Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal palate morphology (HP:0000174)help
..Starting node
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High palate (HP:0000218)help
Term ID: 218
Name: High palate
Synonym: Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Ogival palate; Palate high-arched; Palate, high-arched
Definition: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Comments:
Reference: HP:0000218
Genes and Diseases:
 
       Child Nodes:
........expandHigh, narrow palate (HP:0002705) help

 Sister Nodes: 
..expandAbnormal hard palate morphology (HP:0100737) help
..expandAbnormal soft palate morphology (HP:0100736) help
..expandNarrow palate (HP:0000189) help
..expandPalatal edema (HP:0031089) help
..expandPalate fistula (HP:0010294) help
..expandPalate telangiectasia (HP:0002707) help
..expandProminent median palatal raphe (HP:0002708) help
..expandProminent palatine ridges (HP:0010291) 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:0000218HP:0000218High palate0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0000218HP:0000218High palate0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0000218HP:0000218High palate0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000218HP:0000218High palate0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000218HP:0000218High palate0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000218HP:0000218High palate0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0000218HP:0000218High palate0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0000218HP:0000218High palate0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000218HP:0000218High palate0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0000218HP:0000218High palate0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0000218HP:0000218High palate0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0000218HP:0000218High palate0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0000218HP:0000218High palate0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000218HP:0000218High palate0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0000218HP:0000218High palate0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000218HP:0000218High palate0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000218HP:0000218High palate0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000218HP:0000218High palate0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000218HP:0000218High palate0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000218HP:0000218High palate0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000218HP:0000218High palate0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8HP:0040283 - Occasional127
HP:0000218HP:0000218High palate0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0000218HP:0000218High palate0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0000218HP:0000218High palate0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0000218HP:0000218High palate0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0000218HP:0000218High palate0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0000218HP:0000218High palate0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0000218HP:0000218High palate0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0000218HP:0000218High palate0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000218HP:0000218High palate0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0000218HP:0000218High palate0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0000218HP:0000218High palate0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0000218HP:0000218High palate0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000218HP:0000218High palate0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000218HP:0000218High palate0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0000218HP:0000218High palate0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000218HP:0000218High palate0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040282 - Frequent150
HP:0000218HP:0000218High palate0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0000218HP:0000218High palate0ANO1 CL E G H5510721625OMIM:620045
HP:0000218HP:0000218High palate0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0000218HP:0000218High palate0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0000218HP:0000218High palate0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000218HP:0000218High palate0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0000218HP:0000218High palate0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0000218HP:0000218High palate0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessiveHP:0040283 - Occasional49
HP:0000218HP:0000218High palate0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0000218HP:0000218High palate0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0000218HP:0000218High palate0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000218HP:0000218High palate0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0000218HP:0000218High palate0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000218HP:0000218High palate0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0000218HP:0000218High palate0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0000218HP:0000218High palate0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000218HP:0000218High palate0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000218HP:0000218High palate0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000218HP:0000218High palate0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0000218HP:0000218High palate0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000218HP:0000218High palate0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000218HP:0000218High palate0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000218HP:0000218High palate0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000218HP:0000218High palate0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0000218HP:0000218High palate0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000218HP:0000218High palate0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000218HP:0000218High palate0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000218HP:0000218High palate0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000218HP:0000218High palate0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0000218HP:0000218High palate0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000218HP:0000218High palate0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000218HP:0000218High palate0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000218HP:0000218High palate0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0000218HP:0000218High palate0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000218HP:0000218High palate0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000218HP:0000218High palate0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000218HP:0000218High palate0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000218HP:0000218High palate0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0000218HP:0000218High palate0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000218HP:0000218High palate0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000218HP:0000218High palate0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000218HP:0000218High palate0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0000218HP:0000218High palate0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0000218HP:0000218High palate0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000218HP:0000218High palate0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000218HP:0000218High palate0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000218HP:0000218High palate0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000218HP:0000218High palate0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000218HP:0000218High palate0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0000218HP:0000218High palate0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0000218HP:0000218High palate0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional4
HP:0000218HP:0000218High palate0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000218HP:0000218High palate0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000218HP:0000218High palate0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0000218HP:0000218High palate0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000218HP:0000218High palate0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0000218HP:0000218High palate0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000218HP:0000218High palate0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000218HP:0000218High palate0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000218HP:0000218High palate0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000218HP:0000218High palate0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000218HP:0000218High palate0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000218HP:0000218High palate0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000218HP:0000218High palate0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000218HP:0000218High palate0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000218HP:0000218High palate0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000218HP:0000218High palate0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000218HP:0000218High palate0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0000218HP:0000218High palate0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000218HP:0000218High palate0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0000218HP:0000218High palate0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000218HP:0000218High palate0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000218HP:0000218High palate0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000218HP:0000218High palate0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000218HP:0000218High palate0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional9
HP:0000218HP:0000218High palate0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional6
HP:0000218HP:0000218High palate0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000218HP:0000218High palate0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000218HP:0000218High palate0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0000218HP:0000218High palate0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000218HP:0000218High palate0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0000218HP:0000218High palate0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000218HP:0000218High palate0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000218HP:0000218High palate0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000218HP:0000218High palate0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000218HP:0000218High palate0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000218HP:0000218High palate0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000218HP:0000218High palate0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000218HP:0000218High palate0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000218HP:0000218High palate0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000218HP:0000218High palate0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0000218HP:0000218High palate0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0000218HP:0000218High palate0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 7.35
HP:0000218HP:0000218High palate0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0000218HP:0000218High palate0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000218HP:0000218High palate0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0000218HP:0000218High palate0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0000218HP:0000218High palate0CHKA CL E G H11191937OMIM:620023
HP:0000218HP:0000218High palate0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channelHP:0040283 - Occasional74
HP:0000218HP:0000218High palate0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000218HP:0000218High palate0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0000218HP:0000218High palate0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000218HP:0000218High palate0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0000218HP:0000218High palate0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0000218HP:0000218High palate0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0000218HP:0000218High palate0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0000218HP:0000218High palate0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000218HP:0000218High palate0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0000218HP:0000218High palate0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000218HP:0000218High palate0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000218HP:0000218High palate0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000218HP:0000218High palate0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000218HP:0000218High palate0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0000218HP:0000218High palate0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0000218HP:0000218High palate0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040282 - Frequent6
