Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal lip morphology (HP:0000159)help
..Starting node
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Thin vermilion border (HP:0000233)help
Term ID: 233
Name: Thin vermilion border
Synonym: Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermilion borders; Thin vermillion
Definition: Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Comments:
Reference: HP:0000233
Genes and Diseases:
 
       Child Nodes:
........expandThin upper lip vermilion (HP:0000219) help
........expandThin lower lip vermilion (HP:0010282) help

 Sister Nodes: 
..expandAbnormal lower lip morphology (HP:0000178) help
..expandAbnormal upper lip morphology (HP:0000177) help
..expandChapped lip (HP:0040181) help
..expandCheilitis (HP:0100825) help
..expandEclabion (HP:0012472) help
..expandFused lips (HP:0100788) help
..expandLip discoloration (HP:0025118) help
..expandLip fissure (HP:0031250) help
..expandLip freckle (HP:0010798) help
..expandLip hyperpigmentation (HP:0100816) help
..expandLip pit (HP:0100267) help
..expandLip telangiectasia (HP:0000214) help
..expandNeoplasm of the lip (HP:0100604) help
..expandSwollen lip (HP:0031244) help
..expandThick vermilion border (HP:0012471) help
..expandVascular malformation of the lip (HP:0031486) 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:0000233HP:0000233Thin vermilion border0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000233HP:0000233Thin vermilion border0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000233HP:0000233Thin vermilion border0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent19
HP:0000233HP:0000233Thin vermilion border0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000233HP:0000233Thin vermilion border0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000233HP:0000233Thin vermilion border0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000233HP:0000233Thin vermilion border0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000233HP:0000233Thin vermilion border0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000233HP:0000233Thin vermilion border0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0000233HP:0000233Thin vermilion border0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000233HP:0000233Thin vermilion border0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000233HP:0000233Thin vermilion border0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0000233HP:0000233Thin vermilion border0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiency118
HP:0000233HP:0000233Thin vermilion border0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000233HP:0000233Thin vermilion border0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000233HP:0000233Thin vermilion border0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0000233HP:0000233Thin vermilion border0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000233HP:0000233Thin vermilion border0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0000233HP:0000233Thin vermilion border0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000233HP:0000233Thin vermilion border0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0000233HP:0000233Thin vermilion border0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000233HP:0000233Thin vermilion border0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent2
HP:0000233HP:0000233Thin vermilion border0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000233HP:0000233Thin vermilion border0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephaly3
HP:0000233HP:0000233Thin vermilion border0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000233HP:0000233Thin vermilion border0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000233HP:0000233Thin vermilion border0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000233HP:0000233Thin vermilion border0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0000233HP:0000233Thin vermilion border0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000233HP:0000233Thin vermilion border0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000233HP:0000233Thin vermilion border0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0000233HP:0000233Thin vermilion border0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0000233HP:0000233Thin vermilion border0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000233HP:0000233Thin vermilion border0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0000233HP:0000233Thin vermilion border0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0000233HP:0000233Thin vermilion border0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephaly512
HP:0000233HP:0000233Thin vermilion border0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000233HP:0000233Thin vermilion border0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000233HP:0000233Thin vermilion border0ATIC CL E G H471794ORPHA:250977AICA-ribosiduria4
HP:0000233HP:0000233Thin vermilion border0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency4
HP:0000233HP:0000233Thin vermilion border0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000233HP:0000233Thin vermilion border0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000233HP:0000233Thin vermilion border0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000233HP:0000233Thin vermilion border0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000233HP:0000233Thin vermilion border0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000233HP:0000233Thin vermilion border0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000233HP:0000233Thin vermilion border0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000233HP:0000233Thin vermilion border0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin11
HP:0000233HP:0000233Thin vermilion border0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0000233HP:0000233Thin vermilion border0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000233HP:0000233Thin vermilion border0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000233HP:0000233Thin vermilion border0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0000233HP:0000233Thin vermilion border0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0000233HP:0000233Thin vermilion border0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000233HP:0000233Thin vermilion border0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000233HP:0000233Thin vermilion border0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000233HP:0000233Thin vermilion border0CACNA1C CL E G H7751390OMIM:620029572
HP:0000233HP:0000233Thin vermilion border0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0000233HP:0000233Thin vermilion border0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000233HP:0000233Thin vermilion border0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0000233HP:0000233Thin vermilion border0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0000233HP:0000233Thin vermilion border0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0000233HP:0000233Thin vermilion border0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0000233HP:0000233Thin vermilion border0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000233HP:0000233Thin vermilion border0CDC42BPB CL E G H95781738OMIM:619841
HP:0000233HP:0000233Thin vermilion border0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040282 - Frequent2
HP:0000233HP:0000233Thin vermilion border0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000233HP:0000233Thin vermilion border0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000233HP:0000233Thin vermilion border0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000233HP:0000233Thin vermilion border0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000233HP:0000233Thin vermilion border0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000233HP:0000233Thin vermilion border0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephaly181
HP:0000233HP:0000233Thin vermilion border0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephaly6
HP:0000233HP:0000233Thin vermilion border0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephaly161
HP:0000233HP:0000233Thin vermilion border0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephaly38
HP:0000233HP:0000233Thin vermilion border0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephaly146
HP:0000233HP:0000233Thin vermilion border0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephaly31
HP:0000233HP:0000233Thin vermilion border0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000233HP:0000233Thin vermilion border0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0000233HP:0000233Thin vermilion border0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000233HP:0000233Thin vermilion border0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000233HP:0000233Thin vermilion border0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephaly15
HP:0000233HP:0000233Thin vermilion border0CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent5
HP:0000233HP:0000233Thin vermilion border0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000233HP:0000233Thin vermilion border0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040283 - Occasional7
HP:0000233HP:0000233Thin vermilion border0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000233HP:0000233Thin vermilion border0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000233HP:0000233Thin vermilion border0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0000233HP:0000233Thin vermilion border0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000233HP:0000233Thin vermilion border0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0000233HP:0000233Thin vermilion border0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0000233HP:0000233Thin vermilion border0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0000233HP:0000233Thin vermilion border0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000233HP:0000233Thin vermilion border0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000233HP:0000233Thin vermilion border0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0000233HP:0000233Thin vermilion border0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephaly
HP:0000233HP:0000233Thin vermilion border0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0000233HP:0000233Thin vermilion border0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000233HP:0000233Thin vermilion border0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000233HP:0000233Thin vermilion border0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000233HP:0000233Thin vermilion border0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0000233HP:0000233Thin vermilion border0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000233HP:0000233Thin vermilion border0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000233HP:0000233Thin vermilion border0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0000233HP:0000233Thin vermilion border0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndrome88
