Human Phenotype Ontology 
Grandparent Node:
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Hypertrichosis (HP:0000998)help
Parent Node:
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Abnormal eyebrow morphology (HP:0000534)help
Parent Node:
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Facial hypertrichosis (HP:0002219)help
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Synophrys (HP:0000664)help
Term ID: 664
Name: Synophrys
Synonym: Monobrow; Synophris; Unibrow
Definition: Meeting of the medial eyebrows in the midline.
Comments:
Reference: HP:0000664
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000664HP:0000664Synophrys0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040283 - Occasional1
HP:0000664HP:0000664Synophrys0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000664HP:0000664Synophrys0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000664HP:0000664Synophrys0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000664HP:0000664Synophrys0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040281 - Very frequent6
HP:0000664HP:0000664Synophrys0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000664HP:0000664Synophrys0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000664HP:0000664Synophrys0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000664HP:0000664Synophrys0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000664HP:0000664Synophrys0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000664HP:0000664Synophrys0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000664HP:0000664Synophrys0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000664HP:0000664Synophrys0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000664HP:0000664Synophrys0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000664HP:0000664Synophrys0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000664HP:0000664Synophrys0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000664HP:0000664Synophrys0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0000664HP:0000664Synophrys0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000664HP:0000664Synophrys0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000664HP:0000664Synophrys0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000664HP:0000664Synophrys0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000664HP:0000664Synophrys0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000664HP:0000664Synophrys0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000664HP:0000664Synophrys0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000664HP:0000664Synophrys0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000664HP:0000664Synophrys0CDC42BPB CL E G H95781738OMIM:619841
HP:0000664HP:0000664Synophrys0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000664HP:0000664Synophrys0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000664HP:0000664Synophrys0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000664HP:0000664Synophrys0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000664HP:0000664Synophrys0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040283 - Occasional405
HP:0000664HP:0000664Synophrys0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0000664HP:0000664Synophrys0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0000664HP:0000664Synophrys0CHD5 CL E G H2603816816OMIM:619873
HP:0000664HP:0000664Synophrys0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000664HP:0000664Synophrys0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0000664HP:0000664Synophrys0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome.16
HP:0000664HP:0000664Synophrys0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000664HP:0000664Synophrys0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000664HP:0000664Synophrys0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000664HP:0000664Synophrys0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000664HP:0000664Synophrys0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0000664HP:0000664Synophrys0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0000664HP:0000664Synophrys0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0000664HP:0000664Synophrys0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000664HP:0000664Synophrys0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000664HP:0000664Synophrys0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000664HP:0000664Synophrys0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000664HP:0000664Synophrys0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000664HP:0000664Synophrys0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent67
HP:0000664HP:0000664Synophrys0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent55
HP:0000664HP:0000664Synophrys0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000664HP:0000664Synophrys0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0000664HP:0000664Synophrys0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000664HP:0000664Synophrys0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0000664HP:0000664Synophrys0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0000664HP:0000664Synophrys0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000664HP:0000664Synophrys0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000664HP:0000664Synophrys0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000664HP:0000664Synophrys0FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent172
HP:0000664HP:0000664Synophrys0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0000664HP:0000664Synophrys0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0000664HP:0000664Synophrys0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000664HP:0000664Synophrys0FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent198
HP:0000664HP:0000664Synophrys0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000664HP:0000664Synophrys0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000664HP:0000664Synophrys0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000664HP:0000664Synophrys0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000664HP:0000664Synophrys0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000664HP:0000664Synophrys0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000664HP:0000664Synophrys0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000664HP:0000664Synophrys0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000664HP:0000664Synophrys0HEATR3 CL E G H5502726087OMIM:620072
HP:0000664HP:0000664Synophrys0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0000664HP:0000664Synophrys0HID1 CL E G H28398715736OMIM:619983