HP:0000218HP:0000218High palate0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000218HP:0000218High palate0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000218HP:0000218High palate0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000218HP:0000218High palate0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000218HP:0000218High palate0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0000218HP:0000218High palate0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000218HP:0000218High palate0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0000218HP:0000218High palate0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000218HP:0000218High palate0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000218HP:0000218High palate0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040283 - Occasional215
HP:0000218HP:0000218High palate0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000218HP:0000218High palate0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0000218HP:0000218High palate0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0000218HP:0000218High palate0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0000218HP:0000218High palate0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0000218HP:0000218High palate0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0000218HP:0000218High palate0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0000218HP:0000218High palate0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0000218HP:0000218High palate0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000218HP:0000218High palate0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000218HP:0000218High palate0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000218HP:0000218High palate0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000218HP:0000218High palate0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000218HP:0000218High palate0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0000218HP:0000218High palate0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000218HP:0000218High palate0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0000218HP:0000218High palate0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000218HP:0000218High palate0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000218HP:0000218High palate0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000218HP:0000218High palate0CPSF3 CL E G H516922326OMIM:619876
HP:0000218HP:0000218High palate0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0000218HP:0000218High palate0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0000218HP:0000218High palate0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000218HP:0000218High palate0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000218HP:0000218High palate0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0000218HP:0000218High palate0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000218HP:0000218High palate0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040282 - Frequent24
HP:0000218HP:0000218High palate0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000218HP:0000218High palate0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000218HP:0000218High palate0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.2
HP:0000218HP:0000218High palate0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000218HP:0000218High palate0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040282 - Frequent15
HP:0000218HP:0000218High palate0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000218HP:0000218High palate0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000218HP:0000218High palate0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0000218HP:0000218High palate0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0000218HP:0000218High palate0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000218HP:0000218High palate0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040283 - Occasional29
HP:0000218HP:0000218High palate0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessiveHP:0040283 - Occasional29
HP:0000218HP:0000218High palate0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0000218HP:0000218High palate0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000218HP:0000218High palate0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000218HP:0000218High palate0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000218HP:0000218High palate0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000218HP:0000218High palate0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000218HP:0000218High palate0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0000218HP:0000218High palate0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000218HP:0000218High palate0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0000218HP:0000218High palate0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000218HP:0000218High palate0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000218HP:0000218High palate0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000218HP:0000218High palate0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000218HP:0000218High palate0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000218HP:0000218High palate0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000218HP:0000218High palate0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0000218HP:0000218High palate0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0000218HP:0000218High palate0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0000218HP:0000218High palate0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0000218HP:0000218High palate0DPH5 CL E G H5161124270OMIM:620070
HP:0000218HP:0000218High palate0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0000218HP:0000218High palate0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0000218HP:0000218High palate0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0000218HP:0000218High palate0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0000218HP:0000218High palate0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000218HP:0000218High palate0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000218HP:0000218High palate0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000218HP:0000218High palate0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000218HP:0000218High palate0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VIHP:0040283 - Occasional108
HP:0000218HP:0000218High palate0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000218HP:0000218High palate0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000218HP:0000218High palate0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000218HP:0000218High palate0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000218HP:0000218High palate0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0000218HP:0000218High palate0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000218HP:0000218High palate0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040282 - Frequent14
HP:0000218HP:0000218High palate0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000218HP:0000218High palate0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0000218HP:0000218High palate0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0000218HP:0000218High palate0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0000218HP:0000218High palate0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0000218HP:0000218High palate0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000218HP:0000218High palate0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000218HP:0000218High palate0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0000218HP:0000218High palate0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0000218HP:0000218High palate0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000218HP:0000218High palate0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000218HP:0000218High palate0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040281 - Very frequent250
HP:0000218HP:0000218High palate0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040282 - Frequent40
HP:0000218HP:0000218High palate0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000218HP:0000218High palate0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000218HP:0000218High palate0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000218HP:0000218High palate0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000218HP:0000218High palate0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0000218HP:0000218High palate0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0000218HP:0000218High palate0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0000218HP:0000218High palate0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0000218HP:0000218High palate0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0000218HP:0000218High palate0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000218HP:0000218High palate0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000218HP:0000218High palate0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0000218HP:0000218High palate0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000218HP:0000218High palate0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000218HP:0000218High palate0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0000218HP:0000218High palate0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000218HP:0000218High palate0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000218HP:0000218High palate0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000218HP:0000218High palate0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000218HP:0000218High palate0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000218HP:0000218High palate0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000218HP:0000218High palate0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000218HP:0000218High palate0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000218HP:0000218High palate0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000218HP:0000218High palate0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000218HP:0000218High palate0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000218HP:0000218High palate0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000218HP:0000218High palate0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0000218HP:0000218High palate0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000218HP:0000218High palate0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0000218HP:0000218High palate0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000218HP:0000218High palate0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000218HP:0000218High palate0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000218HP:0000218High palate0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0000218HP:0000218High palate0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000218HP:0000218High palate0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040281 - Very frequent655
HP:0000218HP:0000218High palate0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0000218HP:0000218High palate0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000218HP:0000218High palate0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000218HP:0000218High palate0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000218HP:0000218High palate0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia.17
HP:0000218HP:0000218High palate0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000218HP:0000218High palate0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000218HP:0000218High palate0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000218HP:0000218High palate0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000218HP:0000218High palate0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000218HP:0000218High palate0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000218HP:0000218High palate0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0000218HP:0000218High palate0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000218HP:0000218High palate0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000218HP:0000218High palate0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040282 - Frequent175
HP:0000218HP:0000218High palate0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000218HP:0000218High palate0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0000218HP:0000218High palate0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0000218HP:0000218High palate0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0000218HP:0000218High palate0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndromeHP:0040283 - Occasional145