HP:0000233HP:0000233Thin vermilion border0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome5
HP:0000233HP:0000233Thin vermilion border0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000233HP:0000233Thin vermilion border0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0000233HP:0000233Thin vermilion border0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000233HP:0000233Thin vermilion border0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000233HP:0000233Thin vermilion border0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0000233HP:0000233Thin vermilion border0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0000233HP:0000233Thin vermilion border0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0000233HP:0000233Thin vermilion border0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0000233HP:0000233Thin vermilion border0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0000233HP:0000233Thin vermilion border0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000233HP:0000233Thin vermilion border0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000233HP:0000233Thin vermilion border0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000233HP:0000233Thin vermilion border0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional7
HP:0000233HP:0000233Thin vermilion border0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000233HP:0000233Thin vermilion border0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000233HP:0000233Thin vermilion border0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000233HP:0000233Thin vermilion border0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000233HP:0000233Thin vermilion border0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000233HP:0000233Thin vermilion border0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000233HP:0000233Thin vermilion border0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000233HP:0000233Thin vermilion border0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional209
HP:0000233HP:0000233Thin vermilion border0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional137
HP:0000233HP:0000233Thin vermilion border0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000233HP:0000233Thin vermilion border0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000233HP:0000233Thin vermilion border0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0000233HP:0000233Thin vermilion border0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0000233HP:0000233Thin vermilion border0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000233HP:0000233Thin vermilion border0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0000233HP:0000233Thin vermilion border0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000233HP:0000233Thin vermilion border0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000233HP:0000233Thin vermilion border0FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent90
HP:0000233HP:0000233Thin vermilion border0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0000233HP:0000233Thin vermilion border0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000233HP:0000233Thin vermilion border0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0000233HP:0000233Thin vermilion border0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000233HP:0000233Thin vermilion border0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0000233HP:0000233Thin vermilion border0GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent87
HP:0000233HP:0000233Thin vermilion border0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent10
HP:0000233HP:0000233Thin vermilion border0GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent37
HP:0000233HP:0000233Thin vermilion border0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0000233HP:0000233Thin vermilion border0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0000233HP:0000233Thin vermilion border0GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent28
HP:0000233HP:0000233Thin vermilion border0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000233HP:0000233Thin vermilion border0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000233HP:0000233Thin vermilion border0GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent39
HP:0000233HP:0000233Thin vermilion border0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000233HP:0000233Thin vermilion border0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional1
HP:0000233HP:0000233Thin vermilion border0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0000233HP:0000233Thin vermilion border0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0000233HP:0000233Thin vermilion border0GNAI1 CL E G H27704384OMIM:619854
HP:0000233HP:0000233Thin vermilion border0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000233HP:0000233Thin vermilion border0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000233HP:0000233Thin vermilion border0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000233HP:0000233Thin vermilion border0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0000233HP:0000233Thin vermilion border0H4C5 CL E G H83674790OMIM:619950
HP:0000233HP:0000233Thin vermilion border0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0000233HP:0000233Thin vermilion border0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000233HP:0000233Thin vermilion border0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000233HP:0000233Thin vermilion border0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0000233HP:0000233Thin vermilion border0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000233HP:0000233Thin vermilion border0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000233HP:0000233Thin vermilion border0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000233HP:0000233Thin vermilion border0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000233HP:0000233Thin vermilion border0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040281 - Very frequent39
HP:0000233HP:0000233Thin vermilion border0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000233HP:0000233Thin vermilion border0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0000233HP:0000233Thin vermilion border0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000233HP:0000233Thin vermilion border0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000233HP:0000233Thin vermilion border0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000233HP:0000233Thin vermilion border0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0000233HP:0000233Thin vermilion border0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000233HP:0000233Thin vermilion border0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistanceHP:0040282 - Frequent268
HP:0000233HP:0000233Thin vermilion border0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000233HP:0000233Thin vermilion border0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000233Thin vermilion border0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndrome99
HP:0000233HP:0000233Thin vermilion border0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000233HP:0000233Thin vermilion border0JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent257
HP:0000233HP:0000233Thin vermilion border0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000233HP:0000233Thin vermilion border0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome34
HP:0000233HP:0000233Thin vermilion border0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000233HP:0000233Thin vermilion border0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent5
HP:0000233HP:0000233Thin vermilion border0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000233HP:0000233Thin vermilion border0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0000233HP:0000233Thin vermilion border0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0000233HP:0000233Thin vermilion border0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000233HP:0000233Thin vermilion border0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000233HP:0000233Thin vermilion border0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000233HP:0000233Thin vermilion border0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000233HP:0000233Thin vermilion border0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000233HP:0000233Thin vermilion border0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000233HP:0000233Thin vermilion border0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000233HP:0000233Thin vermilion border0KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent40
HP:0000233HP:0000233Thin vermilion border0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0000233HP:0000233Thin vermilion border0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephaly9
HP:0000233HP:0000233Thin vermilion border0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0000233HP:0000233Thin vermilion border0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000233HP:0000233Thin vermilion border0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0000233HP:0000233Thin vermilion border0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0000233HP:0000233Thin vermilion border0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephaly112
HP:0000233HP:0000233Thin vermilion border0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0000233HP:0000233Thin vermilion border0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome1
HP:0000233HP:0000233Thin vermilion border0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndrome8
HP:0000233HP:0000233Thin vermilion border0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000233HP:0000233Thin vermilion border0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0000233HP:0000233Thin vermilion border0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0000233HP:0000233Thin vermilion border0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0000233HP:0000233Thin vermilion border0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000233HP:0000233Thin vermilion border0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent645
