Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal lip morphology (HP:0000159)help
Parent Node:
expand
Abnormality of upper lip vermillion (HP:0011339)help
Parent Node:
expand
Thin vermilion border (HP:0000233)help
..Starting node
..expand
Thin upper lip vermilion (HP:0000219)help
Term ID: 219
Name: Thin upper lip vermilion
Synonym: Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin red part of the upper lip; Thin upper lip; Thin upper lips; Thin vermilion border of upper lip
Definition: Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Comments:
Reference: HP:0000219
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandThin lower lip vermilion (HP:0010282) 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:0000219HP:0000219Thin upper lip vermilion0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000219HP:0000219Thin upper lip vermilion0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000219HP:0000219Thin upper lip vermilion0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000219HP:0000219Thin upper lip vermilion0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2.123
HP:0000219HP:0000219Thin upper lip vermilion0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000219HP:0000219Thin upper lip vermilion0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0000219HP:0000219Thin upper lip vermilion0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000219HP:0000219Thin upper lip vermilion0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000219HP:0000219Thin upper lip vermilion0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0000219HP:0000219Thin upper lip vermilion0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0000219HP:0000219Thin upper lip vermilion0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000219HP:0000219Thin upper lip vermilion0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000219HP:0000219Thin upper lip vermilion0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0000219HP:0000219Thin upper lip vermilion0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000219HP:0000219Thin upper lip vermilion0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000219HP:0000219Thin upper lip vermilion0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000219HP:0000219Thin upper lip vermilion0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000219HP:0000219Thin upper lip vermilion0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000219HP:0000219Thin upper lip vermilion0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0000219HP:0000219Thin upper lip vermilion0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000219HP:0000219Thin upper lip vermilion0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000219HP:0000219Thin upper lip vermilion0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000219HP:0000219Thin upper lip vermilion0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000219HP:0000219Thin upper lip vermilion0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000219HP:0000219Thin upper lip vermilion0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000219HP:0000219Thin upper lip vermilion0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000219HP:0000219Thin upper lip vermilion0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000219HP:0000219Thin upper lip vermilion0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000219HP:0000219Thin upper lip vermilion0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000219HP:0000219Thin upper lip vermilion0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0000219HP:0000219Thin upper lip vermilion0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0000219HP:0000219Thin upper lip vermilion0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000219HP:0000219Thin upper lip vermilion0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000219HP:0000219Thin upper lip vermilion0ATIC CL E G H471794ORPHA:250977AICA-ribosiduriaHP:0040281 - Very frequent4
HP:0000219HP:0000219Thin upper lip vermilion0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency4
HP:0000219HP:0000219Thin upper lip vermilion0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000219HP:0000219Thin upper lip vermilion0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0000219HP:0000219Thin upper lip vermilion0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000219HP:0000219Thin upper lip vermilion0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000219HP:0000219Thin upper lip vermilion0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000219HP:0000219Thin upper lip vermilion0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000219HP:0000219Thin upper lip vermilion0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000219HP:0000219Thin upper lip vermilion0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000219HP:0000219Thin upper lip vermilion0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0000219HP:0000219Thin upper lip vermilion0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000219HP:0000219Thin upper lip vermilion0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000219HP:0000219Thin upper lip vermilion0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000219HP:0000219Thin upper lip vermilion0CACNA1C CL E G H7751390OMIM:620029572
HP:0000219HP:0000219Thin upper lip vermilion0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0000219HP:0000219Thin upper lip vermilion0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040282 - Frequent7