HP:0000664HP:0000664Synophrys0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000664HP:0000664Synophrys0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000664HP:0000664Synophrys0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0000664HP:0000664Synophrys0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000664HP:0000664Synophrys0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000664HP:0000664Synophrys0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000664HP:0000664Synophrys0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000664HP:0000664Synophrys0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000664HP:0000664Synophrys0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000664HP:0000664Synophrys0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000664HP:0000664Synophrys0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000664HP:0000664Synophrys0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000664HP:0000664Synophrys0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial featuresHP:0040283 - Occasional3
HP:0000664HP:0000664Synophrys0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000664HP:0000664Synophrys0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000664HP:0000664Synophrys0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000664HP:0000664Synophrys0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0000664HP:0000664Synophrys0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0000664HP:0000664Synophrys0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000664HP:0000664Synophrys0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0000664HP:0000664Synophrys0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000664HP:0000664Synophrys0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000664HP:0000664Synophrys0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000664HP:0000664Synophrys0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000664HP:0000664Synophrys0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000664HP:0000664Synophrys0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000664HP:0000664Synophrys0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000664HP:0000664Synophrys0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000664HP:0000664Synophrys0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000664HP:0000664Synophrys0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0000664HP:0000664Synophrys0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent91
HP:0000664HP:0000664Synophrys0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0000664HP:0000664Synophrys0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0000664HP:0000664Synophrys0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000664HP:0000664Synophrys0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000664HP:0000664Synophrys0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000664HP:0000664Synophrys0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000664HP:0000664Synophrys0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000664HP:0000664Synophrys0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000664HP:0000664Synophrys0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000664HP:0000664Synophrys0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000664HP:0000664Synophrys0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000664HP:0000664Synophrys0NUDT2 CL E G H3188049OMIM:619844
HP:0000664HP:0000664Synophrys0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000664HP:0000664Synophrys0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000664HP:0000664Synophrys0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000664HP:0000664Synophrys0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000664HP:0000664Synophrys0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040282 - Frequent59
HP:0000664HP:0000664Synophrys0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000664HP:0000664Synophrys0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000664HP:0000664Synophrys0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000664HP:0000664Synophrys0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome.23
HP:0000664HP:0000664Synophrys0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040283 - Occasional23
HP:0000664HP:0000664Synophrys0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000664HP:0000664Synophrys0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000664HP:0000664Synophrys0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000664HP:0000664Synophrys0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000664HP:0000664Synophrys0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000664HP:0000664Synophrys0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000664HP:0000664Synophrys0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000664HP:0000664Synophrys0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000664HP:0000664Synophrys0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000664HP:0000664Synophrys0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000664HP:0000664Synophrys0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000664HP:0000664Synophrys0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000664HP:0000664Synophrys0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000664HP:0000664Synophrys0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000664HP:0000664Synophrys0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000664HP:0000664Synophrys0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000664HP:0000664Synophrys0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000664HP:0000664Synophrys0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000664HP:0000664Synophrys0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0000664HP:0000664Synophrys0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000664HP:0000664Synophrys0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000664HP:0000664Synophrys0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000664HP:0000664Synophrys0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000664HP:0000664Synophrys0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0000664HP:0000664Synophrys0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000664HP:0000664Synophrys0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000664HP:0000664Synophrys0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000664HP:0000664Synophrys0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndromeHP:0040283 - Occasional174
HP:0000664HP:0000664Synophrys0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000664HP:0000664Synophrys0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000664HP:0000664Synophrys0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0000664HP:0000664Synophrys0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent61