HP:0000233HP:0000233Thin vermilion border0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0000233HP:0000233Thin vermilion border0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000233HP:0000233Thin vermilion border0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000233HP:0000233Thin vermilion border0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0000233HP:0000233Thin vermilion border0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000233HP:0000233Thin vermilion border0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0000233HP:0000233Thin vermilion border0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000233HP:0000233Thin vermilion border0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000233HP:0000233Thin vermilion border0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000233HP:0000233Thin vermilion border0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000233HP:0000233Thin vermilion border0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0000233HP:0000233Thin vermilion border0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000233HP:0000233Thin vermilion border0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000233HP:0000233Thin vermilion border0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephaly
HP:0000233HP:0000233Thin vermilion border0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephaly155
HP:0000233HP:0000233Thin vermilion border0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0000233HP:0000233Thin vermilion border0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000233HP:0000233Thin vermilion border0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000233HP:0000233Thin vermilion border0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000233HP:0000233Thin vermilion border0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000233HP:0000233Thin vermilion border0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000233HP:0000233Thin vermilion border0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0000233HP:0000233Thin vermilion border0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44HP:0040283 - Occasional13
HP:0000233HP:0000233Thin vermilion border0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephaly
HP:0000233HP:0000233Thin vermilion border0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000233HP:0000233Thin vermilion border0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephaly5
HP:0000233HP:0000233Thin vermilion border0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000233HP:0000233Thin vermilion border0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000233HP:0000233Thin vermilion border0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000233HP:0000233Thin vermilion border0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000233Thin vermilion border0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000233HP:0000233Thin vermilion border0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency6
HP:0000233HP:0000233Thin vermilion border0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0000233HP:0000233Thin vermilion border0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0000233HP:0000233Thin vermilion border0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0000233HP:0000233Thin vermilion border0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000233HP:0000233Thin vermilion border0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0000233HP:0000233Thin vermilion border0MYMX CL E G H10192972652391OMIM:619941
HP:0000233HP:0000233Thin vermilion border0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0000233HP:0000233Thin vermilion border0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000233HP:0000233Thin vermilion border0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000233HP:0000233Thin vermilion border0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0000233HP:0000233Thin vermilion border0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0000233HP:0000233Thin vermilion border0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000233HP:0000233Thin vermilion border0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephaly1
HP:0000233HP:0000233Thin vermilion border0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000233HP:0000233Thin vermilion border0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000233HP:0000233Thin vermilion border0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000233HP:0000233Thin vermilion border0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0000233HP:0000233Thin vermilion border0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040283 - Occasional1952
HP:0000233HP:0000233Thin vermilion border0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects12
HP:0000233HP:0000233Thin vermilion border0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000233HP:0000233Thin vermilion border0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000233HP:0000233Thin vermilion border0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent90
HP:0000233HP:0000233Thin vermilion border0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent3
HP:0000233HP:0000233Thin vermilion border0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000233HP:0000233Thin vermilion border0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000233HP:0000233Thin vermilion border0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0000233HP:0000233Thin vermilion border0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000233HP:0000233Thin vermilion border0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000233HP:0000233Thin vermilion border0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0000233HP:0000233Thin vermilion border0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000233HP:0000233Thin vermilion border0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000233HP:0000233Thin vermilion border0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0000233HP:0000233Thin vermilion border0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000233HP:0000233Thin vermilion border0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000233HP:0000233Thin vermilion border0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0000233HP:0000233Thin vermilion border0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000233HP:0000233Thin vermilion border0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0000233HP:0000233Thin vermilion border0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000233HP:0000233Thin vermilion border0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0000233HP:0000233Thin vermilion border0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000233HP:0000233Thin vermilion border0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0000233HP:0000233Thin vermilion border0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0000233HP:0000233Thin vermilion border0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndrome113
HP:0000233HP:0000233Thin vermilion border0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome28
HP:0000233HP:0000233Thin vermilion border0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000233HP:0000233Thin vermilion border0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 420
HP:0000233HP:0000233Thin vermilion border0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephaly16
HP:0000233HP:0000233Thin vermilion border0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000233HP:0000233Thin vermilion border0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000233HP:0000233Thin vermilion border0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0000233HP:0000233Thin vermilion border0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0000233HP:0000233Thin vermilion border0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000233HP:0000233Thin vermilion border0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000233HP:0000233Thin vermilion border0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000233HP:0000233Thin vermilion border0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000233HP:0000233Thin vermilion border0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000233HP:0000233Thin vermilion border0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000233HP:0000233Thin vermilion border0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0000233HP:0000233Thin vermilion border0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome9
HP:0000233HP:0000233Thin vermilion border0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000233HP:0000233Thin vermilion border0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0000233HP:0000233Thin vermilion border0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0000233HP:0000233Thin vermilion border0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0000233HP:0000233Thin vermilion border0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0000233HP:0000233Thin vermilion border0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000233HP:0000233Thin vermilion border0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000233HP:0000233Thin vermilion border0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000233HP:0000233Thin vermilion border0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold22
HP:0000233HP:0000233Thin vermilion border0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0000233HP:0000233Thin vermilion border0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000233HP:0000233Thin vermilion border0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0000233HP:0000233Thin vermilion border0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0000233HP:0000233Thin vermilion border0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0000233HP:0000233Thin vermilion border0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000233HP:0000233Thin vermilion border0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0000233HP:0000233Thin vermilion border0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0000233HP:0000233Thin vermilion border0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000233HP:0000233Thin vermilion border0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0000233HP:0000233Thin vermilion border0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000233HP:0000233Thin vermilion border0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0000233HP:0000233Thin vermilion border0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000233HP:0000233Thin vermilion border0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0000233HP:0000233Thin vermilion border0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0000233HP:0000233Thin vermilion border0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0000233HP:0000233Thin vermilion border0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0000233HP:0000233Thin vermilion border0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000233HP:0000233Thin vermilion border0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome19
