Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011337	HP:0011337	Abnormality of mouth size	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011337	HP:0011337	Abnormality of mouth size	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011337	HP:0011337	Abnormality of mouth size	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011337	HP:0011337	Abnormality of mouth size	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011337	HP:0011337	Abnormality of mouth size	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011337	HP:0011337	Abnormality of mouth size	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0011337	HP:0011337	Abnormality of mouth size	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011337	HP:0011337	Abnormality of mouth size	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0011337	HP:0011337	Abnormality of mouth size	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0011337	HP:0011337	Abnormality of mouth size	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011337	HP:0011337	Abnormality of mouth size	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			19
HP:0011337	HP:0011337	Abnormality of mouth size	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011337	HP:0011337	Abnormality of mouth size	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011337	HP:0011337	Abnormality of mouth size	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0011337	HP:0011337	Abnormality of mouth size	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0011337	HP:0011337	Abnormality of mouth size	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0011337	HP:0011337	Abnormality of mouth size	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011337	HP:0011337	Abnormality of mouth size	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011337	HP:0011337	Abnormality of mouth size	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011337	HP:0011337	Abnormality of mouth size	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011337	HP:0011337	Abnormality of mouth size	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011337	HP:0011337	Abnormality of mouth size	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011337	HP:0011337	Abnormality of mouth size	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011337	HP:0011337	Abnormality of mouth size	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0011337	HP:0011337	Abnormality of mouth size	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0011337	HP:0011337	Abnormality of mouth size	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011337	HP:0011337	Abnormality of mouth size	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011337	HP:0011337	Abnormality of mouth size	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011337	HP:0011337	Abnormality of mouth size	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011337	HP:0011337	Abnormality of mouth size	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011337	HP:0011337	Abnormality of mouth size	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0011337	HP:0011337	Abnormality of mouth size	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0011337	HP:0011337	Abnormality of mouth size	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0011337	HP:0011337	Abnormality of mouth size	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0011337	HP:0011337	Abnormality of mouth size	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0011337	HP:0011337	Abnormality of mouth size	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011337	HP:0011337	Abnormality of mouth size	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0011337	HP:0011337	Abnormality of mouth size	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011337	HP:0011337	Abnormality of mouth size	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0011337	HP:0011337	Abnormality of mouth size	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011337	HP:0011337	Abnormality of mouth size	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			11
HP:0011337	HP:0011337	Abnormality of mouth size	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0011337	HP:0011337	Abnormality of mouth size	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0011337	HP:0011337	Abnormality of mouth size	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0011337	HP:0011337	Abnormality of mouth size	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011337	HP:0011337	Abnormality of mouth size	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011337	HP:0011337	Abnormality of mouth size	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0011337	HP:0011337	Abnormality of mouth size	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0011337	HP:0011337	Abnormality of mouth size	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0011337	HP:0011337	Abnormality of mouth size	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011337	HP:0011337	Abnormality of mouth size	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011337	HP:0011337	Abnormality of mouth size	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011337	HP:0011337	Abnormality of mouth size	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0011337	HP:0011337	Abnormality of mouth size	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0011337	HP:0011337	Abnormality of mouth size	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011337	HP:0011337	Abnormality of mouth size	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011337	HP:0011337	Abnormality of mouth size	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011337	HP:0011337	Abnormality of mouth size	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011337	HP:0011337	Abnormality of mouth size	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0011337	HP:0011337	Abnormality of mouth size	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011337	HP:0011337	Abnormality of mouth size	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0011337	HP:0011337	Abnormality of mouth size	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011337	HP:0011337	Abnormality of mouth size	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011337	HP:0011337	Abnormality of mouth size	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0011337	HP:0011337	Abnormality of mouth size	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011337	HP:0011337	Abnormality of mouth size	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0011337	HP:0011337	Abnormality of mouth size	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011337	HP:0011337	Abnormality of mouth size	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011337	HP:0011337	Abnormality of mouth size	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011337	HP:0011337	Abnormality of mouth size	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011337	HP:0011337	Abnormality of mouth size	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011337	HP:0011337	Abnormality of mouth size	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0011337	HP:0011337	Abnormality of mouth size	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0011337	HP:0011337	Abnormality of mouth size	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0011337	HP:0011337	Abnormality of mouth size	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011337	HP:0011337	Abnormality of mouth size	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0011337	HP:0011337	Abnormality of mouth size	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0011337	HP:0011337	Abnormality of mouth size	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011337	HP:0011337	Abnormality of mouth size	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0011337	HP:0011337	Abnormality of mouth size	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011337	HP:0011337	Abnormality of mouth size	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0011337	HP:0011337	Abnormality of mouth size	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0011337	HP:0011337	Abnormality of mouth size	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0011337	HP:0011337	Abnormality of mouth size	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2			263
