptosis0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000508HP:0000508Ptosis0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000508HP:0000508Ptosis0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0000508HP:0000508Ptosis0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000508HP:0000508Ptosis0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000508HP:0000508Ptosis0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000508HP:0000508Ptosis0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare56
HP:0000508HP:0000508Ptosis0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000508HP:0000508Ptosis0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000508HP:0000508Ptosis0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000508HP:0000508Ptosis0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000508HP:0000508Ptosis0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000508HP:0000508Ptosis0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000508HP:0000508Ptosis0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIOHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000508HP:0000508Ptosis0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000508HP:0000508Ptosis0CDC42BPB CL E G H95781738OMIM:619841
HP:0000508HP:0000508Ptosis0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000508HP:0000508Ptosis0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0000508HP:0000508Ptosis0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0000508HP:0000508Ptosis0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000508HP:0000508Ptosis0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000508HP:0000508Ptosis0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000508HP:0000508Ptosis0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000508HP:0000508Ptosis0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000508HP:0000508Ptosis0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000508HP:0000508Ptosis0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000508HP:0000508Ptosis0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0000508HP:0000508Ptosis0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0000508HP:0000508Ptosis0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0000508HP:0000508Ptosis0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0000508HP:0000508Ptosis0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare11
HP:0000508HP:0000508Ptosis0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000508HP:0000508Ptosis0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000508HP:0000508Ptosis0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000508HP:0000508Ptosis0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0000508HP:0000508Ptosis0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000508HP:0000508Ptosis0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000508HP:0000508Ptosis0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000508HP:0000508Ptosis0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000508HP:0000508Ptosis0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000508HP:0000508Ptosis0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000508HP:0000508Ptosis0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000508HP:0000508Ptosis0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0000508HP:0000508Ptosis0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H8457018603OMIM:616219Fibrosis of extraocular muscles, congenital, 5.3
HP:0000508HP:0000508Ptosis0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0000508HP:0000508Ptosis0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000508HP:0000508Ptosis0COL9A3 CL E G H12992219OMIM:620022137
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 3.3
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040281 - Very frequent9
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000508HP:0000508Ptosis0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0000508HP:0000508Ptosis0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0000508HP:0000508Ptosis0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0000508HP:0000508Ptosis0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0000508HP:0000508Ptosis0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000508HP:0000508Ptosis0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000508HP:0000508Ptosis0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000508HP:0000508Ptosis0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000508HP:0000508Ptosis0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000508HP:0000508Ptosis0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0000508HP:0000508Ptosis0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000508HP:0000508Ptosis0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0000508HP:0000508Ptosis0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0000508HP:0000508Ptosis0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0000508HP:0000508Ptosis0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000508HP:0000508Ptosis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0000508HP:0000508Ptosis0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000508HP:0000508Ptosis0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0000508HP:0000508Ptosis0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000508HP:0000508Ptosis0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000508HP:0000508Ptosis0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000508HP:0000508Ptosis0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0000508HP:0000508Ptosis0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0000508HP:0000508Ptosis0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0000508HP:0000508Ptosis0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000508HP:0000508Ptosis0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000508HP:0000508Ptosis0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional94
HP:0000508HP:0000508Ptosis0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0000508HP:0000508Ptosis0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0000508HP:0000508Ptosis0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0000508HP:0000508Ptosis0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0000508HP:0000508Ptosis0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0000508HP:0000508Ptosis0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000508HP:0000508Ptosis0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000508HP:0000508Ptosis0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional55
HP:0000508HP:0000508Ptosis0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0000508HP:0000508Ptosis0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000508HP:0000508Ptosis0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000508HP:0000508Ptosis0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional107
HP:0000508HP:0000508Ptosis0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000508HP:0000508Ptosis0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000508HP:0000508Ptosis0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000508HP:0000508Ptosis0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0000508HP:0000508Ptosis0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0000508HP:0000508Ptosis0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000508HP:0000508Ptosis0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0000508HP:0000508Ptosis0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0000508HP:0000508Ptosis0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040283 - Occasional92
HP:0000508HP:0000508Ptosis0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000508HP:0000508Ptosis0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000508HP:0000508Ptosis0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000508HP:0000508Ptosis0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000508HP:0000508Ptosis0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000508HP:0000508Ptosis0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000508HP:0000508Ptosis0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000508HP:0000508Ptosis0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000508HP:0000508Ptosis0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000508HP:0000508Ptosis0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000508HP:0000508Ptosis0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000508HP:0000508Ptosis0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000508HP:0000508Ptosis0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000508HP:0000508Ptosis0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0000508HP:0000508Ptosis0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000508HP:0000508Ptosis0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000508HP:0000508Ptosis0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent1361