HP:0000219HP:0000219Thin upper lip vermilion0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0000219HP:0000219Thin upper lip vermilion0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000219HP:0000219Thin upper lip vermilion0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000219HP:0000219Thin upper lip vermilion0CDC42BPB CL E G H95781738OMIM:619841
HP:0000219HP:0000219Thin upper lip vermilion0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000219HP:0000219Thin upper lip vermilion0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000219HP:0000219Thin upper lip vermilion0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000219HP:0000219Thin upper lip vermilion0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000219HP:0000219Thin upper lip vermilion0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000219HP:0000219Thin upper lip vermilion0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0000219HP:0000219Thin upper lip vermilion0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0000219HP:0000219Thin upper lip vermilion0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0000219HP:0000219Thin upper lip vermilion0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0000219HP:0000219Thin upper lip vermilion0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0000219HP:0000219Thin upper lip vermilion0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0000219HP:0000219Thin upper lip vermilion0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000219HP:0000219Thin upper lip vermilion0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000219HP:0000219Thin upper lip vermilion0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000219HP:0000219Thin upper lip vermilion0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000219HP:0000219Thin upper lip vermilion0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0000219HP:0000219Thin upper lip vermilion0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000219HP:0000219Thin upper lip vermilion0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000219HP:0000219Thin upper lip vermilion0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000219HP:0000219Thin upper lip vermilion0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000219HP:0000219Thin upper lip vermilion0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0000219HP:0000219Thin upper lip vermilion0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0000219HP:0000219Thin upper lip vermilion0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000219HP:0000219Thin upper lip vermilion0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000219HP:0000219Thin upper lip vermilion0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0000219HP:0000219Thin upper lip vermilion0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000219HP:0000219Thin upper lip vermilion0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000219HP:0000219Thin upper lip vermilion0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000219HP:0000219Thin upper lip vermilion0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000219HP:0000219Thin upper lip vermilion0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000219HP:0000219Thin upper lip vermilion0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000219HP:0000219Thin upper lip vermilion0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000219HP:0000219Thin upper lip vermilion0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0000219HP:0000219Thin upper lip vermilion0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000219HP:0000219Thin upper lip vermilion0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000219HP:0000219Thin upper lip vermilion0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000219HP:0000219Thin upper lip vermilion0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000219HP:0000219Thin upper lip vermilion0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000219HP:0000219Thin upper lip vermilion0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0000219HP:0000219Thin upper lip vermilion0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0000219HP:0000219Thin upper lip vermilion0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000219HP:0000219Thin upper lip vermilion0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000219HP:0000219Thin upper lip vermilion0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000219HP:0000219Thin upper lip vermilion0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000219HP:0000219Thin upper lip vermilion0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000219HP:0000219Thin upper lip vermilion0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000219HP:0000219Thin upper lip vermilion0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000219HP:0000219Thin upper lip vermilion0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000219HP:0000219Thin upper lip vermilion0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000219HP:0000219Thin upper lip vermilion0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000219HP:0000219Thin upper lip vermilion0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000219HP:0000219Thin upper lip vermilion0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0000219HP:0000219Thin upper lip vermilion0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000219HP:0000219Thin upper lip vermilion0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000219HP:0000219Thin upper lip vermilion0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0000219HP:0000219Thin upper lip vermilion0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000219HP:0000219Thin upper lip vermilion0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000219HP:0000219Thin upper lip vermilion0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000219HP:0000219Thin upper lip vermilion0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000219HP:0000219Thin upper lip vermilion0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000219HP:0000219Thin upper lip vermilion0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000219HP:0000219Thin upper lip vermilion0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000219HP:0000219Thin upper lip vermilion0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000219HP:0000219Thin upper lip vermilion0GNAI1 CL E G H27704384OMIM:619854