HP:0011337	HP:0011337	Abnormality of mouth size	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0011337	HP:0011337	Abnormality of mouth size	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011337	HP:0011337	Abnormality of mouth size	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0011337	HP:0011337	Abnormality of mouth size	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011337	HP:0011337	Abnormality of mouth size	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011337	HP:0011337	Abnormality of mouth size	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0011337	HP:0011337	Abnormality of mouth size	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0011337	HP:0011337	Abnormality of mouth size	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011337	HP:0011337	Abnormality of mouth size	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011337	HP:0011337	Abnormality of mouth size	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011337	HP:0011337	Abnormality of mouth size	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011337	HP:0011337	Abnormality of mouth size	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011337	HP:0011337	Abnormality of mouth size	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011337	HP:0011337	Abnormality of mouth size	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011337	HP:0011337	Abnormality of mouth size	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011337	HP:0011337	Abnormality of mouth size	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011337	HP:0011337	Abnormality of mouth size	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011337	HP:0011337	Abnormality of mouth size	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011337	HP:0011337	Abnormality of mouth size	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011337	HP:0011337	Abnormality of mouth size	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011337	HP:0011337	Abnormality of mouth size	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011337	HP:0011337	Abnormality of mouth size	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011337	HP:0011337	Abnormality of mouth size	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011337	HP:0011337	Abnormality of mouth size	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0011337	HP:0011337	Abnormality of mouth size	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0011337	HP:0011337	Abnormality of mouth size	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011337	HP:0011337	Abnormality of mouth size	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011337	HP:0011337	Abnormality of mouth size	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011337	HP:0011337	Abnormality of mouth size	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011337	HP:0011337	Abnormality of mouth size	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0011337	HP:0011337	Abnormality of mouth size	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0011337	HP:0011337	Abnormality of mouth size	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011337	HP:0011337	Abnormality of mouth size	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011337	HP:0011337	Abnormality of mouth size	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011337	HP:0011337	Abnormality of mouth size	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011337	HP:0011337	Abnormality of mouth size	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011337	HP:0011337	Abnormality of mouth size	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011337	HP:0011337	Abnormality of mouth size	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0011337	HP:0011337	Abnormality of mouth size	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011337	HP:0011337	Abnormality of mouth size	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011337	HP:0011337	Abnormality of mouth size	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0011337	HP:0011337	Abnormality of mouth size	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011337	HP:0011337	Abnormality of mouth size	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0011337	HP:0011337	Abnormality of mouth size	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011337	HP:0011337	Abnormality of mouth size	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011337	HP:0011337	Abnormality of mouth size	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011337	HP:0011337	Abnormality of mouth size	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011337	HP:0011337	Abnormality of mouth size	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011337	HP:0011337	Abnormality of mouth size	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011337	HP:0011337	Abnormality of mouth size	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011337	HP:0011337	Abnormality of mouth size	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0011337	HP:0011337	Abnormality of mouth size	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011337	HP:0011337	Abnormality of mouth size	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0011337	HP:0011337	Abnormality of mouth size	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011337	HP:0011337	Abnormality of mouth size	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011337	HP:0011337	Abnormality of mouth size	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011337	HP:0011337	Abnormality of mouth size	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0011337	HP:0011337	Abnormality of mouth size	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0011337	HP:0011337	Abnormality of mouth size	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0011337	HP:0011337	Abnormality of mouth size	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0011337	HP:0011337	Abnormality of mouth size	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0011337	HP:0011337	Abnormality of mouth size	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011337	HP:0011337	Abnormality of mouth size	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0011337	HP:0011337	Abnormality of mouth size	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011337	HP:0011337	Abnormality of mouth size	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0011337	HP:0011337	Abnormality of mouth size	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011337	HP:0011337	Abnormality of mouth size	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011337	HP:0011337	Abnormality of mouth size	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0011337	HP:0011337	Abnormality