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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Narrow palate (HP:0000189)help
Term ID: 189
Name: Narrow palate
Synonym: Decreased palatal width; Decreased transverse dimension of palate; Narrow palate; Narrow roof of mouth
Definition: Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Comments:
Reference: HP:0000189
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
..expandHigh palate (HP:0000218) 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:0000189HP:0000189Narrow palate0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste415
HP:0000189HP:0000189Narrow palate0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0000189HP:0000189Narrow palate0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0000189HP:0000189Narrow palate0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0000189HP:0000189Narrow palate0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000189HP:0000189Narrow palate0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000189HP:0000189Narrow palate0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0000189HP:0000189Narrow palate0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0000189HP:0000189Narrow palate0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0000189HP:0000189Narrow palate0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0000189HP:0000189Narrow palate0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000189HP:0000189Narrow palate0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000189HP:0000189Narrow palate0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000189HP:0000189Narrow palate0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000189HP:0000189Narrow palate0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000189HP:0000189Narrow palate0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000189HP:0000189Narrow palate0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0000189HP:0000189Narrow palate0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000189HP:0000189Narrow palate0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000189HP:0000189Narrow palate0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000189HP:0000189Narrow palate0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0000189HP:0000189Narrow palate0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000189HP:0000189Narrow palate0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000189HP:0000189Narrow palate0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000189HP:0000189Narrow palate0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000189HP:0000189Narrow palate0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000189HP:0000189Narrow palate0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000189HP:0000189Narrow palate0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0000189HP:0000189Narrow palate0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0000189HP:0000189Narrow palate0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000189HP:0000189Narrow palate0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0000189HP:0000189Narrow palate0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0000189HP:0000189Narrow palate0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0000189HP:0000189Narrow palate0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000189HP:0000189Narrow palate0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0000189HP:0000189Narrow palate0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000189HP:0000189Narrow palate0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000189HP:0000189Narrow palate0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0000189HP:0000189Narrow palate0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0000189HP:0000189Narrow palate0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0000189HP:0000189Narrow palate0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0000189HP:0000189Narrow palate0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000189HP:0000189Narrow palate0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000189HP:0000189Narrow palate0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000189HP:0000189Narrow palate0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000189HP:0000189Narrow palate0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0000189HP:0000189Narrow palate0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0000189HP:0000189Narrow palate0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0000189HP:0000189Narrow palate0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000189HP:0000189Narrow palate0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000189HP:0000189Narrow palate0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000189HP:0000189Narrow palate0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000189HP:0000189Narrow palate0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040281 - Very frequent3
HP:0000189HP:0000189Narrow palate0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0000189HP:0000189Narrow palate0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0000189HP:0000189Narrow palate0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000189HP:0000189Narrow palate0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000189HP:0000189Narrow palate0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000189HP:0000189Narrow palate0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000189HP:0000189Narrow palate0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0000189HP:0000189Narrow palate0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0000189HP:0000189Narrow palate0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0000189HP:0000189Narrow palate0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000189HP:0000189Narrow palate0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0000189HP:0000189Narrow palate0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000189HP:0000189Narrow palate0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0000189HP:0000189Narrow palate0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0000189HP:0000189Narrow palate0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040282 - Frequent175
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000189HP:0000189Narrow palate0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000189HP:0000189Narrow palate0FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0000189HP:0000189Narrow palate0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000189HP:0000189Narrow palate0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000189HP:0000189Narrow palate0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000189HP:0000189Narrow palate0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0000189HP:0000189Narrow palate0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0000189HP:0000189Narrow palate0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000189HP:0000189Narrow palate0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000189HP:0000189Narrow palate0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0000189HP:0000189Narrow palate0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000189HP:0000189Narrow palate0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000189HP:0000189Narrow palate0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000189HP:0000189Narrow palate0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000189HP:0000189Narrow palate0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000189HP:0000189Narrow palate0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000189HP:0000189Narrow palate0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000189HP:0000189Narrow palate0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000189HP:0000189Narrow palate0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000189HP:0000189Narrow palate0H4C5 CL E G H83674790OMIM:619950