HP:0000219HP:0000219Thin upper lip vermilion0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000219HP:0000219Thin upper lip vermilion0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000219HP:0000219Thin upper lip vermilion0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000219HP:0000219Thin upper lip vermilion0H4C5 CL E G H83674790OMIM:619950
HP:0000219HP:0000219Thin upper lip vermilion0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0000219HP:0000219Thin upper lip vermilion0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000219HP:0000219Thin upper lip vermilion0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000219HP:0000219Thin upper lip vermilion0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000219HP:0000219Thin upper lip vermilion0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000219HP:0000219Thin upper lip vermilion0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000219HP:0000219Thin upper lip vermilion0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0000219HP:0000219Thin upper lip vermilion0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000219HP:0000219Thin upper lip vermilion0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000219HP:0000219Thin upper lip vermilion0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000219HP:0000219Thin upper lip vermilion0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040281 - Very frequent99
HP:0000219HP:0000219Thin upper lip vermilion0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000219HP:0000219Thin upper lip vermilion0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000219HP:0000219Thin upper lip vermilion0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0000219HP:0000219Thin upper lip vermilion0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000219HP:0000219Thin upper lip vermilion0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000219HP:0000219Thin upper lip vermilion0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000219HP:0000219Thin upper lip vermilion0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000219HP:0000219Thin upper lip vermilion0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000219HP:0000219Thin upper lip vermilion0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000219HP:0000219Thin upper lip vermilion0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000219HP:0000219Thin upper lip vermilion0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0000219HP:0000219Thin upper lip vermilion0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000219HP:0000219Thin upper lip vermilion0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000219HP:0000219Thin upper lip vermilion0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000219HP:0000219Thin upper lip vermilion0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent9
HP:0000219HP:0000219Thin upper lip vermilion0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000219HP:0000219Thin upper lip vermilion0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000219HP:0000219Thin upper lip vermilion0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000219HP:0000219Thin upper lip vermilion0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent112
HP:0000219HP:0000219Thin upper lip vermilion0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0000219HP:0000219Thin upper lip vermilion0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0000219HP:0000219Thin upper lip vermilion0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000219HP:0000219Thin upper lip vermilion0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000219HP:0000219Thin upper lip vermilion0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000219HP:0000219Thin upper lip vermilion0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000219HP:0000219Thin upper lip vermilion0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0000219HP:0000219Thin upper lip vermilion0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000219HP:0000219Thin upper lip vermilion0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000219HP:0000219Thin upper lip vermilion0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000219HP:0000219Thin upper lip vermilion0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0000219HP:0000219Thin upper lip vermilion0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000219HP:0000219Thin upper lip vermilion0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000219HP:0000219Thin upper lip vermilion0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000219HP:0000219Thin upper lip vermilion0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent155