HP:0000233HP:0000233Thin vermilion border0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation53
HP:0000233HP:0000233Thin vermilion border0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000233Thin vermilion border0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000233Thin vermilion border0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000233HP:0000233Thin vermilion border0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephaly11
HP:0000233HP:0000233Thin vermilion border0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000233HP:0000233Thin vermilion border0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000233HP:0000233Thin vermilion border0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000233HP:0000233Thin vermilion border0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000233HP:0000233Thin vermilion border0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000233HP:0000233Thin vermilion border0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0000233HP:0000233Thin vermilion border0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000233HP:0000233Thin vermilion border0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0000233HP:0000233Thin vermilion border0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndrome11
HP:0000233HP:0000233Thin vermilion border0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0000233HP:0000233Thin vermilion border0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000233HP:0000233Thin vermilion border0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000233HP:0000233Thin vermilion border0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000233HP:0000233Thin vermilion border0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0000233HP:0000233Thin vermilion border0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome10
HP:0000233HP:0000233Thin vermilion border0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000233HP:0000233Thin vermilion border0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0000233HP:0000233Thin vermilion border0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephaly4
HP:0000233HP:0000233Thin vermilion border0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040282 - Frequent34
HP:0000233HP:0000233Thin vermilion border0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0000233HP:0000233Thin vermilion border0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000233HP:0000233Thin vermilion border0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0000233HP:0000233Thin vermilion border0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000233HP:0000233Thin vermilion border0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000233HP:0000233Thin vermilion border0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000233HP:0000233Thin vermilion border0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000233HP:0000233Thin vermilion border0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0000233HP:0000233Thin vermilion border0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000233HP:0000233Thin vermilion border0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000233HP:0000233Thin vermilion border0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000233HP:0000233Thin vermilion border0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0000233HP:0000233Thin vermilion border0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0000233HP:0000233Thin vermilion border0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000233HP:0000233Thin vermilion border0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000233HP:0000233Thin vermilion border0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0000233HP:0000233Thin vermilion border0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0000233HP:0000233Thin vermilion border0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0000233HP:0000233Thin vermilion border0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0000233HP:0000233Thin vermilion border0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0000233HP:0000233Thin vermilion border0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0000233HP:0000233Thin vermilion border0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000233HP:0000233Thin vermilion border0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000233HP:0000233Thin vermilion border0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0000233HP:0000233Thin vermilion border0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000233HP:0000233Thin vermilion border0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0000233HP:0000233Thin vermilion border0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0000233HP:0000233Thin vermilion border0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0000233HP:0000233Thin vermilion border0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 81
HP:0000233HP:0000233Thin vermilion border0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0000233HP:0000233Thin vermilion border0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0000233HP:0000233Thin vermilion border0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000233HP:0000233Thin vermilion border0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000233HP:0000233Thin vermilion border0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0000233HP:0000233Thin vermilion border0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000233HP:0000233Thin vermilion border0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000233HP:0000233Thin vermilion border0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000233HP:0000233Thin vermilion border0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0000233HP:0000233Thin vermilion border0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000233HP:0000233Thin vermilion border0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000233Thin vermilion border0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000233Thin vermilion border0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0000233HP:0000233Thin vermilion border0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000233HP:0000233Thin vermilion border0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000233HP:0000233Thin vermilion border0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000233HP:0000233Thin vermilion border0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0000233HP:0000233Thin vermilion border0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0000233HP:0000233Thin vermilion border0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0000233HP:0000233Thin vermilion border0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040281 - Very frequent6
HP:0000233HP:0000233Thin vermilion border0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000233HP:0000233Thin vermilion border0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000233HP:0000233Thin vermilion border0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000233HP:0000233Thin vermilion border0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000233HP:0000233Thin vermilion border0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0000233HP:0000233Thin vermilion border0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0000233HP:0000233Thin vermilion border0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000233HP:0000233Thin vermilion border0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephaly99
HP:0000233HP:0000233Thin vermilion border0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000233HP:0000233Thin vermilion border0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent237
HP:0000233HP:0000233Thin vermilion border0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0000233HP:0000233Thin vermilion border0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000233HP:0000233Thin vermilion border0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0000233HP:0000233Thin vermilion border0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0000233HP:0000233Thin vermilion border0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000233HP:0000233Thin vermilion border0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0000233HP:0000233Thin vermilion border0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephaly2
HP:0000233HP:0000233Thin vermilion border0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome5
HP:0000233HP:0000233Thin vermilion border0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0000233HP:0000233Thin vermilion border0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000233HP:0000233Thin vermilion border0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000233HP:0000233Thin vermilion border0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0000233HP:0000233Thin vermilion border0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000233HP:0000233Thin vermilion border0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0000233HP:0000233Thin vermilion border0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000233HP:0000233Thin vermilion border0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040282 - Frequent22
HP:0000233HP:0000233Thin vermilion border0TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent32
HP:0000233HP:0000233Thin vermilion border0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0000233HP:0000233Thin vermilion border0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1
HP:0000233HP:0000233Thin vermilion border0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000233HP:0000233Thin vermilion border0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000233HP:0000233Thin vermilion border0TMEM147 CL E G H1043030414OMIM:620075
HP:0000233HP:0000233Thin vermilion border0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0000233HP:0000233Thin vermilion border0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000233HP:0000233Thin vermilion border0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephaly1
HP:0000233HP:0000233Thin vermilion border0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephaly
HP:0000233HP:0000233Thin vermilion border0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0000233HP:0000233Thin vermilion border0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000233HP:0000233Thin vermilion border0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 492
HP:0000233HP:0000233Thin vermilion border0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0000233HP:0000233Thin vermilion border0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0000233HP:0000233Thin vermilion border0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I171
HP:0000233HP:0000233Thin vermilion border0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III171