HP:0000218HP:0000218High palate0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000218HP:0000218High palate0FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0000218HP:0000218High palate0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0000218HP:0000218High palate0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000218HP:0000218High palate0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000218HP:0000218High palate0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0000218HP:0000218High palate0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000218HP:0000218High palate0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0000218HP:0000218High palate0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0000218HP:0000218High palate0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0000218HP:0000218High palate0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000218HP:0000218High palate0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000218HP:0000218High palate0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000218HP:0000218High palate0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000218HP:0000218High palate0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000218HP:0000218High palate0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0000218HP:0000218High palate0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0000218HP:0000218High palate0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0000218HP:0000218High palate0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000218HP:0000218High palate0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000218HP:0000218High palate0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000218HP:0000218High palate0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000218HP:0000218High palate0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000218HP:0000218High palate0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000218HP:0000218High palate0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000218HP:0000218High palate0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000218HP:0000218High palate0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0000218HP:0000218High palate0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000218HP:0000218High palate0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000218HP:0000218High palate0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0000218HP:0000218High palate0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0000218HP:0000218High palate0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0000218HP:0000218High palate0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000218HP:0000218High palate0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0000218HP:0000218High palate0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000218HP:0000218High palate0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000218HP:0000218High palate0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000218HP:0000218High palate0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000218HP:0000218High palate0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000218HP:0000218High palate0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000218HP:0000218High palate0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000218HP:0000218High palate0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0000218HP:0000218High palate0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000218HP:0000218High palate0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000218HP:0000218High palate0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000218HP:0000218High palate0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000218HP:0000218High palate0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000218HP:0000218High palate0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0000218HP:0000218High palate0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000218HP:0000218High palate0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000218HP:0000218High palate0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0000218HP:0000218High palate0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000218HP:0000218High palate0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0000218HP:0000218High palate0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0000218HP:0000218High palate0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000218HP:0000218High palate0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000218HP:0000218High palate0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0000218HP:0000218High palate0H4C5 CL E G H83674790OMIM:619950
HP:0000218HP:0000218High palate0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0000218HP:0000218High palate0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000218HP:0000218High palate0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000218HP:0000218High palate0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000218HP:0000218High palate0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000218HP:0000218High palate0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000218HP:0000218High palate0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000218HP:0000218High palate0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000218HP:0000218High palate0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0000218HP:0000218High palate0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000218HP:0000218High palate0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000218HP:0000218High palate0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000218HP:0000218High palate0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000218HP:0000218High palate0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000218HP:0000218High palate0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000218HP:0000218High palate0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0000218HP:0000218High palate0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000218HP:0000218High palate0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000218HP:0000218High palate0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000218HP:0000218High palate0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000218HP:0000218High palate0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000218HP:0000218High palate0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1.98
HP:0000218HP:0000218High palate0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000218HP:0000218High palate0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000218HP:0000218High palate0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0000218HP:0000218High palate0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000218HP:0000218High palate0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000218HP:0000218High palate0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0000218HP:0000218High palate0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0000218HP:0000218High palate0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0000218HP:0000218High palate0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000218HP:0000218High palate0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000218HP:0000218High palate0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040282 - Frequent5
HP:0000218HP:0000218High palate0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000218HP:0000218High palate0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000218HP:0000218High palate0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0000218HP:0000218High palate0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional7
HP:0000218HP:0000218High palate0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000218HP:0000218High palate0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0000218HP:0000218High palate0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000218HP:0000218High palate0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000218HP:0000218High palate0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000218HP:0000218High palate0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000218HP:0000218High palate0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent
HP:0000218HP:0000218High palate0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000218HP:0000218High palate0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000218HP:0000218High palate0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0000218HP:0000218High palate0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000218HP:0000218High palate0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000218HP:0000218High palate0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0000218HP:0000218High palate0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000218HP:0000218High palate0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000218HP:0000218High palate0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000218HP:0000218High palate0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000218HP:0000218High palate0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000218HP:0000218High palate0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0000218HP:0000218High palate0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000218HP:0000218High palate0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0000218HP:0000218High palate0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000218HP:0000218High palate0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000218HP:0000218High palate0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000218HP:0000218High palate0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0000218HP:0000218High palate0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0000218HP:0000218High palate0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000218HP:0000218High palate0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000218HP:0000218High palate0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000218HP:0000218High palate0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000218HP:0000218High palate0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000218HP:0000218High palate0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000218HP:0000218High palate0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0000218HP:0000218High palate0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0000218HP:0000218High palate0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0000218HP:0000218High palate0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0000218HP:0000218High palate0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000218HP:0000218High palate0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0000218HP:0000218High palate0KMT2B CL E G H975715840OMIM:61993411
HP:0000218HP:0000218High palate0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0000218HP:0000218High palate0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000218HP:0000218High palate0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000218HP:0000218High palate0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0000218HP:0000218High palate0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000218HP:0000218High palate0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0000218HP:0000218High palate0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000218HP:0000218High palate0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000218HP:0000218High palate0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0000218HP:0000218High palate0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0000218HP:0000218High palate0LETM1 CL E G H39546556OMIM:6200892
HP:0000218HP:0000218High palate0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000218HP:0000218High palate0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0000218HP:0000218High palate0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0000218HP:0000218High palate0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0000218HP:0000218High palate0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0000218HP:0000218High palate0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional645
HP:0000218HP:0000218High palate0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0000218HP:0000218High palate0LOX CL E G H40156664OMIM:617168Aortic aneurysm, familial thoracic 10HP:0040283 - Occasional6
HP:0000218HP:0000218High palate0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection6
HP:0000218HP:0000218High palate0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0000218HP:0000218High palate0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0000218HP:0000218High palate0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0000218HP:0000218High palate0LRRC8A CL E G H5626219027OMIM:613506Agammaglobulinemia 5, autosomal dominant.3
HP:0000218HP:0000218High palate0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000218HP:0000218High palate0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaHP:0040283 - Occasional123
HP:0000218HP:0000218High palate0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000218HP:0000218High palate0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000218HP:0000218High palate0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000218HP:0000218High palate0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000218HP:0000218High palate0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000218HP:0000218High palate0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040283 - Occasional5
HP:0000218HP:0000218High palate0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000218HP:0000218High palate0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000218HP:0000218High palate0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000218HP:0000218High palate0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000218HP:0000218High palate0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000218HP:0000218High palate0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0000218HP:0000218High palate0MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndrome11
HP:0000218HP:0000218High palate0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000218HP:0000218High palate0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000218HP:0000218High palate0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000218HP:0000218High palate0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000218HP:0000218High palate0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0000218HP:0000218High palate0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000218HP:0000218High palate0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection13