HP:0000219HP:0000219Thin upper lip vermilion0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000219HP:0000219Thin upper lip vermilion0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000219HP:0000219Thin upper lip vermilion0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000219HP:0000219Thin upper lip vermilion0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000219HP:0000219Thin upper lip vermilion0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000219HP:0000219Thin upper lip vermilion0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0000219HP:0000219Thin upper lip vermilion0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000219HP:0000219Thin upper lip vermilion0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000219HP:0000219Thin upper lip vermilion0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent5
HP:0000219HP:0000219Thin upper lip vermilion0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000219HP:0000219Thin upper lip vermilion0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000219HP:0000219Thin upper lip vermilion0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000219HP:0000219Thin upper lip vermilion0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000219HP:0000219Thin upper lip vermilion0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiencyHP:0040283 - Occasional6
HP:0000219HP:0000219Thin upper lip vermilion0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000219HP:0000219Thin upper lip vermilion0MYMX CL E G H10192972652391OMIM:619941
HP:0000219HP:0000219Thin upper lip vermilion0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000219HP:0000219Thin upper lip vermilion0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000219HP:0000219Thin upper lip vermilion0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000219HP:0000219Thin upper lip vermilion0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0000219HP:0000219Thin upper lip vermilion0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0000219HP:0000219Thin upper lip vermilion0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0000219HP:0000219Thin upper lip vermilion0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0000219HP:0000219Thin upper lip vermilion0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0000219HP:0000219Thin upper lip vermilion0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000219HP:0000219Thin upper lip vermilion0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000219HP:0000219Thin upper lip vermilion0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000219HP:0000219Thin upper lip vermilion0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000219HP:0000219Thin upper lip vermilion0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0000219HP:0000219Thin upper lip vermilion0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000219HP:0000219Thin upper lip vermilion0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000219HP:0000219Thin upper lip vermilion0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0000219HP:0000219Thin upper lip vermilion0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000219HP:0000219Thin upper lip vermilion0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000219HP:0000219Thin upper lip vermilion0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000219HP:0000219Thin upper lip vermilion0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000219HP:0000219Thin upper lip vermilion0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000219HP:0000219Thin upper lip vermilion0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000219HP:0000219Thin upper lip vermilion0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000219HP:0000219Thin upper lip vermilion0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000219HP:0000219Thin upper lip vermilion0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000219HP:0000219Thin upper lip vermilion0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000219HP:0000219Thin upper lip vermilion0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000219HP:0000219Thin upper lip vermilion0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000219HP:0000219Thin upper lip vermilion0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0000219HP:0000219Thin upper lip vermilion0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent16
HP:0000219HP:0000219Thin upper lip vermilion0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0000219HP:0000219Thin upper lip vermilion0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000219HP:0000219Thin upper lip vermilion0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000219HP:0000219Thin upper lip vermilion0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000219HP:0000219Thin upper lip vermilion0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000219HP:0000219Thin upper lip vermilion0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000219HP:0000219Thin upper lip vermilion0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000219HP:0000219Thin upper lip vermilion0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000219HP:0000219Thin upper lip vermilion0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0000219HP:0000219Thin upper lip vermilion0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0000219HP:0000219Thin upper lip vermilion0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000219HP:0000219Thin upper lip vermilion0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000219HP:0000219Thin upper lip vermilion0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0000219HP:0000219Thin