HP:0000233HP:0000233Thin vermilion border0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0000233HP:0000233Thin vermilion border0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000233HP:0000233Thin vermilion border0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000233HP:0000233Thin vermilion border0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000233HP:0000233Thin vermilion border0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040283 - Occasional7
HP:0000233HP:0000233Thin vermilion border0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000233HP:0000233Thin vermilion border0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000233HP:0000233Thin vermilion border0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000233HP:0000233Thin vermilion border0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000233HP:0000233Thin vermilion border0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000233HP:0000233Thin vermilion border0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000233HP:0000233Thin vermilion border0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000233HP:0000233Thin vermilion border0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0000233HP:0000233Thin vermilion border0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0000233HP:0000233Thin vermilion border0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000233HP:0000233Thin vermilion border0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000233HP:0000233Thin vermilion border0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000233HP:0000233Thin vermilion border0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000233HP:0000233Thin vermilion border0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000233HP:0000233Thin vermilion border0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0000233HP:0000233Thin vermilion border0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0000233HP:0000233Thin vermilion border0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4HP:0040283 - Occasional95
HP:0000233HP:0000233Thin vermilion border0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0000233HP:0000233Thin vermilion border0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephaly224
HP:0000233HP:0000233Thin vermilion border0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000233HP:0000233Thin vermilion border0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0000233HP:0000233Thin vermilion border0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040283 - Occasional5
HP:0000233HP:0000233Thin vermilion border0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0000233HP:0000233Thin vermilion border0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0000233HP:0000233Thin vermilion border0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent31
HP:0000233HP:0000233Thin vermilion border0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent83
HP:0000233HP:0000233Thin vermilion border0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000233HP:0000233Thin vermilion border0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000233HP:0000233Thin vermilion border0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000233HP:0000219Thin upper lip vermilion1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000233HP:0000219Thin upper lip vermilion1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000233HP:0000219Thin upper lip vermilion1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000233HP:0000219Thin upper lip vermilion1ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2.123
HP:0000233HP:0000219Thin upper lip vermilion1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000233HP:0000219Thin upper lip vermilion1ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0000233HP:0000219Thin upper lip vermilion1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000233HP:0000219Thin upper lip vermilion1ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000233HP:0000219Thin upper lip vermilion1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0000233HP:0000219Thin upper lip vermilion1ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0000233HP:0000219Thin upper lip vermilion1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000233HP:0000219Thin upper lip vermilion1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000233HP:0000219Thin upper lip vermilion1AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0000233HP:0000219Thin upper lip vermilion1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000233HP:0000219Thin upper lip vermilion1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000233HP:0000219Thin upper lip vermilion1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000233HP:0000219Thin upper lip vermilion1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000233HP:0000219Thin upper lip vermilion1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000233HP:0000219Thin upper lip vermilion1ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0000233HP:0000219Thin upper lip vermilion1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000233HP:0000219Thin upper lip vermilion1ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000233HP:0000219Thin upper lip vermilion1AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000233HP:0000219Thin upper lip vermilion1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000233HP:0000219Thin upper lip vermilion1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000233HP:0000219Thin upper lip vermilion1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000233HP:0000219Thin upper lip vermilion1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000233HP:0000219Thin upper lip vermilion1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000233HP:0000219Thin upper lip vermilion1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000233HP:0000219Thin upper lip vermilion1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000233HP:0000219Thin upper lip vermilion1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0000233HP:0000219Thin upper lip vermilion1ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0000233HP:0000219Thin upper lip vermilion1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000233HP:0000219Thin upper lip vermilion1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000233HP:0000219Thin upper lip vermilion1ATIC CL E G H471794ORPHA:250977AICA-ribosiduriaHP:0040281 - Very frequent4
HP:0000233HP:0000219Thin upper lip vermilion1ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency4
HP:0000233HP:0000219Thin upper lip vermilion1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000233HP:0000219Thin upper lip vermilion1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0000233HP:0000219Thin upper lip vermilion1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000233HP:0000219Thin upper lip vermilion1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000233HP:0000219Thin upper lip vermilion1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000233HP:0000219Thin upper lip vermilion1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000233HP:0000219Thin upper lip vermilion1BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000233HP:0000219Thin upper lip vermilion1BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000233HP:0000219Thin upper lip vermilion1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0000233HP:0000219Thin upper lip vermilion1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000233HP:0000219Thin upper lip vermilion1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000233HP:0000219Thin upper lip vermilion1BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000233HP:0000219Thin upper lip vermilion1CACNA1C CL E G H7751390OMIM:620029572
HP:0000233HP:0000219Thin upper lip vermilion1CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0000233HP:0000219Thin upper lip vermilion1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040282 - Frequent7
HP:0000233HP:0000219Thin upper lip vermilion1CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0000233HP:0000219Thin upper lip vermilion1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000233HP:0000219Thin upper lip vermilion1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000233HP:0000219Thin upper lip vermilion1CDC42BPB CL E G H95781738OMIM:619841
HP:0000233HP:0000219Thin upper lip vermilion1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000233HP:0000219Thin upper lip vermilion1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000233HP:0000219Thin upper lip vermilion1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000233HP:0000219Thin upper lip vermilion1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000233HP:0000219Thin upper lip vermilion1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000233HP:0000219Thin upper lip vermilion1CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0000233HP:0000219Thin upper lip vermilion1CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0000233HP:0000219Thin upper lip vermilion1CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0000233HP:0000219Thin upper lip vermilion1CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0000233HP:0000219Thin upper lip vermilion1CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0000233HP:0000219Thin upper lip vermilion1CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0000233HP:0000219Thin upper lip vermilion1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000233HP:0000219Thin upper lip vermilion1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000233HP:0000219Thin upper lip vermilion1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000233HP:0000219Thin upper lip vermilion1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000233HP:0000219Thin upper lip vermilion1CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0000233HP:0000219Thin upper lip vermilion1CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000233HP:0000219Thin upper lip vermilion1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000233HP:0000219Thin upper lip vermilion1CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000233HP:0000219Thin upper lip vermilion1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000233HP:0000219Thin upper lip vermilion1CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0000233HP:0000219Thin upper lip vermilion1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0000233HP:0000219Thin upper lip vermilion1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000233HP:0000219Thin upper lip vermilion1COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000233HP:0000219Thin upper lip vermilion1CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0000233HP:0000219Thin upper lip