HP:0000189HP:0000189Narrow palate0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000189HP:0000189Narrow palate0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0000189HP:0000189Narrow palate0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0000189HP:0000189Narrow palate0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000189HP:0000189Narrow palate0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000189HP:0000189Narrow palate0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0000189HP:0000189Narrow palate0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000189HP:0000189Narrow palate0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000189HP:0000189Narrow palate0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000189HP:0000189Narrow palate0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000189HP:0000189Narrow palate0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000189HP:0000189Narrow palate0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome3
HP:0000189HP:0000189Narrow palate0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0000189HP:0000189Narrow palate0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0000189HP:0000189Narrow palate0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection6
HP:0000189HP:0000189Narrow palate0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0000189HP:0000189Narrow palate0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000189HP:0000189Narrow palate0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000189HP:0000189Narrow palate0MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndrome11
HP:0000189HP:0000189Narrow palate0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000189HP:0000189Narrow palate0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000189HP:0000189Narrow palate0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection13
HP:0000189HP:0000189Narrow palate0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0000189HP:0000189Narrow palate0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000189HP:0000189Narrow palate0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000189HP:0000189Narrow palate0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0000189HP:0000189Narrow palate0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000189HP:0000189Narrow palate0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000189HP:0000189Narrow palate0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection11
HP:0000189HP:0000189Narrow palate0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000189HP:0000189Narrow palate0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0000189HP:0000189Narrow palate0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection418
HP:0000189HP:0000189Narrow palate0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection326
HP:0000189HP:0000189Narrow palate0MYMX CL E G H10192972652391OMIM:619941
HP:0000189HP:0000189Narrow palate0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000189HP:0000189Narrow palate0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000189HP:0000189Narrow palate0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0000189HP:0000189Narrow palate0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0000189HP:0000189Narrow palate0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0000189HP:0000189Narrow palate0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000189HP:0000189Narrow palate0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000189HP:0000189Narrow palate0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000189HP:0000189Narrow palate0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000189HP:0000189Narrow palate0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000189HP:0000189Narrow palate0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndrome144
HP:0000189HP:0000189Narrow palate0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000189HP:0000189Narrow palate0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000189HP:0000189Narrow palate0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0000189HP:0000189Narrow palate0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0000189HP:0000189Narrow palate0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0000189HP:0000189Narrow palate0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000189HP:0000189Narrow palate0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 36
HP:0000189HP:0000189Narrow palate0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000189HP:0000189Narrow palate0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B99
HP:0000189HP:0000189Narrow palate0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0000189HP:0000189Narrow palate0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000189HP:0000189Narrow palate0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0000189HP:0000189Narrow palate0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000189HP:0000189Narrow palate0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection41
HP:0000189HP:0000189Narrow palate0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesHP:0040284 - Very rare8
HP:0000189HP:0000189Narrow palate0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0000189HP:0000189Narrow palate0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0000189HP:0000189Narrow palate0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0000189HP:0000189Narrow palate0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000189HP:0000189Narrow palate0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000189HP:0000189Narrow palate0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0000189HP:0000189Narrow palate0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome445
HP:0000189HP:0000189Narrow palate0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0000189HP:0000189Narrow palate0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0000189HP:0000189Narrow palate0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000189HP:0000189Narrow palate0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0000189HP:0000189Narrow palate0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000189HP:0000189Narrow palate0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000189HP:0000189Narrow palate0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000189HP:0000189Narrow palate0SCNM1 CL E G H7900523136OMIM:620107