upper lip vermilion0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000219HP:0000219Thin upper lip vermilion0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000219HP:0000219Thin upper lip vermilion0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000219HP:0000219Thin upper lip vermilion0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000219HP:0000219Thin upper lip vermilion0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000219HP:0000219Thin upper lip vermilion0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000219HP:0000219Thin upper lip vermilion0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0000219HP:0000219Thin upper lip vermilion0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000219HP:0000219Thin upper lip vermilion0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0000219HP:0000219Thin upper lip vermilion0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0000219HP:0000219Thin upper lip vermilion0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000219HP:0000219Thin upper lip vermilion0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000219HP:0000219Thin upper lip vermilion0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000219HP:0000219Thin upper lip vermilion0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000219HP:0000219Thin upper lip vermilion0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000219HP:0000219Thin upper lip vermilion0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000219HP:0000219Thin upper lip vermilion0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent11
HP:0000219HP:0000219Thin upper lip vermilion0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000219HP:0000219Thin upper lip vermilion0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000219HP:0000219Thin upper lip vermilion0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0000219HP:0000219Thin upper lip vermilion0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000219HP:0000219Thin upper lip vermilion0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000219HP:0000219Thin upper lip vermilion0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0000219HP:0000219Thin upper lip vermilion0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000219HP:0000219Thin upper lip vermilion0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000219HP:0000219Thin upper lip vermilion0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000219HP:0000219Thin upper lip vermilion0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000219HP:0000219Thin upper lip vermilion0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000219HP:0000219Thin upper lip vermilion0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0000219HP:0000219Thin upper lip vermilion0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent4
HP:0000219HP:0000219Thin upper lip vermilion0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000219HP:0000219Thin upper lip vermilion0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0000219HP:0000219Thin upper lip vermilion0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000219HP:0000219Thin upper lip vermilion0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000219HP:0000219Thin upper lip vermilion0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000219HP:0000219Thin upper lip vermilion0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000219HP:0000219Thin upper lip vermilion0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000219HP:0000219Thin upper lip vermilion0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000219HP:0000219Thin upper lip vermilion0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0000219HP:0000219Thin upper lip vermilion0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000219HP:0000219Thin upper lip vermilion0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000219HP:0000219Thin upper lip vermilion0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000219HP:0000219Thin upper lip vermilion0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0000219HP:0000219Thin upper lip vermilion0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0000219HP:0000219Thin upper lip vermilion0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0000219HP:0000219Thin upper lip vermilion0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000219HP:0000219Thin upper lip vermilion0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000219HP:0000219Thin upper lip vermilion0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000219HP:0000219Thin upper lip vermilion0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0000219HP:0000219Thin upper lip vermilion0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0000219HP:0000219Thin upper lip vermilion0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0000219HP:0000219Thin upper lip vermilion0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0000219HP:0000219Thin upper lip vermilion0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000219HP:0000219Thin upper lip vermilion0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0000219HP:0000219Thin upper lip vermilion0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000219HP:0000219Thin upper lip vermilion0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000219HP:0000219Thin upper lip vermilion0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000219HP:0000219Thin upper lip vermilion0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000219HP:0000219Thin