HP:0000218HP:0000218High palate0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0000218HP:0000218High palate0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000218HP:0000218High palate0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0000218HP:0000218High palate0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000218HP:0000218High palate0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent228
HP:0000218HP:0000218High palate0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000218HP:0000218High palate0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000218HP:0000218High palate0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000218HP:0000218High palate0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000218HP:0000218High palate0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0000218HP:0000218High palate0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000218HP:0000218High palate0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0000218HP:0000218High palate0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000218HP:0000218High palate0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000218HP:0000218High palate0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0000218HP:0000218High palate0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection11
HP:0000218HP:0000218High palate0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0000218HP:0000218High palate0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000218HP:0000218High palate0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0000218HP:0000218High palate0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0000218HP:0000218High palate0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000218HP:0000218High palate0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0000218HP:0000218High palate0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0000218HP:0000218High palate0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000218HP:0000218High palate0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000218HP:0000218High palate0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0000218HP:0000218High palate0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0000218HP:0000218High palate0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000218HP:0000218High palate0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000218HP:0000218High palate0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0000218HP:0000218High palate0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040283 - Occasional185
HP:0000218HP:0000218High palate0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000218HP:0000218High palate0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional
HP:0000218HP:0000218High palate0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000218HP:0000218High palate0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0000218HP:0000218High palate0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0000218HP:0000218High palate0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0000218HP:0000218High palate0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection418
HP:0000218HP:0000218High palate0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia.105
HP:0000218HP:0000218High palate0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000218HP:0000218High palate0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000218HP:0000218High palate0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0000218HP:0000218High palate0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0000218HP:0000218High palate0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0000218HP:0000218High palate0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000218HP:0000218High palate0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0000218HP:0000218High palate0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessiveHP:0040283 - Occasional1269
HP:0000218HP:0000218High palate0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0000218HP:0000218High palate0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000218HP:0000218High palate0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0000218HP:0000218High palate0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection326
HP:0000218HP:0000218High palate0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent5
HP:0000218HP:0000218High palate0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0000218HP:0000218High palate0MYMX CL E G H10192972652391OMIM:619941
HP:0000218HP:0000218High palate0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent
HP:0000218HP:0000218High palate0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000218HP:0000218High palate0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0000218HP:0000218High palate0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000218HP:0000218High palate0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040282 - Frequent217
HP:0000218HP:0000218High palate0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000218HP:0000218High palate0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive.217
HP:0000218HP:0000218High palate0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000218HP:0000218High palate0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000218HP:0000218High palate0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0000218HP:0000218High palate0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0000218HP:0000218High palate0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000218HP:0000218High palate0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000218HP:0000218High palate0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0000218HP:0000218High palate0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000218HP:0000218High palate0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0000218HP:0000218High palate0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0000218HP:0000218High palate0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0000218HP:0000218High palate0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0000218HP:0000218High palate0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0000218HP:0000218High palate0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0000218HP:0000218High palate0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000218HP:0000218High palate0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000218HP:0000218High palate0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0000218HP:0000218High palate0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000218HP:0000218High palate0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000218HP:0000218High palate0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000218HP:0000218High palate0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000218HP:0000218High palate0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0000218HP:0000218High palate0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000218HP:0000218High palate0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000218HP:0000218High palate0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000218HP:0000218High palate0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000218HP:0000218High palate0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000218HP:0000218High palate0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0000218HP:0000218High palate0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000218HP:0000218High palate0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0000218HP:0000218High palate0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000218HP:0000218High palate0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000218HP:0000218High palate0NRCAM CL E G H48977994OMIM:6198332
HP:0000218HP:0000218High palate0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000218HP:0000218High palate0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000218HP:0000218High palate0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000218HP:0000218High palate0NSRP1 CL E G H8408125305OMIM:620001
HP:0000218HP:0000218High palate0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0000218HP:0000218High palate0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 7.5
HP:0000218HP:0000218High palate0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0000218HP:0000218High palate0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000218HP:0000218High palate0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0000218HP:0000218High palate0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2.143
HP:0000218HP:0000218High palate0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0000218HP:0000218High palate0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000218HP:0000218High palate0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000218HP:0000218High palate0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040281 - Very frequent201
HP:0000218HP:0000218High palate0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000218HP:0000218High palate0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000218HP:0000218High palate0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000218HP:0000218High palate0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0000218HP:0000218High palate0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000218HP:0000218High palate0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0000218HP:0000218High palate0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0000218HP:0000218High palate0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000218HP:0000218High palate0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000218HP:0000218High palate0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0000218HP:0000218High palate0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0000218HP:0000218High palate0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040283 - Occasional641
HP:0000218HP:0000218High palate0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000218HP:0000218High palate0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000218HP:0000218High palate0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0000218HP:0000218High palate0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000218HP:0000218High palate0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000218HP:0000218High palate0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000218HP:0000218High palate0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000218HP:0000218High palate0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000218HP:0000218High palate0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0000218HP:0000218High palate0PDZD8 CL E G H11898726974OMIM:620021
HP:0000218HP:0000218High palate0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000218HP:0000218High palate0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000218HP:0000218High palate0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000218HP:0000218High palate0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000218HP:0000218High palate0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000218HP:0000218High palate0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000218HP:0000218High palate0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000218HP:0000218High palate0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000218HP:0000218High palate0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000218HP:0000218High palate0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000218HP:0000218High palate0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000218HP:0000218High palate0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0000218HP:0000218High palate0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000218HP:0000218High palate0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0000218HP:0000218High palate0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000218HP:0000218High palate0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000218HP:0000218High palate0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000218HP:0000218High palate0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000218HP:0000218High palate0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000218HP:0000218High palate0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000218HP:0000218High palate0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 23.15
HP:0000218HP:0000218High palate0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0000218HP:0000218High palate0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000218HP:0000218High palate0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000218HP:0000218High palate0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0000218HP:0000218High palate0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0000218HP:0000218High palate0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040282 - Frequent77
HP:0000218HP:0000218High palate0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000218HP:0000218High palate0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000218HP:0000218High palate0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000218HP:0000218High palate0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0000218HP:0000218High palate0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000218HP:0000218High palate0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000218HP:0000218High palate0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0000218HP:0000218High palate0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000218HP:0000218High palate0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000218HP:0000218High palate0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000218HP:0000218High palate0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000218HP:0000218High palate0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000218HP:0000218High palate0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000218HP:0000218High palate0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000218HP:0000218High palate0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 6.2