of mouth size	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011337	HP:0011337	Abnormality of mouth size	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011337	HP:0011337	Abnormality of mouth size	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0011337	HP:0011337	Abnormality of mouth size	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0011337	HP:0011337	Abnormality of mouth size	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011337	HP:0011337	Abnormality of mouth size	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0011337	HP:0011337	Abnormality of mouth size	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0011337	HP:0011337	Abnormality of mouth size	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0011337	HP:0011337	Abnormality of mouth size	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011337	HP:0011337	Abnormality of mouth size	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0011337	HP:0011337	Abnormality of mouth size	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0011337	HP:0011337	Abnormality of mouth size	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011337	HP:0011337	Abnormality of mouth size	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011337	HP:0011337	Abnormality of mouth size	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011337	HP:0011337	Abnormality of mouth size	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0011337	HP:0011337	Abnormality of mouth size	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0011337	HP:0011337	Abnormality of mouth size	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011337	HP:0011337	Abnormality of mouth size	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0011337	HP:0011337	Abnormality of mouth size	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0011337	HP:0011337	Abnormality of mouth size	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0011337	HP:0011337	Abnormality of mouth size	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0011337	HP:0011337	Abnormality of mouth size	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011337	HP:0011337	Abnormality of mouth size	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011337	HP:0011337	Abnormality of mouth size	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011337	HP:0011337	Abnormality of mouth size	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011337	HP:0011337	Abnormality of mouth size	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011337	HP:0011337	Abnormality of mouth size	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0011337	HP:0011337	Abnormality of mouth size	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011337	HP:0011337	Abnormality of mouth size	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011337	HP:0011337	Abnormality of mouth size	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011337	HP:0011337	Abnormality of mouth size	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0011337	HP:0011337	Abnormality of mouth size	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011337	HP:0011337	Abnormality of mouth size	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011337	HP:0011337	Abnormality of mouth size	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0011337	HP:0011337	Abnormality of mouth size	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011337	HP:0011337	Abnormality of mouth size	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011337	HP:0011337	Abnormality of mouth size	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011337	HP:0011337	Abnormality of mouth size	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011337	HP:0011337	Abnormality of mouth size	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0011337	HP:0011337	Abnormality of mouth size	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0011337	HP:0011337	Abnormality of mouth size	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011337	HP:0011337	Abnormality of mouth size	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011337	HP:0011337	Abnormality of mouth size	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011337	HP:0011337	Abnormality of mouth size	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011337	HP:0011337	Abnormality of mouth size	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011337	HP:0011337	Abnormality of mouth size	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011337	HP:0011337	Abnormality of mouth size	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011337	HP:0011337	Abnormality of mouth size	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011337	HP:0011337	Abnormality of mouth size	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0011337	HP:0011337	Abnormality of mouth size	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0011337	HP:0011337	Abnormality of mouth size	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0011337	HP:0011337	Abnormality of mouth size	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0011337	HP:0011337	Abnormality of mouth size	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0011337	HP:0011337	Abnormality of mouth size	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011337	HP:0011337	Abnormality of mouth size	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011337	HP:0011337	Abnormality of mouth size	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011337	HP:0011337	Abnormality of mouth size	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011337	HP:0011337	Abnormality of mouth size	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011337	HP:0011337	Abnormality of mouth size	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0011337	HP:0011337	Abnormality of mouth size	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011337	HP:0011337	Abnormality of mouth size	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0011337	HP:0011337	Abnormality of mouth size	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0011337	HP:0011337	Abnormality of mouth size	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011337	HP:0011337	Abnormality of mouth size	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011337	HP:0011337	Abnormality of mouth size	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011337	HP:0011337	Abnormality of mouth size	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011337	HP:0011337	Abnormality of mouth size	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011337	HP:0011337	Abnormality of mouth size	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0011337	HP:0011337	Abnormality of mouth size	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011337	HP:0011337	Abnormality of mouth size	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011337	HP:0011337	Abnormality of mouth size	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011337	HP:0011337	Abnormality of mouth size	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011337	HP:0011337	Abnormality of mouth size	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011337	HP:0011337	Abnormality of mouth size	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0011337	HP:0011337	Abnormality of mouth size	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011337	HP:0011337	Abnormality of mouth size	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011337	HP:0011337	Abnormality of mouth size	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0011337	