upper lip vermilion0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000219HP:0000219Thin upper lip vermilion0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000219HP:0000219Thin upper lip vermilion0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000219HP:0000219Thin upper lip vermilion0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0000219HP:0000219Thin upper lip vermilion0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0000219HP:0000219Thin upper lip vermilion0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0000219HP:0000219Thin upper lip vermilion0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000219HP:0000219Thin upper lip vermilion0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0000219HP:0000219Thin upper lip vermilion0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000219HP:0000219Thin upper lip vermilion0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000219HP:0000219Thin upper lip vermilion0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000219HP:0000219Thin upper lip vermilion0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000219HP:0000219Thin upper lip vermilion0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000219HP:0000219Thin upper lip vermilion0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000219HP:0000219Thin upper lip vermilion0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent99
HP:0000219HP:0000219Thin upper lip vermilion0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000219HP:0000219Thin upper lip vermilion0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0000219HP:0000219Thin upper lip vermilion0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0000219HP:0000219Thin upper lip vermilion0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0000219HP:0000219Thin upper lip vermilion0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000219HP:0000219Thin upper lip vermilion0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0000219HP:0000219Thin upper lip vermilion0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent2
HP:0000219HP:0000219Thin upper lip vermilion0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000219HP:0000219Thin upper lip vermilion0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000219HP:0000219Thin upper lip vermilion0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000219HP:0000219Thin upper lip vermilion0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0000219HP:0000219Thin upper lip vermilion0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0000219HP:0000219Thin upper lip vermilion0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000219HP:0000219Thin upper lip vermilion0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000219HP:0000219Thin upper lip vermilion0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000219HP:0000219Thin upper lip vermilion0TMEM147 CL E G H1043030414OMIM:620075
HP:0000219HP:0000219Thin upper lip vermilion0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000219HP:0000219Thin upper lip vermilion0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000219HP:0000219Thin upper lip vermilion0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0000219HP:0000219Thin upper lip vermilion0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000219HP:0000219Thin upper lip vermilion0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000219HP:0000219Thin upper lip vermilion0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000219HP:0000219Thin upper lip vermilion0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 492
HP:0000219HP:0000219Thin upper lip vermilion0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000219HP:0000219Thin upper lip vermilion0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0000219HP:0000219Thin upper lip vermilion0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000219HP:0000219Thin upper lip vermilion0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III171
HP:0000219HP:0000219Thin upper lip vermilion0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000219HP:0000219Thin upper lip vermilion0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000219HP:0000219Thin upper lip vermilion0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000219HP:0000219Thin upper lip vermilion0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000219HP:0000219Thin upper lip vermilion0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0000219HP:0000219Thin upper lip vermilion0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0000219HP:0000219Thin upper lip vermilion0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000219HP:0000219Thin upper lip vermilion0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000219HP:0000219Thin upper lip vermilion0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000219HP:0000219Thin upper lip vermilion0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000219HP:0000219Thin upper lip vermilion0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000219HP:0000219Thin upper lip vermilion0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000219HP:0000219Thin upper lip vermilion0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0000219HP:0000219Thin upper lip vermilion0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0000219HP:0000219Thin upper lip vermilion0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent224