vermilion1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000233HP:0000219Thin upper lip vermilion1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000233HP:0000219Thin upper lip vermilion1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000233HP:0000219Thin upper lip vermilion1CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000233HP:0000219Thin upper lip vermilion1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000233HP:0000219Thin upper lip vermilion1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000233HP:0000219Thin upper lip vermilion1CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000233HP:0000219Thin upper lip vermilion1DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0000233HP:0000219Thin upper lip vermilion1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000233HP:0000219Thin upper lip vermilion1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000233HP:0000219Thin upper lip vermilion1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000233HP:0000219Thin upper lip vermilion1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000233HP:0000219Thin upper lip vermilion1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000233HP:0000219Thin upper lip vermilion1DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0000233HP:0000219Thin upper lip vermilion1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0000233HP:0000219Thin upper lip vermilion1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000233HP:0000219Thin upper lip vermilion1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000233HP:0000219Thin upper lip vermilion1DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000233HP:0000219Thin upper lip vermilion1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000233HP:0000219Thin upper lip vermilion1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000233HP:0000219Thin upper lip vermilion1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000233HP:0000219Thin upper lip vermilion1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000233HP:0000219Thin upper lip vermilion1EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000233HP:0000219Thin upper lip vermilion1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000233HP:0000219Thin upper lip vermilion1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000233HP:0000219Thin upper lip vermilion1EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000233HP:0000219Thin upper lip vermilion1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0000233HP:0000219Thin upper lip vermilion1FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000233HP:0000219Thin upper lip vermilion1FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000233HP:0000219Thin upper lip vermilion1FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0000233HP:0000219Thin upper lip vermilion1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000233HP:0000219Thin upper lip vermilion1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000233HP:0000219Thin upper lip vermilion1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000233HP:0000219Thin upper lip vermilion1GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000233HP:0000219Thin upper lip vermilion1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000233HP:0000219Thin upper lip vermilion1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000233HP:0000219Thin upper lip vermilion1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000233HP:0000219Thin upper lip vermilion1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000233HP:0000219Thin upper lip vermilion1GNAI1 CL E G H27704384OMIM:619854
HP:0000233HP:0000219Thin upper lip vermilion1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000233HP:0000219Thin upper lip vermilion1GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000233HP:0000219Thin upper lip vermilion1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000233HP:0000219Thin upper lip vermilion1H4C5 CL E G H83674790OMIM:619950
HP:0000233HP:0000219Thin upper lip vermilion1HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0000233HP:0000219Thin upper lip vermilion1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000233HP:0000219Thin upper lip vermilion1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000233HP:0000219Thin upper lip vermilion1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000233HP:0010282Thin lower lip vermilion1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000233HP:0000219Thin upper lip vermilion1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000233HP:0000219Thin upper lip vermilion1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000233HP:0000219Thin upper lip vermilion1IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0000233HP:0000219Thin upper lip vermilion1IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000233HP:0000219Thin upper lip vermilion1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000233HP:0000219Thin upper lip vermilion1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000219Thin upper lip vermilion1IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040281 - Very frequent99
HP:0000233HP:0000219Thin upper lip vermilion1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000233HP:0000219Thin upper lip vermilion1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000233HP:0000219Thin upper lip vermilion1KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0000233HP:0000219Thin upper lip vermilion1KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000233HP:0000219Thin upper lip vermilion1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000233HP:0000219Thin upper lip vermilion1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000233HP:0000219Thin upper lip vermilion1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000233HP:0000219Thin upper lip vermilion1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000233HP:0000219Thin upper lip vermilion1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000233HP:0000219Thin upper lip vermilion1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000233HP:0000219Thin upper lip vermilion1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0000233HP:0000219Thin upper lip vermilion1KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000233HP:0000219Thin upper lip vermilion1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000233HP:0000219Thin upper lip vermilion1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000233HP:0000219Thin upper lip vermilion1KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent9
HP:0000233HP:0000219Thin upper lip vermilion1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000233HP:0000219Thin upper lip vermilion1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000233HP:0000219Thin upper lip vermilion1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000233HP:0000219Thin upper lip vermilion1KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent112
HP:0000233HP:0010282Thin lower lip vermilion1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000233HP:0010282Thin lower lip vermilion1KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0000233HP:0000219Thin upper lip vermilion1LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0000233HP:0000219Thin upper lip vermilion1LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0000233HP:0000219Thin upper lip vermilion1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000233HP:0000219Thin upper lip vermilion1MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000233HP:0000219Thin upper lip vermilion1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000233HP:0000219Thin upper lip vermilion1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000233HP:0000219Thin upper lip vermilion1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0000233HP:0000219Thin upper lip vermilion1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000233HP:0000219Thin upper lip vermilion1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000233HP:0000219Thin upper lip vermilion1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000233HP:0000219Thin upper lip vermilion1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0000233HP:0000219Thin upper lip vermilion1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000233HP:0000219Thin upper lip vermilion1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000233HP:0000219Thin upper lip vermilion1MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000233HP:0000219Thin upper lip vermilion1MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent155
HP:0000233HP:0000219Thin upper lip vermilion1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000233HP:0000219Thin upper lip vermilion1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000233HP:0000219Thin upper lip vermilion1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000233HP:0000219Thin upper lip vermilion1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000233HP:0000219Thin upper lip vermilion1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000233HP:0000219Thin upper lip vermilion1MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0000233HP:0000219Thin upper lip vermilion1METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000233HP:0000219Thin upper lip vermilion1METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000233HP:0000219Thin upper lip vermilion1MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent5
HP:0000233HP:0000219Thin upper lip vermilion1MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000233HP:0000219Thin upper lip vermilion1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000233HP:0000219Thin upper lip vermilion1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000219Thin upper lip vermilion1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000233HP:0000219Thin upper lip vermilion1MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiencyHP:0040283 - Occasional6
HP:0000233HP:0000219Thin upper lip vermilion1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000233HP:0000219Thin upper lip vermilion1MYMX CL E G H10192972652391OMIM:619941