HP:0000189HP:0000189Narrow palate0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000189HP:0000189Narrow palate0SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0000189HP:0000189Narrow palate0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000189HP:0000189Narrow palate0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0000189HP:0000189Narrow palate0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0000189HP:0000189Narrow palate0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000189HP:0000189Narrow palate0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000189HP:0000189Narrow palate0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0000189HP:0000189Narrow palate0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000189HP:0000189Narrow palate0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0000189HP:0000189Narrow palate0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection7
HP:0000189HP:0000189Narrow palate0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection260
HP:0000189HP:0000189Narrow palate0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection504
HP:0000189HP:0000189Narrow palate0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0000189HP:0000189Narrow palate0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000189HP:0000189Narrow palate0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000189HP:0000189Narrow palate0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000189HP:0000189Narrow palate0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0000189HP:0000189Narrow palate0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000189HP:0000189Narrow palate0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0000189HP:0000189Narrow palate0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000189HP:0000189Narrow palate0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000189HP:0000189Narrow palate0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000189HP:0000189Narrow palate0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000189HP:0000189Narrow palate0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0000189HP:0000189Narrow palate0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0000189HP:0000189Narrow palate0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000189HP:0000189Narrow palate0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000189HP:0000189Narrow palate0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000189HP:0000189Narrow palate0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0000189HP:0000189Narrow palate0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 14.17
HP:0000189HP:0000189Narrow palate0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection162
HP:0000189HP:0000189Narrow palate0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000189HP:0000189Narrow palate0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection85
HP:0000189HP:0000189Narrow palate0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection239
HP:0000189HP:0000189Narrow palate0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection253
HP:0000189HP:0000189Narrow palate0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0000189HP:0000189Narrow palate0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000189HP:0000189Narrow palate0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0000189HP:0000189Narrow palate0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0000189HP:0000189Narrow palate0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman type13
HP:0000189HP:0000189Narrow palate0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000189HP:0000189Narrow palate0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000189HP:0000189Narrow palate0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000189HP:0000189Narrow palate0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0000189HP:0000189Narrow palate0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000189HP:0000189Narrow palate0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000189HP:0000189Narrow palate0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0000189HP:0000189Narrow palate0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0000189HP:0002705High, narrow palate1ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000189HP:0002705High, narrow palate1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0000189HP:0002705High, narrow palate1ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0000189HP:0002705High, narrow palate1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000189HP:0002705High, narrow palate1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040282 - Frequent34
HP:0000189HP:0002705High, narrow palate1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000189HP:0002705High, narrow palate1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000189HP:0002705High, narrow palate1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000189HP:0002705High, narrow palate1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000189HP:0002705High, narrow palate1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0000189HP:0002705High, narrow palate1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000189HP:0002705High, narrow palate1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000189HP:0002705High, narrow palate1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000189HP:0002705High, narrow palate1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000189HP:0002705High, narrow palate1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000189HP:0002705High, narrow palate1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0000189HP:0002705High, narrow palate1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000189HP:0002705High, narrow palate1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000189HP:0002705High, narrow palate1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040282 - Frequent33
HP:0000189HP:0002705High, narrow palate1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000189HP:0002705High, narrow palate1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent9
HP:0000189HP:0002705High, narrow palate1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent31
HP:0000189HP:0002705High, narrow palate1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000189HP:0002705High, narrow palate1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent50
HP:0000189HP:0002705High, narrow palate1CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000189HP:0002705High, narrow palate1CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0000189HP:0002705High, narrow palate1COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000189HP:0002705High, narrow palate1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000189HP:0002705High, narrow palate1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000189HP:0002705High, narrow palate1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000189HP:0002705High, narrow palate1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0000189HP:0002705High, narrow palate1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000189HP:0002705High, narrow palate1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000189HP:0002705High, narrow palate1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000189HP:0002705High, narrow palate1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040282 - Frequent164