HP:0000508HP:0000508Ptosis0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000508HP:0000508Ptosis0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0000508HP:0000508Ptosis0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000508HP:0000508Ptosis0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000508HP:0000508Ptosis0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0000508HP:0000508Ptosis0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040282 - Frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000508HP:0000508Ptosis0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000508HP:0000508Ptosis0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional68
HP:0000508HP:0000508Ptosis0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000508HP:0000508Ptosis0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linkedHP:0040284 - Very rare493
HP:0000508HP:0000508Ptosis0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000508HP:0000508Ptosis0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000508HP:0000508Ptosis0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040282 - Frequent20
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040281 - Very frequent92
HP:0000508HP:0000508Ptosis0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000508HP:0000508Ptosis0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare105
HP:0000508HP:0000508Ptosis0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000508HP:0000508Ptosis0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000508HP:0000508Ptosis0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000508HP:0000508Ptosis0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000508HP:0000508Ptosis0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0000508HP:0000508Ptosis0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitus237
HP:0000508HP:0000508Ptosis0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0000508HP:0000508Ptosis0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000508HP:0000508Ptosis0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000508HP:0000508Ptosis0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000508HP:0000508Ptosis0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000508HP:0000508Ptosis0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000508HP:0000508Ptosis0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14HP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000508HP:0000508Ptosis0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000508HP:0000508Ptosis0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0GPRASP2 CL E G H11492825169OMIM:301018Deafness, X-linked 7.
HP:0000508HP:0000508Ptosis0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000508HP:0000508Ptosis0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000508HP:0000508Ptosis0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000508HP:0000508Ptosis0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000508HP:0000508Ptosis0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000508HP:0000508Ptosis0HEATR3 CL E G H5502726087OMIM:620072
HP:0000508HP:0000508Ptosis0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000508HP:0000508Ptosis0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0000508HP:0000508Ptosis0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000508HP:0000508Ptosis0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000508HP:0000508Ptosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000508HP:0000508Ptosis0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0000508HP:0000508Ptosis0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000508HP:0000508Ptosis0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000508HP:0000508Ptosis0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000508HP:0000508Ptosis0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0000508HP:0000508Ptosis0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000508HP:0000508Ptosis0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0000508HP:0000508Ptosis0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000508HP:0000508Ptosis0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0000508HP:0000508Ptosis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000508HP:0000508Ptosis0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0000508HP:0000508Ptosis0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0000508HP:0000508Ptosis0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000508HP:0000508Ptosis0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000508HP:0000508Ptosis0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitus62
HP:0000508HP:0000508Ptosis0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000508HP:0000508Ptosis0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0000508HP:0000508Ptosis0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0000508HP:0000508Ptosis0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000508HP:0000508Ptosis0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000508HP:0000508Ptosis0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000508HP:0000508Ptosis0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000508HP:0000508Ptosis0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0000508HP:0000508Ptosis0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0000508HP:0000508Ptosis0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare80
HP:0000508HP:0000508Ptosis0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000508HP:0000508Ptosis0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0000508HP:0000508Ptosis0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitus127
HP:0000508HP:0000508Ptosis0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000508HP:0000508Ptosis0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000508HP:0000508Ptosis0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000508HP:0000508Ptosis0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000508HP:0000508Ptosis0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000508HP:0000508Ptosis0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0000508HP:0000508Ptosis0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000508HP:0000508Ptosis0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0000508HP:0000508Ptosis0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0000508HP:0000508Ptosis0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0000508HP:0000508Ptosis0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000508HP:0000508Ptosis0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare13
HP:0000508HP:0000508Ptosis0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0000508HP:0000508Ptosis0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0000508HP:0000508Ptosis0KMT2B CL E G H975715840OMIM:61993411
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2.196
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000508HP:0000508Ptosis0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000508HP:0000508Ptosis0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000508HP:0000508Ptosis0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000508HP:0000508Ptosis0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0000508HP:0000508Ptosis0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0000508HP:0000508Ptosis0LMNA CL E G H40006636OMIM:212112Malouf syndromeHP:0040283 - Occasional645
HP:0000508HP:0000508Ptosis0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0000508HP:0000508Ptosis0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040282 - Frequent8
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000508HP:0000508Ptosis0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17.124
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040282 - Frequent124
HP:0000508HP:0000508Ptosis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000508HP:0000508Ptosis0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000508HP:0000508Ptosis0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome.21
HP:0000508HP:0000508Ptosis0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent178
HP:0000508HP:0000508Ptosis0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000508HP:0000508Ptosis0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000508HP:0000508Ptosis0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000508HP:0000508Ptosis0MARK3 CL E G H41406897OMIM:618283Visual impairment and progressive phthisis bulbi.