HP:0000218HP:0000218High palate0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0000218HP:0000218High palate0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0000218HP:0000218High palate0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional43
HP:0000218HP:0000218High palate0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0000218HP:0000218High palate0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000218HP:0000218High palate0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000218HP:0000218High palate0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0000218HP:0000218High palate0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0000218HP:0000218High palate0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040281 - Very frequent150
HP:0000218HP:0000218High palate0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000218HP:0000218High palate0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000218HP:0000218High palate0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000218HP:0000218High palate0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000218HP:0000218High palate0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000218HP:0000218High palate0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000218HP:0000218High palate0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000218HP:0000218High palate0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000218HP:0000218High palate0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000218HP:0000218High palate0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000218HP:0000218High palate0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000218HP:0000218High palate0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000218HP:0000218High palate0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000218HP:0000218High palate0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection41
HP:0000218HP:0000218High palate0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000218HP:0000218High palate0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000218HP:0000218High palate0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0000218HP:0000218High palate0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000218HP:0000218High palate0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0000218HP:0000218High palate0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000218HP:0000218High palate0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000218HP:0000218High palate0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0000218HP:0000218High palate0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0000218HP:0000218High palate0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0000218HP:0000218High palate0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0000218HP:0000218High palate0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000218HP:0000218High palate0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000218HP:0000218High palate0PTPN14 CL E G H57849647OMIM:613611Choanal atresia and lymphedema.1
HP:0000218HP:0000218High palate0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0000218HP:0000218High palate0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0000218HP:0000218High palate0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000218HP:0000218High palate0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000218HP:0000218High palate0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent57
HP:0000218HP:0000218High palate0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0000218HP:0000218High palate0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000218HP:0000218High palate0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0000218HP:0000218High palate0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000218HP:0000218High palate0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000218HP:0000218High palate0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000218HP:0000218High palate0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0000218HP:0000218High palate0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000218HP:0000218High palate0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0000218HP:0000218High palate0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0000218HP:0000218High palate0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0000218HP:0000218High palate0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0000218HP:0000218High palate0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0000218HP:0000218High palate0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000218HP:0000218High palate0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000218HP:0000218High palate0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000218HP:0000218High palate0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000218HP:0000218High palate0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000218HP:0000218High palate0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0000218HP:0000218High palate0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0000218HP:0000218High palate0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000218HP:0000218High palate0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0000218HP:0000218High palate0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000218HP:0000218High palate0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040282 - Frequent445
HP:0000218HP:0000218High palate0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000218HP:0000218High palate0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000218HP:0000218High palate0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000218HP:0000218High palate0REEP1 CL E G H6505525786OMIM:62001187
HP:0000218HP:0000218High palate0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000218HP:0000218High palate0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0000218HP:0000218High palate0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000218HP:0000218High palate0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000218HP:0000218High palate0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0000218HP:0000218High palate0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0000218HP:0000218High palate0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000218HP:0000218High palate0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0000218HP:0000218High palate0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0000218HP:0000218High palate0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000218HP:0000218High palate0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000218HP:0000218High palate0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000218HP:0000218High palate0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000218HP:0000218High palate0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0000218HP:0000218High palate0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0000218HP:0000218High palate0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0000218HP:0000218High palate0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000218HP:0000218High palate0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0000218HP:0000218High palate0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0000218HP:0000218High palate0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000218HP:0000218High palate0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000218HP:0000218High palate0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000218HP:0000218High palate0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0000218HP:0000218High palate0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000218HP:0000218High palate0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000218HP:0000218High palate0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0000218HP:0000218High palate0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0000218HP:0000218High palate0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000218HP:0000218High palate0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000218HP:0000218High palate0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0000218HP:0000218High palate0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000218HP:0000218High palate0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000218HP:0000218High palate0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000218HP:0000218High palate0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000218HP:0000218High palate0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000218HP:0000218High palate0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0000218HP:0000218High palate0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0000218HP:0000218High palate0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000218HP:0000218High palate0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0000218HP:0000218High palate0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000218HP:0000218High palate0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000218HP:0000218High palate0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0000218HP:0000218High palate0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000218HP:0000218High palate0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000218HP:0000218High palate0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000218HP:0000218High palate0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16HP:0040283 - Occasional263
HP:0000218HP:0000218High palate0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0000218HP:0000218High palate0SCNM1 CL E G H7900523136OMIM:620107
HP:0000218HP:0000218High palate0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0000218HP:0000218High palate0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0000218HP:0000218High palate0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0000218HP:0000218High palate0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0000218HP:0000218High palate0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000218HP:0000218High palate0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0000218HP:0000218High palate0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000218HP:0000218High palate0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0000218HP:0000218High palate0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0000218HP:0000218High palate0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0000218HP:0000218High palate0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000218HP:0000218High palate0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0000218HP:0000218High palate0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040282 - Frequent6
HP:0000218HP:0000218High palate0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000218HP:0000218High palate0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000218HP:0000218High palate0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000218HP:0000218High palate0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome.134
HP:0000218HP:0000218High palate0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000218HP:0000218High palate0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000218HP:0000218High palate0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0000218HP:0000218High palate0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000218HP:0000218High palate0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000218HP:0000218High palate0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000218HP:0000218High palate0SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0000218HP:0000218High palate0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0000218HP:0000218High palate0SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0000218HP:0000218High palate0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000218HP:0000218High palate0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0000218HP:0000218High palate0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000218HP:0000218High palate0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000218HP:0000218High palate0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000218HP:0000218High palate0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0000218HP:0000218High palate0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0000218HP:0000218High palate0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000218HP:0000218High palate0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0000218HP:0000218High palate0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0000218HP:0000218High palate0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000218HP:0000218High palate0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000218HP:0000218High palate0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0000218HP:0000218High palate0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000218HP:0000218High palate0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000218HP:0000218High palate0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0000218HP:0000218High palate0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0000218HP:0000218High palate0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0000218HP:0000218High palate0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000218HP:0000218High palate0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0000218HP:0000218High palate0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection7