HP:0000189HP:0002705High, narrow palate1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000189HP:0002705High, narrow palate1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040282 - Frequent27
HP:0000189HP:0002705High, narrow palate1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000189HP:0002705High, narrow palate1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000189HP:0002705High, narrow palate1ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0000189HP:0002705High, narrow palate1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000189HP:0002705High, narrow palate1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000189HP:0002705High, narrow palate1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000189HP:0002705High, narrow palate1ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000189HP:0002705High, narrow palate1FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0000189HP:0002705High, narrow palate1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000189HP:0002705High, narrow palate1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0000189HP:0002705High, narrow palate1FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0000189HP:0002705High, narrow palate1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000189HP:0002705High, narrow palate1FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0000189HP:0002705High, narrow palate1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000189HP:0002705High, narrow palate1FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0000189HP:0002705High, narrow palate1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040284 - Very rare143
HP:0000189HP:0002705High, narrow palate1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000189HP:0002705High, narrow palate1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0000189HP:0002705High, narrow palate1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent3
HP:0000189HP:0002705High, narrow palate1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000189HP:0002705High, narrow palate1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0000189HP:0002705High, narrow palate1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0000189HP:0002705High, narrow palate1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000189HP:0002705High, narrow palate1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000189HP:0002705High, narrow palate1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000189HP:0002705High, narrow palate1H4C5 CL E G H83674790OMIM:619950
HP:0000189HP:0002705High, narrow palate1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000189HP:0002705High, narrow palate1HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0000189HP:0002705High, narrow palate1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000189HP:0002705High, narrow palate1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000189HP:0002705High, narrow palate1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000189HP:0002705High, narrow palate1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000189HP:0002705High, narrow palate1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000189HP:0002705High, narrow palate1KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0000189HP:0002705High, narrow palate1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000189HP:0002705High, narrow palate1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0000189HP:0002705High, narrow palate1LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0000189HP:0002705High, narrow palate1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000189HP:0002705High, narrow palate1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000189HP:0002705High, narrow palate1MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndromeHP:0040281 - Very frequent11
HP:0000189HP:0002705High, narrow palate1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000189HP:0002705High, narrow palate1MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000189HP:0002705High, narrow palate1MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0000189HP:0002705High, narrow palate1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0000189HP:0002705High, narrow palate1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000189HP:0002705High, narrow palate1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000189HP:0002705High, narrow palate1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000189HP:0002705High, narrow palate1MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0000189HP:0002705High, narrow palate1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000189HP:0002705High, narrow palate1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000189HP:0002705High, narrow palate1MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0000189HP:0002705High, narrow palate1MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0000189HP:0002705High, narrow palate1MYMX CL E G H10192972652391OMIM:619941
HP:0000189HP:0002705High, narrow palate1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000189HP:0002705High, narrow palate1NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000189HP:0002705High, narrow palate1NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0000189HP:0002705High, narrow palate1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0000189HP:0002705High, narrow palate1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000189HP:0002705High, narrow palate1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000189HP:0002705High, narrow palate1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000189HP:0002705High, narrow palate1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0000189HP:0002705High, narrow palate1NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040281 - Very frequent144
HP:0000189HP:0002705High, narrow palate1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1.544
HP:0000189HP:0002705High, narrow palate1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent53
HP:0000189HP:0002705High, narrow palate1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent21
HP:0000189HP:0002705High, narrow palate1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent39
HP:0000189HP:0002705High, narrow palate1PCDHGC4 CL E G H560988717OMIM:619880