HP:0000508HP:0000508Ptosis0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040281 - Very frequent21
HP:0000508HP:0000508Ptosis0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000508HP:0000508Ptosis0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0000508HP:0000508Ptosis0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000508HP:0000508Ptosis0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000508HP:0000508Ptosis0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000508HP:0000508Ptosis0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000508HP:0000508Ptosis0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000508HP:0000508Ptosis0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0000508HP:0000508Ptosis0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0000508HP:0000508Ptosis0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000508HP:0000508Ptosis0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0000508HP:0000508Ptosis0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0000508HP:0000508Ptosis0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000508HP:0000508Ptosis0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0000508HP:0000508Ptosis0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional91
HP:0000508HP:0000508Ptosis0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0000508HP:0000508Ptosis0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000508HP:0000508Ptosis0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000508HP:0000508Ptosis0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000508HP:0000508Ptosis0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000508HP:0000508Ptosis0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0000508HP:0000508Ptosis0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000508HP:0000508Ptosis0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0000508HP:0000508Ptosis0MTSS2 CL E G H9215425094OMIM:620086
HP:0000508HP:0000508Ptosis0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0000508HP:0000508Ptosis0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000508HP:0000508Ptosis0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0000508HP:0000508Ptosis0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0000508HP:0000508Ptosis0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.HP:0003577 - Congenital onset
HP:0000508HP:0000508Ptosis0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0000508HP:0000508Ptosis0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegiaHP:0040283 - Occasional105
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3.166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent166
HP:0000508HP:0000508Ptosis0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000508HP:0000508Ptosis0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0000508HP:0000508Ptosis0MYH8 CL E G H46267578ORPHA:3377Trismus-pseudocamptodactyly syndromeHP:0040283 - Occasional93
HP:0000508HP:0000508Ptosis0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0000508HP:0000508Ptosis0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0000508HP:0000508Ptosis0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000508HP:0000508Ptosis0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000508HP:0000508Ptosis0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0000508HP:0000508Ptosis0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000508HP:0000508Ptosis0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare217
HP:0000508HP:0000508Ptosis0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000508HP:0000508Ptosis0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000508HP:0000508Ptosis0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent48
HP:0000508HP:0000508Ptosis0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0000508HP:0000508Ptosis0NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0000508HP:0000508Ptosis0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0000508HP:0000508Ptosis0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0000508HP:0000508Ptosis0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0000508HP:0000508Ptosis0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0000508HP:0000508Ptosis0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0000508HP:0000508Ptosis0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0000508HP:0000508Ptosis0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0000508HP:0000508Ptosis0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0000508HP:0000508Ptosis0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000508HP:0000508Ptosis0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0000508HP:0000508Ptosis0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0000508HP:0000508Ptosis0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0000508HP:0000508Ptosis0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 16.34
HP:0000508HP:0000508Ptosis0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0000508HP:0000508Ptosis0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0000508HP:0000508Ptosis0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0000508HP:0000508Ptosis0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0000508HP:0000508Ptosis0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000508HP:0000508Ptosis0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare745
HP:0000508HP:0000508Ptosis0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0000508HP:0000508Ptosis0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0000508HP:0000508Ptosis0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000508HP:0000508Ptosis0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent1952
HP:0000508HP:0000508Ptosis0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0000508HP:0000508Ptosis0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000508HP:0000508Ptosis0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000508HP:0000508Ptosis0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000508HP:0000508Ptosis0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000508HP:0000508Ptosis0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000508HP:0000508Ptosis0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000508HP:0000508Ptosis0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040281 - Very frequent144
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000508HP:0000508Ptosis0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000508HP:0000508Ptosis0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0000508HP:0000508Ptosis0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000508HP:0000508Ptosis0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000508HP:0000508Ptosis0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000508HP:0000508Ptosis0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000508HP:0000508Ptosis0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000508HP:0000508Ptosis0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0000508HP:0000508Ptosis0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000508HP:0000508Ptosis0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000508HP:0000508Ptosis0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0000508HP:0000508Ptosis0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000508HP:0000508Ptosis0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0000508HP:0000508Ptosis0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional214