HP:0000218HP:0000218High palate0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0000218HP:0000218High palate0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000218HP:0000218High palate0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection260
HP:0000218HP:0000218High palate0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection504
HP:0000218HP:0000218High palate0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000218HP:0000218High palate0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0000218HP:0000218High palate0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0000218HP:0000218High palate0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000218HP:0000218High palate0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000218HP:0000218High palate0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000218HP:0000218High palate0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000218HP:0000218High palate0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000218HP:0000218High palate0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000218HP:0000218High palate0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000218HP:0000218High palate0SMG9 CL E G H5600625763OMIM:6199952
HP:0000218HP:0000218High palate0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000218HP:0000218High palate0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0000218HP:0000218High palate0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0000218HP:0000218High palate0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000218HP:0000218High palate0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000218HP:0000218High palate0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0000218HP:0000218High palate0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000218HP:0000218High palate0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000218HP:0000218High palate0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000218HP:0000218High palate0SON CL E G H665111183OMIM:617140Zttk syndrome.HP:0003577 - Congenital onset12
HP:0000218HP:0000218High palate0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000218HP:0000218High palate0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000218HP:0000218High palate0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0000218HP:0000218High palate0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000218HP:0000218High palate0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000218HP:0000218High palate0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000218HP:0000218High palate0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000218HP:0000218High palate0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0000218HP:0000218High palate0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0000218HP:0000218High palate0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000218HP:0000218High palate0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000218HP:0000218High palate0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000218HP:0000218High palate0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000218HP:0000218High palate0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000218HP:0000218High palate0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000218HP:0000218High palate0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000218HP:0000218High palate0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000218HP:0000218High palate0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0000218HP:0000218High palate0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040283 - Occasional14
HP:0000218HP:0000218High palate0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0000218HP:0000218High palate0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome.110
HP:0000218HP:0000218High palate0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000218HP:0000218High palate0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0000218HP:0000218High palate0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000218HP:0000218High palate0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000218HP:0000218High palate0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0000218HP:0000218High palate0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000218HP:0000218High palate0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0000218HP:0000218High palate0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0000218HP:0000218High palate0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000218HP:0000218High palate0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0000218HP:0000218High palate0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000218HP:0000218High palate0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000218HP:0000218High palate0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0000218HP:0000218High palate0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000218HP:0000218High palate0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0000218HP:0000218High palate0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0000218HP:0000218High palate0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000218HP:0000218High palate0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000218HP:0000218High palate0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000218HP:0000218High palate0TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.55
HP:0000218HP:0000218High palate0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000218HP:0000218High palate0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0000218HP:0000218High palate0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0000218HP:0000218High palate0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000218HP:0000218High palate0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000218HP:0000218High palate0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000218HP:0000218High palate0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040282 - Frequent12
HP:0000218HP:0000218High palate0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000218HP:0000218High palate0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection162
HP:0000218HP:0000218High palate0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000218HP:0000218High palate0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection85
HP:0000218HP:0000218High palate0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000218HP:0000218High palate0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection239
HP:0000218HP:0000218High palate0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent239
HP:0000218HP:0000218High palate0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection253
HP:0000218HP:0000218High palate0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent253
HP:0000218HP:0000218High palate0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000218HP:0000218High palate0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0000218HP:0000218High palate0THSD4 CL E G H7987525835OMIM:619825AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT122
HP:0000218HP:0000218High palate0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0000218HP:0000218High palate0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000218HP:0000218High palate0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000218HP:0000218High palate0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000218HP:0000218High palate0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000218HP:0000218High palate0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0000218HP:0000218High palate0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0000218HP:0000218High palate0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0000218HP:0000218High palate0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0000218HP:0000218High palate0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000218HP:0000218High palate0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000218HP:0000218High palate0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040282 - Frequent54
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0000218HP:0000218High palate0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0000218HP:0000218High palate0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040282 - Frequent108
HP:0000218HP:0000218High palate0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000218HP:0000218High palate0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0000218HP:0000218High palate0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0000218HP:0000218High palate0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000218HP:0000218High palate0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0000218HP:0000218High palate0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000218HP:0000218High palate0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000218HP:0000218High palate0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000218HP:0000218High palate0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000218HP:0000218High palate0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0000218HP:0000218High palate0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau typeHP:0040283 - Occasional4
HP:0000218HP:0000218High palate0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0000218HP:0000218High palate0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0000218HP:0000218High palate0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0000218HP:0000218High palate0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0000218HP:0000218High palate0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0000218HP:0000218High palate0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040282 - Frequent171
HP:0000218HP:0000218High palate0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000218HP:0000218High palate0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0000218HP:0000218High palate0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0000218HP:0000218High palate0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0000218HP:0000218High palate0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000218HP:0000218High palate0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0000218HP:0000218High palate0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndromeHP:0040283 - Occasional7
HP:0000218HP:0000218High palate0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5HP:0040283 - Occasional113
HP:0000218HP:0000218High palate0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35
HP:0000218HP:0000218High palate0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000218HP:0000218High palate0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman type13
HP:0000218HP:0000218High palate0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent33
HP:0000218HP:0000218High palate0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000218HP:0000218High palate0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000218HP:0000218High palate0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000218HP:0000218High palate0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000218HP:0000218High palate0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000218HP:0000218High palate0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000218HP:0000218High palate0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000218HP:0000218High palate0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000218HP:0000218High palate0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0000218HP:0000218High palate0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000218HP:0000218High palate0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0000218HP:0000218High palate0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0000218HP:0000218High palate0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000218HP:0000218High palate0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000218HP:0000218High palate0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000218HP:0000218High palate0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000218HP:0000218High palate0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0000218HP:0000218High palate0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0000218HP:0000218High palate0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000218HP:0000218High palate0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000218HP:0000218High palate0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent45
HP:0000218HP:0000218High palate0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0000218HP:0000218High palate0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000218HP:0000218High palate0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000218HP:0000218High palate0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000218HP:0000218High palate0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0000218HP:0000218High palate0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000218HP:0000218High palate0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent10
HP:0000218HP:0000218High palate0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 5.34