HP:0000664HP:0000664Synophrys0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000664HP:0000664Synophrys0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000664HP:0000664Synophrys0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000664HP:0000664Synophrys0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0000664HP:0000664Synophrys0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000664HP:0000664Synophrys0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0000664HP:0000664Synophrys0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000664HP:0000664Synophrys0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0000664HP:0000664Synophrys0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000664HP:0000664Synophrys0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000664HP:0000664Synophrys0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000664HP:0000664Synophrys0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000664HP:0000664Synophrys0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040282 - Frequent6
HP:0000664HP:0000664Synophrys0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000664HP:0000664Synophrys0TMEM147 CL E G H1043030414OMIM:620075
HP:0000664HP:0000664Synophrys0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000664HP:0000664Synophrys0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000664HP:0000664Synophrys0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000664HP:0000664Synophrys0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000664HP:0000664Synophrys0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13HP:0040283 - Occasional158
HP:0000664HP:0000664Synophrys0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000664HP:0000664Synophrys0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000664HP:0000664Synophrys0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0000664HP:0000664Synophrys0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0000664HP:0000664Synophrys0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000664HP:0000664Synophrys0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000664HP:0000664Synophrys0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000664HP:0000664Synophrys0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000664HP:0000664Synophrys0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000664HP:0000664Synophrys0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000664HP:0000664Synophrys0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000664HP:0000664Synophrys0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000664HP:0000664Synophrys0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000664HP:0000664Synophrys0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000664HP:0000664Synophrys0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000664HP:0000664Synophrys0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000664HP:0000664Synophrys0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000664HP:0000664Synophrys0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0000664HP:0000664Synophrys0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0000664HP:0000664Synophrys0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0000664HP:0000664Synophrys0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0000664HP:0000664Synophrys0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0000664HP:0000664Synophrys0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000664HP:0000664Synophrys0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000664HP:0000664Synophrys0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000664HP:0000664Synophrys0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000664HP:0000664Synophrys0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000664HP:0000664Synophrys0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734


Genes (172) :ABCA5 ADAT3 AFF3 AFF4 AIP AMMECR1 ANKRD11 ARL3 ARX ASH1L ASXL1 ASXL2 ASXL3 ATP6V1B2 BCAS3 BICRA BMP2 BPTF BRD4 CCDC47 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDKL5 CDON CERT1 CHD5 CHMP1A CHRNA7 CHSY1 CLCN3 COX5A CSNK2A1 CTCF CUL4B CWF19L1 DDB1 DEAF1 DHX30 DOCK7 EBF3 EDN3 EDNRB EHMT1 EMC10 ERLIN2 FBXO28 FBXO31 FGF3 FGFR1 FHL1 FLII FREM1 GJA5 GJA8 GNB2 GNE GNS GPR101 HDAC8 HEATR3 HGSNAT HID1 HIVEP2 HMGA2 HNRNPU HSPA9 IGF1R IL1RAPL1 IQSEC2 KATNB1 KCNH1 KCNK4 KCNMA1 KCNN3 KDM1A KDM4B KIFBP KIT KLF13 KMT2A KNL1 LEMD3 MAB21L1 MAP1B MAPK8IP3 MAPRE2 MBD5 MED13 MED27 MITF NAGLU NANS NDST1 NECTIN1 NFIX NIPBL NMNAT1 NOTCH2 NSUN2 NUDT2 OGT PACS1 PACS2 PAX3 PCDHGC4 PHF8 PHIP PIGN POLR3A PPP1R15B PRKG2 PRR12 PSMC3 PSMD12 RAC1 RAD21 RAI1 RPS23 RUSC2 SETBP1 SETD5 SGSH SLC1A4 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SMS SNAI2 SOX10 SPEN SPOP SPTBN1 STAG1 TAF1 TAF6 TALDO1 TASP1 TBCD TBCK TFE3 TMCO1 TMEM147 TMEM94 TOE1 TRAPPC10 TRAPPC9 TRIM8 TRIO TRMT1 TRMT10A TTI2 TUBGCP2 UBE2A UGDH UGP2 UQCC2 VPS33A WAC WNT4 XYLT1 ZBTB20 ZIC2 ZMYND11 ZNF292 ZNF407 ZNF699 ZNF711

Diseases (189) :ORPHA:2026 ORPHA:363528 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:963 OMIM:300990 ORPHA:2332 OMIM:148050 OMIM:618161 OMIM:300004 OMIM:617796 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 OMIM:616455 OMIM:619641 OMIM:619325 OMIM:617877 ORPHA:529962 ORPHA:199 OMIM:618268 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:1299 OMIM:211380 OMIM:618929 OMIM:617694 ORPHA:505652 OMIM:614226 OMIM:616351 OMIM:619873 OMIM:614961 OMIM:612001 OMIM:605282 OMIM:619512 OMIM:619064 OMIM:617062 ORPHA:363611 ORPHA:85293 ORPHA:453521 OMIM:616127 OMIM:619426 ORPHA:819 OMIM:617804 ORPHA:411986 OMIM:617330 ORPHA:897 OMIM:610253 ORPHA:96147 OMIM:619264 ORPHA:209951 ORPHA:280384 OMIM:619777 OMIM:615979 ORPHA:90024 ORPHA:3366 OMIM:190440 OMIM:300280 OMIM:612474 OMIM:619503 OMIM:269921 OMIM:252940 OMIM:300882 OMIM:620072 OMIM:252930 OMIM:619983 OMIM:616977 ORPHA:94063 ORPHA:238769 OMIM:616854 OMIM:270450 OMIM:300143 OMIM:616212 OMIM:135500 OMIM:618381 OMIM:618729 OMIM:618658 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:609460 ORPHA:2884 OMIM:605130 ORPHA:319182 OMIM:604321 OMIM:618479 OMIM:618918 OMIM:618443 OMIM:616734 ORPHA:228402 OMIM:618009 OMIM:619286 OMIM:193510 OMIM:252920 OMIM:610442 OMIM:616116 ORPHA:3253 OMIM:602535 OMIM:122470 OMIM:619260 ORPHA:955 OMIM:102500 OMIM:611091 OMIM:619844 OMIM:300997 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:619880 OMIM:300263 ORPHA:85287 OMIM:617991 ORPHA:589905 ORPHA:280633 ORPHA:3455 ORPHA:391408 OMIM:619636 OMIM:619539 OMIM:619354 OMIM:617751 OMIM:614701 OMIM:182290 OMIM:617412 OMIM:617773 OMIM:616078 OMIM:615761 OMIM:252900 ORPHA:447997 OMIM:612289 OMIM:619293 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:309583 ORPHA:3063 OMIM:619312 OMIM:618828 OMIM:619475 ORPHA:502434 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:606003 OMIM:618950 OMIM:617193 ORPHA:488632 OMIM:301066 ORPHA:1394 OMIM:213980 OMIM:620075 OMIM:618316 OMIM:614969 OMIM:620027 ORPHA:352530 OMIM:613192 OMIM:619428 OMIM:617061 ORPHA:476126 OMIM:618302 OMIM:615541 ORPHA:391307 OMIM:618737 OMIM:300860 ORPHA:163956 OMIM:618792 OMIM:618744 OMIM:615824 OMIM:617303 OMIM:616708 ORPHA:284169 ORPHA:466950 ORPHA:247768 OMIM:615777 ORPHA:370930 ORPHA:3042 OMIM:259050 OMIM:609637 OMIM:616083 OMIM:619188 OMIM:619557 OMIM:619488 OMIM:300803
 

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