HP:0000508HP:0000508Ptosis0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000508HP:0000508Ptosis0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0000508HP:0000508Ptosis0PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophyHP:0040281 - Very frequent10
HP:0000508HP:0000508Ptosis0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0000508HP:0000508Ptosis0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000508HP:0000508Ptosis0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0000508HP:0000508Ptosis0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000508HP:0000508Ptosis0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040283 - Occasional59
HP:0000508HP:0000508Ptosis0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000508HP:0000508Ptosis0PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040282 - Frequent194
HP:0000508HP:0000508Ptosis0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000508HP:0000508Ptosis0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000508HP:0000508Ptosis0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0000508HP:0000508Ptosis0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitus30
HP:0000508HP:0000508Ptosis0PDZD8 CL E G H11898726974OMIM:620021
HP:0000508HP:0000508Ptosis0PEPD CL E G H51848840OMIM:170100Prolidase deficiency.66
HP:0000508HP:0000508Ptosis0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent169
HP:0000508HP:0000508Ptosis0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent75
HP:0000508HP:0000508Ptosis0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent4
HP:0000508HP:0000508Ptosis0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent65
HP:0000508HP:0000508Ptosis0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent66
HP:0000508HP:0000508Ptosis0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent46
HP:0000508HP:0000508Ptosis0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent59
HP:0000508HP:0000508Ptosis0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent62
HP:0000508HP:0000508Ptosis0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent82
HP:0000508HP:0000508Ptosis0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent106
HP:0000508HP:0000508Ptosis0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent47
HP:0000508HP:0000508Ptosis0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent99
HP:0000508HP:0000508Ptosis0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent98
HP:0000508HP:0000508Ptosis0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0000508HP:0000508Ptosis0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0000508HP:0000508Ptosis0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040282 - Frequent29
HP:0000508HP:0000508Ptosis0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0000508HP:0000508Ptosis0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000508HP:0000508Ptosis0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0000508HP:0000508Ptosis0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0000508HP:0000508Ptosis0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0000508HP:0000508Ptosis0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040281 - Very frequent77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000508HP:0000508Ptosis0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000508HP:0000508Ptosis0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000508HP:0000508Ptosis0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000508HP:0000508Ptosis0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0000508HP:0000508Ptosis0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0000508HP:0000508Ptosis0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040282 - Frequent759
HP:0000508HP:0000508Ptosis0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0000508HP:0000508Ptosis0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000508HP:0000508Ptosis0PLXNA1 CL E G H53619099OMIM:619955
HP:0000508HP:0000508Ptosis0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0000508HP:0000508Ptosis0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent45
HP:0000508HP:0000508Ptosis0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0000508HP:0000508Ptosis0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000508HP:0000508Ptosis0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000508HP:0000508Ptosis0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000508HP:0000508Ptosis0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0000508HP:0000508Ptosis0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0PRDX3 CL E G H109359354OMIM:619862
HP:0000508HP:0000508Ptosis0PREPL CL E G H958130228ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent7
HP:0000508HP:0000508Ptosis0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 22.7
HP:0000508HP:0000508Ptosis0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000508HP:0000508Ptosis0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000508HP:0000508Ptosis0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0000508HP:0000508Ptosis0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000508HP:0000508Ptosis0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000508HP:0000508Ptosis0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0000508HP:0000508Ptosis0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000508HP:0000508Ptosis0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0000508HP:0000508Ptosis0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000508HP:0000508Ptosis0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000508HP:0000508Ptosis0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000508HP:0000508Ptosis0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000508HP:0000508Ptosis0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000508HP:0000508Ptosis0RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0000508HP:0000508Ptosis0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000508HP:0000508Ptosis0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000508HP:0000508Ptosis0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000508HP:0000508Ptosis0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000508HP:0000508Ptosis0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000508HP:0000508Ptosis0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0000508HP:0000508Ptosis0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0000508HP:0000508Ptosis0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0000508HP:0000508Ptosis0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiencyHP:0040283 - Occasional10
HP:0000508HP:0000508Ptosis0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0000508HP:0000508Ptosis0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000508HP:0000508Ptosis0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000508HP:0000508Ptosis0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000508HP:0000508Ptosis0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0000508HP:0000508Ptosis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000508HP:0000508Ptosis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000508HP:0000508Ptosis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0000508