HP:0000218HP:0000218High palate0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0000218HP:0000218High palate0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0000218HP:0000218High palate0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0000218HP:0000218High palate0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000218HP:0000218High palate0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000218HP:0000218High palate0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0000218HP:0000218High palate0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000218HP:0002705High, narrow palate1ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000218HP:0002705High, narrow palate1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0000218HP:0002705High, narrow palate1ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0000218HP:0002705High, narrow palate1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000218HP:0002705High, narrow palate1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040282 - Frequent34
HP:0000218HP:0002705High, narrow palate1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000218HP:0002705High, narrow palate1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000218HP:0002705High, narrow palate1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000218HP:0002705High, narrow palate1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000218HP:0002705High, narrow palate1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0000218HP:0002705High, narrow palate1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000218HP:0002705High, narrow palate1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000218HP:0002705High, narrow palate1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000218HP:0002705High, narrow palate1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000218HP:0002705High, narrow palate1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000218HP:0002705High, narrow palate1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0000218HP:0002705High, narrow palate1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000218HP:0002705High, narrow palate1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000218HP:0002705High, narrow palate1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040282 - Frequent33
HP:0000218HP:0002705High, narrow palate1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000218HP:0002705High, narrow palate1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent9
HP:0000218HP:0002705High, narrow palate1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent31
HP:0000218HP:0002705High, narrow palate1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000218HP:0002705High, narrow palate1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent50
HP:0000218HP:0002705High, narrow palate1CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000218HP:0002705High, narrow palate1CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0000218HP:0002705High, narrow palate1COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000218HP:0002705High, narrow palate1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000218HP:0002705High, narrow palate1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000218HP:0002705High, narrow palate1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000218HP:0002705High, narrow palate1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0000218HP:0002705High, narrow palate1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000218HP:0002705High, narrow palate1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000218HP:0002705High, narrow palate1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000218HP:0002705High, narrow palate1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040282 - Frequent164
HP:0000218HP:0002705High, narrow palate1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000218HP:0002705High, narrow palate1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040282 - Frequent27
HP:0000218HP:0002705High, narrow palate1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000218HP:0002705High, narrow palate1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000218HP:0002705High, narrow palate1ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0000218HP:0002705High, narrow palate1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000218HP:0002705High, narrow palate1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000218HP:0002705High, narrow palate1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000218HP:0002705High, narrow palate1ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000218HP:0002705High, narrow palate1FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0000218HP:0002705High, narrow palate1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000218HP:0002705High, narrow palate1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0000218HP:0002705High, narrow palate1FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0000218HP:0002705High, narrow palate1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000218HP:0002705High, narrow palate1FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0000218HP:0002705High, narrow palate1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000218HP:0002705High, narrow palate1FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0000218HP:0002705High, narrow palate1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040284 - Very rare143
HP:0000218HP:0002705High, narrow palate1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000218HP:0002705High, narrow palate1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0000218HP:0002705High, narrow palate1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent3
HP:0000218HP:0002705High, narrow palate1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000218HP:0002705High, narrow palate1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0000218HP:0002705High, narrow palate1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0000218HP:0002705High, narrow palate1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000218HP:0002705High, narrow palate1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000218HP:0002705High, narrow palate1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000218HP:0002705High, narrow palate1H4C5 CL E G H83674790OMIM:619950
HP:0000218HP:0002705High, narrow palate1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000218HP:0002705High, narrow palate1HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0000218HP:0002705High, narrow palate1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000218HP:0002705High, narrow palate1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000218HP:0002705High, narrow palate1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000218HP:0002705High, narrow palate1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000218HP:0002705High, narrow palate1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000218HP:0002705High, narrow palate1KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0000218HP:0002705High, narrow palate1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000218HP:0002705High, narrow palate1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0000218HP:0002705High, narrow palate1LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0000218HP:0002705High, narrow palate1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000218HP:0002705High, narrow palate1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000218HP:0002705High, narrow palate1MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndromeHP:0040281 - Very frequent11
HP:0000218HP:0002705High, narrow palate1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000218HP:0002705High, narrow palate1MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000218HP:0002705High, narrow palate1MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0000218HP:0002705High, narrow palate1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0000218HP:0002705High, narrow palate1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000218HP:0002705High, narrow palate1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000218HP:0002705High, narrow palate1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000218HP:0002705High, narrow palate1MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0000218HP:0002705High, narrow palate1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000218HP:0002705High, narrow palate1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000218HP:0002705High, narrow palate1MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0000218HP:0002705High, narrow palate1MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0000218HP:0002705High, narrow palate1MYMX CL E G H10192972652391OMIM:619941
HP:0000218HP:0002705High, narrow palate1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000218HP:0002705High, narrow palate1NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000218HP:0002705High, narrow palate1NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0000218HP:0002705High, narrow palate1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0000218HP:0002705High, narrow palate1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000218HP:0002705High, narrow palate1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000218HP:0002705High, narrow palate1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000218HP:0002705High, narrow palate1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0000218HP:0002705High, narrow palate1NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040281 - Very frequent144
HP:0000218HP:0002705High, narrow palate1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1.544
HP:0000218HP:0002705High, narrow palate1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent53
HP:0000218HP:0002705High, narrow palate1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent21
HP:0000218HP:0002705High, narrow palate1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent39
HP:0000218HP:0002705High, narrow palate1PCDHGC4 CL E G H560988717OMIM:619880
HP:0000218HP:0002705High, narrow palate1PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000218HP:0002705High, narrow palate1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000218HP:0002705High, narrow palate1PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000218HP:0002705High, narrow palate1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000218HP:0002705High, narrow palate1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0000218HP:0002705High, narrow palate1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0000218HP:0002705High, narrow palate1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000218HP:0002705High, narrow palate1PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0000218HP:0002705High, narrow palate1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0000218HP:0002705High, narrow palate1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0000218HP:0002705High, narrow palate1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000218HP:0002705High, narrow palate1RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000218HP:0002705High, narrow palate1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0000218HP:0002705High, narrow palate1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000218HP:0002705High, narrow palate1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000218HP:0002705High, narrow palate1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000218HP:0002705High, narrow palate1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000218HP:0002705High, narrow palate1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000218HP:0002705High, narrow palate1SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0000218HP:0002705High, narrow palate1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000218HP:0002705High, narrow palate1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000218HP:0002705High, narrow palate1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000218HP:0002705High, narrow palate1SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0000218HP:0002705High, narrow palate1SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0000218HP:0002705High, narrow palate1SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0000218HP:0002705High, narrow palate1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000218HP:0002705High, narrow palate1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0000218HP:0002705High, narrow palate1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000218HP:0002705High, narrow palate1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000218HP:0002705High, narrow palate1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000218HP:0002705High, narrow palate1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000218HP:0002705High, narrow palate1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000218HP:0002705High, narrow palate1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000218HP:0002705High, narrow palate1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000218HP:0002705High, narrow palate1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000218HP:0002705High, narrow palate1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000218HP:0002705High, narrow palate1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0000218HP:0002705High, narrow palate1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000218HP:0002705High, narrow palate1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0000218HP:0002705High, narrow palate1TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0000218HP:0002705High, narrow palate1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000218HP:0002705High, narrow palate1TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0000218HP:0002705High, narrow palate1TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0000218HP:0002705High, narrow palate1TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0000218HP:0002705High, narrow palate1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0000218HP:0002705High, narrow palate1UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000218HP:0002705High, narrow palate1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000218HP:0002705High, narrow palate1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000218HP:0002705High, narrow palate1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000218HP:0002705High, narrow palate1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040282 - Frequent83