HP:0000219HP:0000219Thin upper lip vermilion0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000219HP:0000219Thin upper lip vermilion0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000219HP:0000219Thin upper lip vermilion0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000219HP:0000219Thin upper lip vermilion0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000219HP:0000219Thin upper lip vermilion0ZNF526 CL E G H11611529415OMIM:61987724


Genes (290) :AARS1 ABCC9 ACTB ACTG1 ADARB1 ADGRG6 ADNP ADSL AFF3 AFF4 AGL AGO2 ALG12 ALG9 AMMECR1 ANKLE2 ANKRD11 ANKRD17 AP2M1 AP3B1 ARHGEF2 ARID1A ARID1B ARID2 ARX ASPM ASXL2 ASXL3 ATIC ATN1 ATP6V1B2 ATRX B3GLCT B4GALT1 BCL11A BCL11B BCR BMP2 BPTF CACNA1C CCNQ CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CHAMP1 CHD2 CHST14 CIT CLCN3 CLCN6 CLP1 CLTC CNOT2 COG1 COPB2 CPLX1 CREBBP CRKL CSNK2A1 CTCF CTNNB1 DCPS DDB1 DDX59 DHPS DPF2 DPM2 DSE DVL1 DYRK1A EBF3 EDEM3 EIF5A EP300 EXOC2 EXOSC2 EXT1 FAR1 FBN1 FIG4 FOXG1 GAD1 GATAD2B GJA5 GJA8 GLIS3 GNAI1 GNB2 GNE H4C5 HDAC8 HERC2 HIVEP2 HK1 HS2ST1 HUWE1 IFIH1 IFT43 IGF1R IPW IRF6 IRX5 KAT6A KATNB1 KCNJ2 KCNJ5 KCNK4 KCNMA1 KDM1A KDM3B KDM5C KIF11 KIF14 KIF15 KMT2A KNL1 LAS1L LMBRD1 MAF MAGEL2 MAN1B1 MAPK1 MAPK8IP3 MAPRE2 MBD5 MCM7 MCPH1 MCTP2 MED12 MED12L MED13 MEF2C MEIS2 METTL5 MFSD2A MID1 MKRN3 MKRN3-AS1 MKS1 MPC1 MTOR MYMX MYO18B NAA10 NALCN NCAPD3 NDN NEXMIF NFIA NIPBL NOG NONO NPAP1 OCA2 OCRL ODC1 OFD1 OGT OPHN1 OTUD6B PACS1 PACS2 PAK3 PBX1 PCGF2 PDE4D PDGFRB PGAP3 PHC1 PIEZO2 PIGG PIGK PIGN PIGQ PIGU PIGV PITX2 PLPBP PMM2 POGZ POLR3A PPM1D PPP1CB PPP1R15B PPP2R5D PQBP1 PRKAR1B PRKDC PSMD12 PTRH2 PUF60 PURA PWAR1 PWRN1 PYCR2 QRICH1 RAD21 RAI1 RALA RHOBTB2 RNF135 RNU4ATAC ROR2 RPL10 SASS6 SATB2 SCN1A SEC23A SETBP1 SETD5 SH3PXD2B SHMT2 SIM1 SIN3A SLC25A24 SLC26A2 SLC2A1 SLC6A1 SLC9A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SPECC1L SPEN SPTBN1 SRCAP STAG2 STEEP1 STIL STT3A SYNGAP1 SYT1 TAF1 TAF13 TAF6 TASP1 TBC1D24 TBL1XR1 TCF20 THUMPD1 TLK2 TMEM147 TMEM94 TNRC6B TRAPPC10 TRAPPC14 TRAPPC9 TRIO TRIP12 TRMT10A TRPS1 TRRAP TTC5 TUBGCP2 UBE3B UNC80 USP9X VPS35L VPS51 WAC WARS2 WASHC4 WDR19 WDR62 WNT5A ZBTB18 ZNF292 ZNF407 ZNF526

Diseases (281) :OMIM:619691 OMIM:619719 OMIM:243310 OMIM:614583 OMIM:618862 OMIM:616503 ORPHA:404448 OMIM:615873 OMIM:103050 ORPHA:46 OMIM:619297 ORPHA:444077 OMIM:232400 OMIM:619149 ORPHA:79324 OMIM:607143 ORPHA:79328 OMIM:300990 ORPHA:2512 ORPHA:2332 OMIM:619504 OMIM:618587 ORPHA:1942 OMIM:608233 OMIM:617523 ORPHA:1465 OMIM:135900 OMIM:300215 OMIM:617190 OMIM:615485 ORPHA:250977 OMIM:608688 OMIM:618494 ORPHA:79500 OMIM:309580 ORPHA:709 OMIM:261540 ORPHA:79332 OMIM:617101 OMIM:618092 ORPHA:261330 OMIM:617877 ORPHA:529962 OMIM:617755 OMIM:620029 OMIM:601005 ORPHA:140952 OMIM:300707 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:211380 OMIM:619736 OMIM:618929 OMIM:617694 OMIM:617360 OMIM:616579 OMIM:601776 ORPHA:2953 OMIM:619517 OMIM:619173 OMIM:615803 OMIM:617854 OMIM:618608 ORPHA:263508 OMIM:611209 OMIM:617976 OMIM:618332 OMIM:180849 OMIM:617062 ORPHA:363611 OMIM:615075 ORPHA:404473 OMIM:616459 OMIM:619426 OMIM:174300 OMIM:618480 OMIM:618027 OMIM:615042 ORPHA:329178 OMIM:180700 OMIM:616331 OMIM:614104 OMIM:617330 OMIM:619493 OMIM:619376 OMIM:618333 OMIM:619306 OMIM:617763 ORPHA:502 ORPHA:438178 OMIM:616154 OMIM:614185 OMIM:216340 OMIM:613454 OMIM:619124 OMIM:615074 ORPHA:363686 OMIM:612474 OMIM:610199 OMIM:619854 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:619950 ORPHA:3459 OMIM:176270 OMIM:616977 OMIM:618547 OMIM:619194 OMIM:309590 OMIM:182250 OMIM:617866 OMIM:270450 ORPHA:1300 OMIM:611174 OMIM:616268 ORPHA:457193 OMIM:616212 OMIM:170390 ORPHA:37553 OMIM:618381 OMIM:618729 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:300534 OMIM:152950 ORPHA:261323 ORPHA:319182 OMIM:605130 OMIM:277380 ORPHA:1272 OMIM:601088 ORPHA:398069 ORPHA:177901 ORPHA:397941 OMIM:614202 OMIM:618443 OMIM:616734 OMIM:156200 ORPHA:1596 OMIM:309520 OMIM:618872 OMIM:618009 OMIM:613443 OMIM:600987 OMIM:618665 OMIM:300000 OMIM:249000 OMIM:614741 OMIM:616638 OMIM:619941 OMIM:616549 OMIM:300855 OMIM:615419 ORPHA:371364 OMIM:613735 OMIM:122470 OMIM:186500 ORPHA:466791 ORPHA:534 OMIM:619075 OMIM:300209 OMIM:300997 OMIM:300486 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:300558 OMIM:617641 OMIM:618371 ORPHA:439822 OMIM:616592 OMIM:615716 OMIM:617146 ORPHA:488635 OMIM:618879 ORPHA:280633 OMIM:618548 OMIM:618590 OMIM:239300 OMIM:180500 OMIM:617290 OMIM:212065 ORPHA:79318 ORPHA:468678 ORPHA:3455 OMIM:617450 OMIM:617506 ORPHA:391408 ORPHA:457279 OMIM:309500 OMIM:619680 OMIM:615966 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:438216 OMIM:617982 OMIM:614701 ORPHA:477817 OMIM:619311 OMIM:618004 ORPHA:137634 OMIM:616651 ORPHA:353298 OMIM:268310 OMIM:300998 ORPHA:459070 ORPHA:435938 ORPHA:576283 OMIM:607812 OMIM:616078 ORPHA:404440 OMIM:615761 OMIM:249420 OMIM:619121 ORPHA:398079 OMIM:613406 OMIM:612289 ORPHA:56304 OMIM:301024 OMIM:139210 OMIM:619293 OMIM:601358 OMIM:618362 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:618622 ORPHA:177907 OMIM:145420 OMIM:619312 OMIM:619475 OMIM:619595 OMIM:136140 OMIM:301022 OMIM:301013 OMIM:619714 OMIM:618218 ORPHA:522077 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:618950 OMIM:220500 ORPHA:487825 OMIM:618430 OMIM:619989 OMIM:618050 OMIM:620075 OMIM:618316 OMIM:619243 ORPHA:352530 OMIM:617061 OMIM:617752 OMIM:190350 OMIM:190351 OMIM:618454 OMIM:619244 OMIM:618737 OMIM:244450 OMIM:616801 ORPHA:480880 OMIM:619135 OMIM:618606 OMIM:616708 ORPHA:466950 ORPHA:572798 OMIM:615817 OMIM:614376 OMIM:612337 OMIM:619188 OMIM:619557 OMIM:619877
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.