HP:0000233HP:0000219Thin upper lip vermilion1MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000233HP:0000219Thin upper lip vermilion1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000233HP:0000219Thin upper lip vermilion1NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000233HP:0000219Thin upper lip vermilion1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0000233HP:0000219Thin upper lip vermilion1NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0000233HP:0000219Thin upper lip vermilion1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0000233HP:0000219Thin upper lip vermilion1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0000233HP:0000219Thin upper lip vermilion1NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0000233HP:0000219Thin upper lip vermilion1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000233HP:0000219Thin upper lip vermilion1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000233HP:0000219Thin upper lip vermilion1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000233HP:0000219Thin upper lip vermilion1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000233HP:0000219Thin upper lip vermilion1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0000233HP:0000219Thin upper lip vermilion1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000233HP:0000219Thin upper lip vermilion1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000233HP:0000219Thin upper lip vermilion1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0000233HP:0000219Thin upper lip vermilion1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000233HP:0000219Thin upper lip vermilion1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000233HP:0000219Thin upper lip vermilion1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000233HP:0000219Thin upper lip vermilion1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000233HP:0000219Thin upper lip vermilion1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000233HP:0000219Thin upper lip vermilion1PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000233HP:0000219Thin upper lip vermilion1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000233HP:0000219Thin upper lip vermilion1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000233HP:0000219Thin upper lip vermilion1PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000233HP:0000219Thin upper lip vermilion1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000233HP:0000219Thin upper lip vermilion1PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000233HP:0000219Thin upper lip vermilion1PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000233HP:0000219Thin upper lip vermilion1PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0000233HP:0000219Thin upper lip vermilion1PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent16
HP:0000233HP:0000219Thin upper lip vermilion1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0000233HP:0000219Thin upper lip vermilion1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000233HP:0000219Thin upper lip vermilion1PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000233HP:0010282Thin lower lip vermilion1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000233HP:0000219Thin upper lip vermilion1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000233HP:0000219Thin upper lip vermilion1PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000233HP:0000219Thin upper lip vermilion1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000233HP:0000219Thin upper lip vermilion1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000233HP:0010282Thin lower lip vermilion1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000233HP:0010282Thin lower lip vermilion1PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0000233HP:0000219Thin upper lip vermilion1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000233HP:0000219Thin upper lip vermilion1PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0000233HP:0000219Thin upper lip vermilion1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0000233HP:0000219Thin upper lip vermilion1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000233HP:0000219Thin upper lip vermilion1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000233HP:0000219Thin upper lip vermilion1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0000233HP:0000219Thin upper lip vermilion1PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000233HP:0000219Thin upper lip vermilion1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000233HP:0000219Thin upper lip vermilion1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000233HP:0000219Thin upper lip vermilion1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000233HP:0000219Thin upper lip vermilion1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000233HP:0000219Thin upper lip vermilion1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000233HP:0000219Thin upper lip vermilion1PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0000233HP:0000219Thin upper lip vermilion1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000233HP:0000219Thin upper lip vermilion1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0000233HP:0000219Thin upper lip vermilion1PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0000233HP:0000219Thin upper lip vermilion1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000233HP:0000219Thin upper lip vermilion1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000233HP:0000219Thin upper lip vermilion1PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000233HP:0000219Thin upper lip vermilion1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000233HP:0000219Thin upper lip vermilion1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000219Thin upper lip vermilion1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000219Thin upper lip vermilion1PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent11
HP:0000233HP:0000219Thin upper lip vermilion1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000233HP:0000219Thin upper lip vermilion1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000233HP:0000219Thin upper lip vermilion1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0000233HP:0000219Thin upper lip vermilion1RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000233HP:0000219Thin upper lip vermilion1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000233HP:0000219Thin upper lip vermilion1RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0000233HP:0000219Thin upper lip vermilion1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000233HP:0000219Thin upper lip vermilion1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000233HP:0000219Thin upper lip vermilion1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000233HP:0000219Thin upper lip vermilion1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000233HP:0000219Thin upper lip vermilion1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000233HP:0000219Thin upper lip vermilion1RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0000233HP:0000219Thin upper lip vermilion1SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent4
HP:0000233HP:0000219Thin upper lip vermilion1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000233HP:0000219Thin upper lip vermilion1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0000233HP:0000219Thin upper lip vermilion1SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000233HP:0000219Thin upper lip vermilion1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000233HP:0000219Thin upper lip vermilion1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000233HP:0000219Thin upper lip vermilion1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000233HP:0000219Thin upper lip vermilion1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000233HP:0000219Thin upper lip vermilion1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000233HP:0000219Thin upper lip vermilion1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0000233HP:0000219Thin upper lip vermilion1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000233HP:0000219Thin upper lip vermilion1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000233HP:0000219Thin upper lip vermilion1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000233HP:0000219Thin upper lip vermilion1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0000233HP:0000219Thin upper lip vermilion1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0000233HP:0000219Thin upper lip vermilion1SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0000233HP:0000219Thin upper lip vermilion1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000233HP:0000219Thin upper lip vermilion1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000233HP:0000219Thin upper lip vermilion1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000233HP:0000219Thin upper lip vermilion1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0000233HP:0000219Thin upper lip vermilion1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0000233HP:0000219Thin upper lip vermilion1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0000233HP:0000219Thin upper lip vermilion1SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0000233HP:0000219Thin upper lip vermilion1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000233HP:0000219Thin upper lip vermilion1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0000233HP:0000219Thin upper lip vermilion1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000233HP:0000219Thin upper lip vermilion1SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000233HP:0000219Thin upper lip vermilion1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000233HP:0000219Thin upper lip vermilion1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000233HP:0000219Thin upper lip vermilion1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000233HP:0000219Thin upper lip vermilion1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000219Thin upper lip vermilion1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000233HP:0000219Thin upper lip vermilion1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0000233HP:0000219Thin upper lip vermilion1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0000233HP:0000219Thin upper lip vermilion1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0000233HP:0000219Thin upper lip vermilion1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000233HP:0000219Thin upper lip vermilion1SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0000233HP:0000219Thin upper lip vermilion1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000233HP:0000219Thin upper lip vermilion1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000233HP:0000219Thin upper lip vermilion1SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000233HP:0000219Thin upper lip vermilion1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000233HP:0000219Thin upper lip vermilion1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000233HP:0000219Thin upper lip vermilion1STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000233HP:0000219Thin upper lip vermilion1STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent99