HP:0000189HP:0002705High, narrow palate1PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000189HP:0002705High, narrow palate1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000189HP:0002705High, narrow palate1PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000189HP:0002705High, narrow palate1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000189HP:0002705High, narrow palate1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0000189HP:0002705High, narrow palate1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0000189HP:0002705High, narrow palate1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000189HP:0002705High, narrow palate1PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0000189HP:0002705High, narrow palate1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0000189HP:0002705High, narrow palate1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0000189HP:0002705High, narrow palate1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000189HP:0002705High, narrow palate1RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000189HP:0002705High, narrow palate1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0000189HP:0002705High, narrow palate1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000189HP:0002705High, narrow palate1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000189HP:0002705High, narrow palate1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000189HP:0002705High, narrow palate1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000189HP:0002705High, narrow palate1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000189HP:0002705High, narrow palate1SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0000189HP:0002705High, narrow palate1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000189HP:0002705High, narrow palate1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000189HP:0002705High, narrow palate1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000189HP:0002705High, narrow palate1SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0000189HP:0002705High, narrow palate1SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0000189HP:0002705High, narrow palate1SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0000189HP:0002705High, narrow palate1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000189HP:0002705High, narrow palate1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0000189HP:0002705High, narrow palate1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000189HP:0002705High, narrow palate1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000189HP:0002705High, narrow palate1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000189HP:0002705High, narrow palate1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000189HP:0002705High, narrow palate1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000189HP:0002705High, narrow palate1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000189HP:0002705High, narrow palate1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000189HP:0002705High, narrow palate1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000189HP:0002705High, narrow palate1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000189HP:0002705High, narrow palate1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0000189HP:0002705High, narrow palate1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000189HP:0002705High, narrow palate1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0000189HP:0002705High, narrow palate1TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0000189HP:0002705High, narrow palate1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000189HP:0002705High, narrow palate1TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0000189HP:0002705High, narrow palate1TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0000189HP:0002705High, narrow palate1TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0000189HP:0002705High, narrow palate1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0000189HP:0002705High, narrow palate1UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000189HP:0002705High, narrow palate1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000189HP:0002705High, narrow palate1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000189HP:0002705High, narrow palate1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000189HP:0002705High, narrow palate1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040282 - Frequent83
HP:0000189HP:0002705High, narrow palate1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000189HP:0002705High, narrow palate1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040283 - Occasional13


Genes (183) :ABCC6 ACTA1 ACTA2 ADAMTS10 AEBP1 AFF4 AMER1 ANTXR1 APC APC2 ARID2 ARL6 ASXL1 ASXL3 ATN1 ATP6V1B2 ATP7A BBS1 BCOR BCR BMPR1A BRAF BRCA1 CARS1 CCBE1 CCDC22 CCDC28B CDC45 CDC6 CDK10 CDT1 CHD3 CNTN1 COL11A1 COL12A1 COL3A1 COPB1 CPT2 CREBBP CRKL CTSK DDX59 DIS3L2 DPM1 DPYSL5 DVL1 DVL3 ELMO2 ELN EP300 ERCC2 ERCC3 ERF ERMARD FBN1 FGFR1 FGFR2 FGFR3 FIG4 FLNA FOXE3 FOXP2 FZD2 GIPC1 GMNN GNE GPC3 GPC4 GRB10 GRIA3 GTF2E2 GTF2H5 H4C5 HECW2 HERC2 HEY2 HNRNPK HRAS IFT122 IL11RA INTU IPO8 KANSL1 KCNJ6 KCNK9 KLHL41 LOX LRP4 MADD MAP2K1 MAP3K7 MAPK1 MARS1 MAT2A MCM3AP MED12 MED12L MED25 MEGF8 MESD MFAP5 MPLKIP MUSK MYH11 MYLK MYMX NAA10 NDUFAF6 NEB NEK9 NIPBL NONO NOTCH2NLC NOTCH3 NSD1 OCRL ORC1 ORC4 ORC6 PCDHGC4 PCLO PEX1 PEX5 PIEZO2 PIGT PLOD1 POR PRKG1 PRUNE1 PTDSS1 PTEN PTPN11 RAB18 RARS2 RECQL4 RET RNF113A RPS6KA3 RUNX2 SCARF2 SCNM1 SETBP1 SH3BP2 SIN3A SKI SLC25A12 SLC25A24 SLC25A46 SLC35C1 SLC6A17 SMAD2 SMAD3 SMAD4 SMARCA2 SMG9 SMS SOX5 SPEN SPRED1 SPRED2 SPTBN1 TAF1 TAOK1 TARS1 TBC1D24 TBCK TBX1 TBX2 TCTN3 TECR TGFB2 TGFB3 TGFBR1 TGFBR2 TPM3 TRPS1 TWIST1 UBE3B VAC14 VPS13B WASHC5 WNT5A WNT7A

Diseases (160) :OMIM:177850 ORPHA:171433 ORPHA:91387 OMIM:277600 ORPHA:536532 OMIM:616368 ORPHA:2780 OMIM:230740 ORPHA:3258 OMIM:617169 OMIM:617808 OMIM:209900 OMIM:605039 ORPHA:352577 OMIM:618494 ORPHA:79500 ORPHA:198 OMIM:309800 ORPHA:261330 ORPHA:79076 OMIM:163950 OMIM:617883 ORPHA:33364 OMIM:235510 ORPHA:7 ORPHA:2554 OMIM:617694 OMIM:618205 OMIM:612540 OMIM:604841 ORPHA:536516 ORPHA:286 OMIM:619255 ORPHA:228308 OMIM:608836 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:265800 ORPHA:2919 ORPHA:2849 OMIM:608799 ORPHA:79322 OMIM:619435 ORPHA:3107 OMIM:180700 ORPHA:3019 OMIM:613684 ORPHA:353284 ORPHA:207 ORPHA:75857 OMIM:616914 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:608328 OMIM:190440 OMIM:101200 ORPHA:87 OMIM:123790 ORPHA:1555 ORPHA:794 OMIM:101400 ORPHA:53271 ORPHA:3472 ORPHA:555877 ORPHA:209908 ORPHA:98897 ORPHA:3166 ORPHA:373 OMIM:312870 ORPHA:96182 ORPHA:364028 OMIM:619950 OMIM:617268 OMIM:615516 ORPHA:352665 ORPHA:453504 ORPHA:3071 OMIM:218330 OMIM:614188 OMIM:617926 OMIM:619472 OMIM:610443 OMIM:614098 ORPHA:166108 OMIM:619004 ORPHA:3238 OMIM:619692 OMIM:618124 OMIM:305450 OMIM:618872 ORPHA:464738 OMIM:614976 OMIM:618644 OMIM:208150 OMIM:619941 OMIM:300855 ORPHA:276432 OMIM:618239 OMIM:617022 OMIM:122470 ORPHA:466791 OMIM:300967 ORPHA:2789 OMIM:117550 ORPHA:534 OMIM:619880 OMIM:608027 OMIM:214100 OMIM:202370 OMIM:248700 ORPHA:369837 ORPHA:1900 ORPHA:95699 OMIM:617481 ORPHA:2658 ORPHA:109 OMIM:614222 OMIM:611523 OMIM:266280 OMIM:162300 OMIM:303600 ORPHA:192 OMIM:119600 ORPHA:1452 OMIM:600920 OMIM:620107 OMIM:616078 OMIM:118400 OMIM:613406 OMIM:182212 OMIM:612949 OMIM:612289 OMIM:616505 ORPHA:99843 ORPHA:457212 ORPHA:3051 OMIM:601358 OMIM:616920 OMIM:309583 ORPHA:313892 OMIM:619312 OMIM:611431 OMIM:619745 OMIM:619475 OMIM:300966 OMIM:619575 ORPHA:488632 OMIM:188400 OMIM:618223 ORPHA:2753 OMIM:614020 OMIM:614816 OMIM:190350 ORPHA:2707 OMIM:216550 ORPHA:193 ORPHA:2879 OMIM:276820
 

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