HP:0000218HP:0002705High, narrow palate1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000218HP:0002705High, narrow palate1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040283 - Occasional13


Genes (717) :AASS ABCC6 ABL1 ACTA1 ACTA2 ACTN2 ADA2 ADAM22 ADARB1 ADAT3 AEBP1 AFF4 AGRN AIFM1 AK9 AKT1 ALDH6A1 ALG14 ALG2 ALG3 AMER1 ANAPC7 ANK1 ANKRD11 ANO1 ANOS1 ANTXR1 AP1G1 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC ARCN1 ARHGEF2 ARID1A ARID1B ARID2 ARL6 ARX ASH1L ASPH ASXL3 ATAD1 ATG7 ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRX B3GALT6 BAP1 BBS1 BCOR BCR BICRA BIN1 BLNK BLTP1 BMP2 BMP4 BMPR1A BRAF BRAT1 BRCA1 BRCA2 BRD4 BRIP1 CA2 CAMTA1 CARS1 CASK CBL CBS CCDC22 CCDC28B CCDC47 CD79A CD79B CD96 CDC45 CDC6 CDH11 CDH2 CDK10 CDK19 CDON CDT1 CEP152 CFL2 CHAMP1 CHAT CHD3 CHKA CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CLCF1 CLCN3 CLP1 CLTC CNOT1 CNTN1 CNTNAP1 COG1 COG5 COL11A1 COL12A1 COL13A1 COL1A2 COL2A1 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COLQ COPB1 COX14 COX6A2 CPLANE1 CPSF3 CPT2 CREBBP CRKL CRLF1 CSNK2A1 CTBP1 CTNNB1 CTNND2 CTSK CTU2 CUL4B DBH DCHS1 DDHD2 DDR2 DDX11 DDX59 DDX6 DHPS DHX30 DIS3L2 DISP1 DLG3 DLK1 DLL1 DMXL2 DOCK3 DOK7 DPAGT1 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DST DVL1 DVL3 EBP ECM1 EDEM3 EEF1A2 EFEMP2 EFL1 EFNB1 EIF2AK3 EIF4A3 ELN ENPP1 EP300 EPG5 ERCC2 ERCC3 ERCC4 ERLIN2 ERMARD ESCO2 EXOC6B EXOC7 EXOSC9 EYA1 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBN1 FBN2 FBXL3 FBXO28 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FLCN FLNA FLNB FN1 FOXE3 FOXH1 FOXL2 FOXP2 FRAS1 FREM2 FRMPD4 FUT8 FZD2 G6PC3 GAS1 GATA1 GATA4 GATAD2B GBA1 GEMIN4 GFPT1 GIPC1 GJA5 GJA8 GLE1 GLI2 GMNN GMPPB GNB1 GNB2 GNE GNPAT GPC3 GPC4 GPT2 GRB10 GRIP1 GSC GTF2E2 GTF2H5 H19 H4C5 HACD1 HBA1 HBA2 HDAC8 HECW2 HERC1 HEY2 HIVEP2 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXB1 HPDL HPGD HRAS HSD17B4 HSPA9 HSPG2 HUWE1 HYMAI HYOU1 IBA57 IER3IP1 IFT122 IFT140 IGBP1 IGF1R IGF2 IGHM IGLL1 IL11RA IL6ST INSR INTU IPO8 IRX5 ITGA7 KANSL1 KBTBD13 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK9 KCNN3 KDM5C KDM6A KIAA0753 KIF7 KLHL41 KLHL7 KLLN KMT2A KMT2B KMT2D KPTN KRAS LAGE3 LAMB2 LETM1 LGI4 LIG4 LMBRD1 LMNA LMOD3 LOX LRP12 LRP4 LRRC8A LTBP1 LTBP2 LZTR1 MAD2L2 MADD MAMLD1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MARS1 MAT2A MCM3AP MECP2 MED12 MED12L MED13L MED25 MEG3 MEGF10 MEGF8 MESD MFAP5 MID1 MINPP1 MKKS MN1 MOGS MPLKIP MRAS MRPL12 MSTO1 MTM1 MTX2 MUSK MYBPC1 MYCN MYH11 MYH2 MYH3 MYH7 MYL1 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NCDN NDUFA8 NDUFAF6 NEB NEFL NEK1 NEK9 NF1 NFIX NIPBL NODAL NONO NOTCH2 NOTCH2NLC NOTCH3 NR2F1 NRAS NRCAM NSD1 NSDHL NSRP1 NSUN2 NUP107 NUP188 NUP88 OBSL1 OCLN ODC1 OFD1 OGDHL ORC1 ORC4 ORC6 OSGEP OTUD6B PAFAH1B1 PAH PAK3 PALB2 PAX1 PAX7 PCDHGC4 PCGF2 PCLO PDE6D PDHX PDZD8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM3 PHIP PIEZO2 PIGA PIGB PIGH PIGL PIGN PIGO PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3R1 PLAA PLAGL1 PLCH1 PLOD1 PLXND1 PMM2 POGZ POLR1B POLR1C POLR1D POLR2A POLRMT POR PPP1CB PPP1R21 PPP2CA PPP2R5D PQBP1 PRKG1 PRMT7 PRPS1 PSAT1 PTCH1 PTDSS1 PTEN PTPN11 PTPN14 PUM1 PURA PUS1 PUS7 PYCR1 PYCR2 PYROXD1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAPSN RASA2 RBM10 RECQL4 REEP1 RERE RET REV3L RFWD3 RILPL1 RIN2 RIT1 RNASEH1 RNF113A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RRM2B RTL1 RUNX2 RUSC2 RYR1 SATB2 SC5D SCARF2 SCN4A SCNM1 SCO2 SDHB SDHC SDHD SEC23A SEC23B SEC24D SEC31A SELENON SEMA5A SET SETBP1 SH3PXD2B SHANK3 SHH SHOC2 SHOX SIAH1 SIK3 SIN3A SIX1 SIX3 SKI SLC10A7 SLC12A6 SLC17A5 SLC18A3 SLC25A1 SLC25A12 SLC25A24 SLC26A2 SLC2A10 SLC35A2 SLC39A13 SLC5A7 SLC6A17 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMARCD1 SMC1A SMC3 SMCHD1 SMG9 SMOC1 SMS SNAP25 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOX11 SOX6 SOX9 SP7 SPATA5L1 SPEG SPEN SPOP SPRED1 SPRED2 SPTBN1 SPTBN4 SRY STAC3 STAG1 STAG2 STAT3 STIL SURF1 SYNGAP1 SYT2 TAB2 TAF1 TAF6 TAOK1 TARS1 TASP1 TBC1D20 TBC1D24 TBCK TBX1 TBX4 TCF3 TCOF1 TCTN3 TDGF1 TET3 TFAP2A TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC2 THSD4 TIMM50 TLK2 TMCO1 TMEM216 TNNI2 TNNT3 TOE1 TOGARAM1 TOPORS TPM2 TPM3 TRIO TRIP12 TRIP4 TRMU TRNE TRNN TRNS1 TRPS1 TSR2 TTC5 TTN TUBB TUBB3 TWIST1 TWIST2 TWNK UBA1 UBE2T UBE3B UPF3B USF3 USP9X VAC14 VAMP1 VPS13B VPS51 WARS2 WASHC5 WDR35 WDR4 WDR73 WLS WNT5A WNT7A XRCC2 YARS1 YARS2 YWHAE YY1 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZIC2 ZMPSTE24 ZMYM2 ZNF292 ZNF341 ZNF699

Diseases (708) :ORPHA:2203 ORPHA:758 OMIM:177850 OMIM:617602 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:161800 ORPHA:171436 ORPHA:91387 OMIM:618654 ORPHA:124 OMIM:617933 OMIM:618862 ORPHA:363528 ORPHA:536532 OMIM:618000 OMIM:616368 ORPHA:444077 OMIM:615120 ORPHA:98913 ORPHA:98914 OMIM:300232 ORPHA:201 OMIM:615109 OMIM:614105 ORPHA:353327 OMIM:607906 OMIM:616228 ORPHA:79321 OMIM:601110 OMIM:300373 ORPHA:2780 OMIM:619699 ORPHA:251066 ORPHA:261250 OMIM:620045 OMIM:308700 OMIM:230740 OMIM:619548 ORPHA:85335 ORPHA:280763 OMIM:614066 OMIM:612936 OMIM:614067 ORPHA:3258 ORPHA:261584 OMIM:617164 OMIM:617523 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:209900 OMIM:300004 OMIM:300215 OMIM:617796 OMIM:601552 ORPHA:352577 OMIM:615485 OMIM:618011 OMIM:619422 OMIM:618494 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:79500 ORPHA:3473 OMIM:617402 OMIM:304150 ORPHA:198 OMIM:210600 OMIM:309580 ORPHA:536467 ORPHA:93359 OMIM:271640 OMIM:619762 OMIM:309800 ORPHA:261330 OMIM:619325 ORPHA:169186 OMIM:255200 ORPHA:33110 OMIM:617822 OMIM:617877 ORPHA:139471 OMIM:607932 ORPHA:79076 ORPHA:1340 OMIM:115150 OMIM:163950 OMIM:618056 ORPHA:84 ORPHA:199 ORPHA:2785 OMIM:614756 ORPHA:33364 OMIM:300749 ORPHA:648 ORPHA:394 OMIM:236200 ORPHA:7 OMIM:618268 OMIM:211750 ORPHA:1308 ORPHA:2554 OMIM:617063 OMIM:211380 OMIM:619736 OMIM:618929 OMIM:617694 OMIM:618916 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:613823 OMIM:610687 OMIM:616579 OMIM:618205 OMIM:620023 OMIM:601462 OMIM:608930 OMIM:616313 OMIM:616322 OMIM:616323 OMIM:608931 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 OMIM:143095 OMIM:610313 ORPHA:1545 OMIM:619512 OMIM:615803 OMIM:617854 OMIM:618500 ORPHA:556955 OMIM:612540 OMIM:618186 ORPHA:263508 OMIM:611209 ORPHA:263487 ORPHA:560 OMIM:604841 ORPHA:536516 OMIM:616470 OMIM:616720 ORPHA:230851 ORPHA:93315 ORPHA:286 OMIM:619329 OMIM:254090 ORPHA:98915 OMIM:619255 OMIM:619053 OMIM:619062 ORPHA:2754 OMIM:277170 OMIM:619876 ORPHA:228308 OMIM:608836 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:272430 OMIM:617062 OMIM:617915 OMIM:615075 ORPHA:281 ORPHA:763 OMIM:618142 ORPHA:85293 OMIM:223360 OMIM:601390 ORPHA:320380 OMIM:615033 OMIM:271665 OMIM:618175 OMIM:613398 ORPHA:2919 OMIM:174300 OMIM:618653 OMIM:618480 OMIM:617804 ORPHA:2849 OMIM:300850 ORPHA:96184 ORPHA:254531 OMIM:618663 OMIM:618292 OMIM:620070 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:1675 OMIM:619435 OMIM:615539 OMIM:614653 ORPHA:3107 OMIM:180700 ORPHA:401973 OMIM:300960 ORPHA:35173 ORPHA:530 OMIM:619493 OMIM:616393 OMIM:614437 OMIM:617941 ORPHA:1520 OMIM:226980 OMIM:268305 OMIM:613684 ORPHA:353284 ORPHA:1493 OMIM:242840 ORPHA:209951 ORPHA:280384 OMIM:611225 ORPHA:75857 ORPHA:3103 OMIM:268300 OMIM:619072 OMIM:618065 OMIM:113650 OMIM:166780 ORPHA:2792 OMIM:259775 OMIM:613658 OMIM:615546 OMIM:616914 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:608328 ORPHA:115 OMIM:121050 OMIM:606220 OMIM:619777 OMIM:612702 OMIM:166250 OMIM:101600 ORPHA:93258 OMIM:190440 ORPHA:168624 ORPHA:93259 ORPHA:93260 OMIM:610474 OMIM:602849 ORPHA:53271 OMIM:606812 OMIM:216340 ORPHA:3472 OMIM:610883 OMIM:305620 ORPHA:56305 OMIM:110100 ORPHA:209908 ORPHA:2052 OMIM:300983 OMIM:618005 OMIM:612541 ORPHA:251071 ORPHA:363686 ORPHA:85212 OMIM:617913 ORPHA:98897 OMIM:612474 OMIM:611890 ORPHA:488613 OMIM:616973 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:222765 ORPHA:373 OMIM:616281 ORPHA:96182 OMIM:602471 ORPHA:231140 OMIM:619950 ORPHA:98791 OMIM:300882 OMIM:617268 OMIM:617011 ORPHA:457359 OMIM:616977 OMIM:620083 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:614744 OMIM:619026 OMIM:259100 OMIM:218040 OMIM:261515 OMIM:233400 OMIM:616854 ORPHA:800 OMIM:255800 OMIM:309590 ORPHA:96191 OMIM:233600 OMIM:615330 OMIM:614231 OMIM:218330 OMIM:266920 ORPHA:52055 OMIM:300472 OMIM:270450 OMIM:614188 OMIM:619752 OMIM:619750 OMIM:262190 ORPHA:769 OMIM:617926 ORPHA:60030 OMIM:619472 OMIM:611174 OMIM:610443 ORPHA:420561 OMIM:135500 OMIM:170390 ORPHA:37553 OMIM:614098 ORPHA:435628 OMIM:612292 ORPHA:166108 OMIM:618658 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:200990 OMIM:615731 OMIM:617055 OMIM:605130 ORPHA:319182 OMIM:619934 ORPHA:397612 OMIM:615637 OMIM:615278 OMIM:609942 OMIM:301006 OMIM:620089 OMIM:617468 ORPHA:235 OMIM:277380 ORPHA:740 OMIM:248370 ORPHA:90153 OMIM:617168 OMIM:164310 OMIM:613506 OMIM:619451 OMIM:251750 OMIM:616564 OMIM:605275 OMIM:619004 OMIM:619005 ORPHA:456328 OMIM:619775 OMIM:618918 ORPHA:3238 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:619869 OMIM:619692 OMIM:618124 OMIM:300260 OMIM:300055 ORPHA:93932 ORPHA:776 OMIM:309520 OMIM:300895 OMIM:618872 ORPHA:369891 ORPHA:464738 OMIM:614399 OMIM:614976 OMIM:618644 OMIM:616166 ORPHA:2745 OMIM:300000 ORPHA:284339 ORPHA:2473 OMIM:618774 OMIM:606056 ORPHA:79330 OMIM:618951 ORPHA:502423 OMIM:617675 OMIM:310400 ORPHA:596 OMIM:619127 OMIM:208150 OMIM:618524 OMIM:164280 OMIM:605637 OMIM:193700 ORPHA:1147 ORPHA:324604 ORPHA:59135 OMIM:160500 OMIM:255160 OMIM:618414 OMIM:619110 ORPHA:1358 OMIM:254940 OMIM:619941 OMIM:616549 OMIM:618975 ORPHA:171881 OMIM:617336 OMIM:300855 ORPHA:276432 OMIM:619373 OMIM:619272 OMIM:618239 ORPHA:399103 OMIM:256030 OMIM:607684 ORPHA:2751 OMIM:617022 ORPHA:363700 ORPHA:420179 OMIM:602535 OMIM:122470 ORPHA:466791 OMIM:300967 OMIM:102500 OMIM:130720 ORPHA:2789 OMIM:615722 OMIM:619833 OMIM:117550 OMIM:300831 ORPHA:251383 OMIM:620001 OMIM:618348 OMIM:616730 OMIM:618804 OMIM:618393 OMIM:612921 OMIM:251290 OMIM:619075 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:619701 OMIM:224690 OMIM:617729 ORPHA:505237 OMIM:617452 ORPHA:217385 ORPHA:2209 OMIM:300558 OMIM:618578 OMIM:619880 OMIM:618371 OMIM:608027 OMIM:245349 OMIM:620021 OMIM:170100 OMIM:214100 ORPHA:912 OMIM:614872 OMIM:614882 OMIM:202370 ORPHA:247262 OMIM:615816 ORPHA:443811 OMIM:617991 OMIM:114300 OMIM:108145 OMIM:617146 ORPHA:376 OMIM:248700 OMIM:300868 OMIM:618580 OMIM:618010 ORPHA:2059 ORPHA:280633 OMIM:614080 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:616809 OMIM:615108 OMIM:617527 ORPHA:521426 ORPHA:1900 ORPHA:570 ORPHA:79318 OMIM:616364 ORPHA:468678 ORPHA:861 OMIM:618603 OMIM:619743 ORPHA:95699 OMIM:617506 OMIM:619383 OMIM:618354 ORPHA:457279 OMIM:309500 OMIM:617157 OMIM:300661 OMIM:616038 ORPHA:2658 OMIM:158350 OMIM:613611 OMIM:617931 OMIM:616158 ORPHA:438216 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:618342 OMIM:612940 ORPHA:481152 OMIM:617258 OMIM:617982 ORPHA:2510 OMIM:201000 ORPHA:1387 OMIM:212720 OMIM:618388 OMIM:616326 OMIM:311900 OMIM:218600 ORPHA:1225 OMIM:266280 ORPHA:221016 OMIM:268400 OMIM:620011 OMIM:616975 OMIM:162300 OMIM:619790 OMIM:613075 ORPHA:217335 ORPHA:329336 OMIM:105650 OMIM:617412 OMIM:303600 ORPHA:192 ORPHA:1452 OMIM:119600 OMIM:617773 ORPHA:98905 OMIM:619542 OMIM:255320 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:607330 ORPHA:46059 OMIM:600920 OMIM:614198 OMIM:620107 OMIM:604377 OMIM:607812 ORPHA:50814 OMIM:616294 OMIM:618651 OMIM:602771 OMIM:618106 OMIM:616078 ORPHA:798 OMIM:249420 OMIM:606232 OMIM:607721 ORPHA:2632 OMIM:127300 ORPHA:314795 OMIM:619314 OMIM:618162 OMIM:613406 OMIM:182212 OMIM:618363 OMIM:218000 OMIM:269920 OMIM:612949 OMIM:612289 ORPHA:93307 OMIM:208050 OMIM:300896 OMIM:612350 ORPHA:457212 OMIM:619657 OMIM:619656 ORPHA:284984 OMIM:601358 ORPHA:3051 OMIM:614608 OMIM:618779 OMIM:300590 OMIM:610759 OMIM:603457 OMIM:619995 OMIM:616920 OMIM:206920 ORPHA:1106 OMIM:309583 ORPHA:3063 OMIM:117650 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:617140 OMIM:615866 OMIM:618971 OMIM:114290 OMIM:613849 OMIM:619616 OMIM:615959 OMIM:619312 OMIM:618829 OMIM:611431 OMIM:619745 OMIM:619475 OMIM:617519 ORPHA:1772 OMIM:255995 ORPHA:168572 ORPHA:502434 OMIM:147060 OMIM:220110 ORPHA:544254 ORPHA:228410 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:619575 OMIM:618950 OMIM:220500 ORPHA:488632 OMIM:188400 OMIM:147891 OMIM:258860 ORPHA:2753 OMIM:618798 ORPHA:1297 OMIM:616145 OMIM:614816 OMIM:615582 ORPHA:457240 OMIM:619825 OMIM:617698 OMIM:618050 OMIM:213980 OMIM:608091 OMIM:601680 OMIM:614969 OMIM:619185 OMIM:609285 OMIM:609284 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 ORPHA:486815 OMIM:617066 OMIM:616866 ORPHA:254864 ORPHA:77258 OMIM:619244 OMIM:156610 ORPHA:300570 OMIM:617746 OMIM:209885 OMIM:616138 ORPHA:1145 OMIM:244450 ORPHA:2707 OMIM:300676 ORPHA:480880 ORPHA:193 OMIM:216550 OMIM:618606 ORPHA:572798 OMIM:613610 OMIM:614091 OMIM:618347 OMIM:251300 OMIM:619648 ORPHA:2879 OMIM:276820 OMIM:619418 ORPHA:506358 OMIM:617557 OMIM:259050 OMIM:614069 OMIM:314580 OMIM:609637 OMIM:608612 OMIM:619522 OMIM:619188 OMIM:618282 OMIM:619488
 

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