HP:0000233HP:0000219Thin upper lip vermilion1STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000233HP:0000219Thin upper lip vermilion1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0000233HP:0000219Thin upper lip vermilion1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0000233HP:0000219Thin upper lip vermilion1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0000233HP:0000219Thin upper lip vermilion1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000233HP:0000219Thin upper lip vermilion1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0000233HP:0000219Thin upper lip vermilion1TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent2
HP:0000233HP:0000219Thin upper lip vermilion1TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000233HP:0000219Thin upper lip vermilion1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000233HP:0000219Thin upper lip vermilion1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000233HP:0000219Thin upper lip vermilion1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0000233HP:0000219Thin upper lip vermilion1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0000233HP:0000219Thin upper lip vermilion1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000233HP:0010282Thin lower lip vermilion1THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0000233HP:0000219Thin upper lip vermilion1THUMPD1 CL E G H5562323807OMIM:619989
HP:0000233HP:0000219Thin upper lip vermilion1TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000233HP:0000219Thin upper lip vermilion1TMEM147 CL E G H1043030414OMIM:620075
HP:0000233HP:0000219Thin upper lip vermilion1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000233HP:0000219Thin upper lip vermilion1TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000233HP:0000219Thin upper lip vermilion1TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0000233HP:0000219Thin upper lip vermilion1TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000233HP:0000219Thin upper lip vermilion1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000233HP:0000219Thin upper lip vermilion1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000233HP:0000219Thin upper lip vermilion1TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 492
HP:0000233HP:0000219Thin upper lip vermilion1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000233HP:0000219Thin upper lip vermilion1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0000233HP:0000219Thin upper lip vermilion1TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000233HP:0000219Thin upper lip vermilion1TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III171
HP:0000233HP:0000219Thin upper lip vermilion1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000233HP:0000219Thin upper lip vermilion1TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000233HP:0000219Thin upper lip vermilion1TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000233HP:0000219Thin upper lip vermilion1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000233HP:0000219Thin upper lip vermilion1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0000233HP:0000219Thin upper lip vermilion1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0000233HP:0000219Thin upper lip vermilion1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000233HP:0000219Thin upper lip vermilion1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000233HP:0000219Thin upper lip vermilion1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000233HP:0000219Thin upper lip vermilion1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000233HP:0000219Thin upper lip vermilion1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000233HP:0000219Thin upper lip vermilion1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000233HP:0000219Thin upper lip vermilion1WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0000233HP:0000219Thin upper lip vermilion1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0000233HP:0000219Thin upper lip vermilion1WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent224
HP:0000233HP:0000219Thin upper lip vermilion1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000233HP:0000219Thin upper lip vermilion1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000233HP:0000219Thin upper lip vermilion1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000233HP:0000219Thin upper lip vermilion1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000233HP:0000219Thin upper lip vermilion1ZNF526 CL E G H11611529415OMIM:61987724


Genes (380) :AARS1 ABCC9 ACSL4 ACTB ACTG1 ADARB1 ADGRG6 ADNP ADSL AFF3 AFF4 AGL AGO2 ALG1 ALG12 ALG9 AMMECR1 ANKLE2 ANKRD11 ANKRD17 AP2M1 AP3B1 ARHGEF2 ARID1A ARID1B ARID2 ARX ASPM ASXL2 ASXL3 ATIC ATN1 ATP6V1B2 ATRX B3GLCT B4GALT1 BANF1 BCL11A BCL11B BCR BMP1 BMP2 BPTF BRAT1 BRD4 CACNA1C CAMTA1 CCNQ CD96 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CHAMP1 CHD2 CHST14 CIT CITED2 CKAP2L CLCN3 CLCN6 CLP1 CLTC CNOT2 COG1 COL3A1 COPB2 CPLX1 CREBBP CRKL CSNK2A1 CTCF CTNNB1 DCPS DDB1 DDRGK1 DDX59 DHPS DNMT3A DPF2 DPM2 DSE DVL1 DYNC2LI1 DYRK1A EBF3 EDEM3 EIF5A EP300 ERCC6 EVC EVC2 EXOC2 EXOSC2 EXT1 FAR1 FBN1 FIG4 FLT4 FMR1 FOXG1 FTO GAD1 GATA4 GATA5 GATA6 GATAD2B GDF1 GJA1 GJA5 GJA8 GLI1 GLIS3 GLUL GNAI1 GNB2 GNE GRB10 H4C5 HDAC4 HDAC8 HERC2 HIVEP2 HK1 HMGA2 HNRNPU HS2ST1 HS6ST2 HUWE1 IARS2 IDH1 IFIH1 IFT43 IGF1R IPW IRF6 IRX5 JAG1 KAT6A KATNB1 KCNE5 KCNJ2 KCNJ5 KCNK4 KCNMA1 KDM1A KDM3B KDM5B KDM5C KDR KIF11 KIF14 KIF15 KIF7 KMT2A KNL1 KNSTRN LAS1L LEMD3 LIFR LIG4 LMBRD1 LMNA LMX1B MAF MAGEL2 MAN1B1 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MBD5 MCM7 MCPH1 MCTP2 MED12 MED12L MED13 MEF2C MEIS2 METTL23 METTL5 MFSD2A MGAT2 MID1 MKRN3 MKRN3-AS1 MKS1 MPC1 MPDU1 MTOR MYL11 MYMK MYMX MYO18B NAA10 NALCN NBAS NCAPD3 NDN NDP NEXMIF NF1 NFIA NIPBL NKX2-5 NKX2-6 NOG NONO NOTCH2 NPAP1 NSD2 OCA2 OCRL ODC1 OFD1 OGT OPHN1 OTUD6B PACS1 PACS2 PAK3 PBX1 PCGF2 PDE4D PDGFRB PGAP3 PHC1 PHIP PIEZO2 PIGG PIGK PIGN PIGQ PIGU PIGV PIK3CD PITX2 PLPBP PMM2 POGZ POLR3A PPM1D PPP1CB PPP1R15B PPP2R3C PPP2R5D PQBP1 PRKACA PRKACB PRKAR1B PRKDC PRMT7 PRORP PSMD12 PTRH2 PUF60 PURA PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB3GAP1 RAD21 RAI1 RALA RHOBTB2 RNF135 RNU4ATAC ROR2 RPL10 RPS23 RUNX2 SASS6 SATB2 SC5D SCN1A SCYL2 SEC23A SETBP1 SETD5 SH3PXD2B SHMT2 SHOC2 SIM1 SIN3A SLC25A24 SLC26A2 SLC2A1 SLC45A1 SLC6A1 SLC9A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SMPD4 SNORD115-1 SNORD116-1 SNRPN SON SOX11 SOX4 SPECC1L SPEN SPOP SPTBN1 SRCAP STAG2 STEEP1 STIL STT3A STXBP1 SYNGAP1 SYT1 TAF1 TAF13 TAF6 TALDO1 TASP1 TBC1D24 TBCE TBL1XR1 TBX1 TCF20 THOC6 THUMPD1 TLK2 TMEM147 TMEM94 TNRC6B TRAPPC10 TRAPPC14 TRAPPC9 TRIO TRIP12 TRMT10A TRPS1 TRRAP TTC5 TTI2 TUBGCP2 TWIST2 TXNL4A UBE2A UBE3B UNC80 USP9X VAC14 VPS35L VPS51 WAC WARS2 WASHC4 WDR19 WDR62 WNT5A XRCC4 XYLT2 ZBTB18 ZFPM2 ZMPSTE24 ZNF292 ZNF407 ZNF526

Diseases (384) :OMIM:619691 OMIM:619719 ORPHA:86818 ORPHA:2995 OMIM:243310 OMIM:614583 OMIM:618862 OMIM:616503 ORPHA:404448 OMIM:615873 OMIM:103050 ORPHA:46 OMIM:619297 ORPHA:444077 OMIM:232400 OMIM:619149 OMIM:608540 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:614008 OMIM:617101 OMIM:618092 ORPHA:261330 OMIM:614856 OMIM:617877 ORPHA:529962 OMIM:617755 OMIM:618056 ORPHA:199 OMIM:620029 OMIM:601005 OMIM:614756 ORPHA:140952 OMIM:300707 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:618929 OMIM:617694 OMIM:617360 OMIM:616579 OMIM:601776 ORPHA:2953 ORPHA:3303 OMIM:272440 ORPHA:3255 OMIM:619517 OMIM:619173 OMIM:615803 OMIM:617854 OMIM:618608 ORPHA:263508 OMIM:611209 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:617976 OMIM:618332 OMIM:180849 OMIM:617062 ORPHA:363611 OMIM:615502 OMIM:615075 ORPHA:404473 OMIM:616459 OMIM:619426 OMIM:602557 OMIM:174300 OMIM:618480 OMIM:615879 OMIM:618027 OMIM:615042 ORPHA:329178 OMIM:180700 OMIM:616331 ORPHA:289 OMIM:614104 OMIM:617330 OMIM:619493 OMIM:619376 OMIM:618333 OMIM:214150 OMIM:619306 OMIM:617763 ORPHA:502 ORPHA:438178 OMIM:616154 OMIM:614185 OMIM:216340 ORPHA:3472 ORPHA:261483 OMIM:613454 OMIM:612938 OMIM:619124 ORPHA:251071 OMIM:615074 ORPHA:363686 OMIM:257850 OMIM:612474 OMIM:610199 OMIM:610015 OMIM:619854 OMIM:619503 ORPHA:3166 OMIM:269921 ORPHA:96182 OMIM:619950 ORPHA:1001 OMIM:300882 ORPHA:3459 OMIM:176270 OMIM:616977 OMIM:618547 ORPHA:94063 ORPHA:238769 OMIM:619194 OMIM:301025 OMIM:309590 OMIM:616007 ORPHA:99646 OMIM:182250 OMIM:617866 ORPHA:73273 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:618109 OMIM:300534 OMIM:152950 ORPHA:261323 OMIM:200990 OMIM:605130 ORPHA:319182 ORPHA:221139 OMIM:613328 OMIM:601559 ORPHA:99812 OMIM:277380 ORPHA:79474 ORPHA:740 ORPHA:495818 ORPHA:1272 OMIM:601088 ORPHA:398069 ORPHA:177901 ORPHA:397941 OMIM:614202 OMIM:618443 OMIM:619869 OMIM:616734 OMIM:156200 ORPHA:1596 OMIM:309520 OMIM:300895 OMIM:618872 OMIM:618009 OMIM:613443 OMIM:600987 OMIM:615942 OMIM:618665 OMIM:212066 OMIM:300000 OMIM:249000 OMIM:614741 OMIM:609180 ORPHA:79323 OMIM:616638 OMIM:619110 ORPHA:1358 OMIM:619941 OMIM:616549 OMIM:300855 OMIM:615419 ORPHA:371364 OMIM:614800 ORPHA:649 OMIM:300912 ORPHA:139474 OMIM:613735 OMIM:122470 OMIM:186500 ORPHA:466791 ORPHA:955 OMIM:619695 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:601812 OMIM:615716 OMIM:617991 ORPHA:589905 OMIM:617146 ORPHA:488635 OMIM:618879 ORPHA:280633 OMIM:614080 OMIM:618548 OMIM:618590 OMIM:239300 OMIM:180500 OMIM:617290 OMIM:212065 ORPHA:79318 ORPHA:468678 OMIM:616364 ORPHA:3455 OMIM:264090 OMIM:617450 ORPHA:2701 OMIM:617506 ORPHA:391408 OMIM:618419 ORPHA:457279 OMIM:309500 OMIM:619680 OMIM:615966 OMIM:617157 ORPHA:464288 OMIM:619737 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:438216 OMIM:614438 ORPHA:481152 OMIM:617982 OMIM:600118 OMIM:614701 ORPHA:477817 OMIM:619311 OMIM:618004 ORPHA:137634 ORPHA:353298 OMIM:616651 OMIM:268310 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:617412 OMIM:156510 ORPHA:251019 ORPHA:576283 OMIM:607330 OMIM:618766 OMIM:607812 ORPHA:50814 OMIM:616078 ORPHA:404440 OMIM:615761 OMIM:249420 OMIM:619121 ORPHA:398079 OMIM:613406 OMIM:612289 ORPHA:56304 OMIM:617532 OMIM:301024 ORPHA:2588 OMIM:139210 OMIM:619293 ORPHA:3051 OMIM:601358 OMIM:618362 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 ORPHA:1106 OMIM:618622 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:618829 OMIM:619475 OMIM:619595 OMIM:136140 OMIM:301022 OMIM:301013 OMIM:619714 ORPHA:544254 OMIM:618218 ORPHA:522077 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:606003 OMIM:618950 OMIM:220500 OMIM:241410 ORPHA:2323 OMIM:602342 ORPHA:487825 OMIM:618430 ORPHA:363444 OMIM:619989 OMIM:618050 OMIM:620075 OMIM:618316 OMIM:619243 ORPHA:352530 OMIM:617061 OMIM:617752 OMIM:190350 OMIM:190351 OMIM:618454 OMIM:619244 ORPHA:391307 OMIM:618737 ORPHA:920 OMIM:209885 OMIM:608572 OMIM:300860 ORPHA:163956 OMIM:244450 ORPHA:2707 OMIM:616801 ORPHA:480880 OMIM:619135 OMIM:618606 OMIM:616708 ORPHA:466950 ORPHA:572798 OMIM:615817 OMIM:614378 OMIM:614376 ORPHA:85194 ORPHA:36367 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.