HP:0011337	Abnormality of mouth size	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011337	HP:0011337	Abnormality of mouth size	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0011337	HP:0011337	Abnormality of mouth size	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0011337	HP:0011337	Abnormality of mouth size	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011337	HP:0011337	Abnormality of mouth size	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0011337	HP:0011337	Abnormality of mouth size	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011337	HP:0011337	Abnormality of mouth size	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011337	HP:0011337	Abnormality of mouth size	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011337	HP:0011337	Abnormality of mouth size	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011337	HP:0011337	Abnormality of mouth size	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011337	HP:0011337	Abnormality of mouth size	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011337	HP:0011337	Abnormality of mouth size	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0011337	HP:0011337	Abnormality of mouth size	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011337	HP:0011337	Abnormality of mouth size	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011337	HP:0011337	Abnormality of mouth size	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011337	HP:0011337	Abnormality of mouth size	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011337	HP:0011337	Abnormality of mouth size	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011337	HP:0011337	Abnormality of mouth size	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011337	HP:0011337	Abnormality of mouth size	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0011337	HP:0011337	Abnormality of mouth size	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011337	HP:0011337	Abnormality of mouth size	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011337	HP:0011337	Abnormality of mouth size	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011337	HP:0011337	Abnormality of mouth size	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011337	HP:0011337	Abnormality of mouth size	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011337	HP:0011337	Abnormality of mouth size	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011337	HP:0011337	Abnormality of mouth size	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011337	HP:0011337	Abnormality of mouth size	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0011337	HP:0011337	Abnormality of mouth size	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0011337	HP:0011337	Abnormality of mouth size	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0011337	HP:0011337	Abnormality of mouth size	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2			43
HP:0011337	HP:0011337	Abnormality of mouth size	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0011337	HP:0011337	Abnormality of mouth size	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011337	HP:0011337	Abnormality of mouth size	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0011337	HP:0011337	Abnormality of mouth size	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0011337	HP:0011337	Abnormality of mouth size	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011337	HP:0011337	Abnormality of mouth size	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011337	HP:0011337	Abnormality of mouth size	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0011337	HP:0011337	Abnormality of mouth size	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011337	HP:0011337	Abnormality of mouth size	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011337	HP:0011337	Abnormality of mouth size	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011337	HP:0011337	Abnormality of mouth size	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011337	HP:0011337	Abnormality of mouth size	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011337	HP:0011337	Abnormality of mouth size	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0011337	HP:0011337	Abnormality of mouth size	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011337	HP:0011337	Abnormality of mouth size	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011337	HP:0011337	Abnormality of mouth size	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0011337	HP:0011337	Abnormality of mouth size	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011337	HP:0011337	Abnormality of mouth size	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0011337	HP:0000154	Wide mouth	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011337	HP:0000154	Wide mouth	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011337	HP:0000154	Wide mouth	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0011337	HP:0000154	Wide mouth	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011337	HP:0000154	Wide mouth	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.		123
HP:0011337	HP:0000154	Wide mouth	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.		2
HP:0011337	HP:0000160	Narrow mouth	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0011337	HP:0000154	Wide mouth	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0011337	HP:0000154	Wide mouth	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0011337	HP:0000154	Wide mouth	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011337	HP:0000154	Wide mouth	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0011337	HP:0000154	Wide mouth	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011337	HP:0000154	Wide mouth	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0011337	HP:0000160	Narrow mouth	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0011337	HP:0000160	Narrow mouth	1	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		19
HP:0011337	HP:0000160	Narrow mouth	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0011337	HP:0000154	Wide mouth	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0011337	HP:0000154	Wide mouth	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0011337	HP:0000160	Narrow mouth	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011337	HP:0000154	Wide mouth	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent		102
HP:0011337	HP:0000154	Wide mouth	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0011337	HP:0000154	Wide mouth	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0011337	HP:0000154	Wide mouth	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		49
HP:0011337	HP:0000154	Wide mouth	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0011337	HP:0000154	Wide mouth	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		48
HP:0011337	HP:0000154	Wide mouth	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0011337	HP:0000154	Wide mouth	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		41
HP:0011337	HP:0000154	Wide mouth	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0011337	HP:0000154	Wide mouth	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		18
HP:0011337	HP:0000154	Wide mouth	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0011337	HP:0000160	Narrow mouth	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0011337	HP:0000154	Wide mouth	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		88
HP:0011337	HP:0000154	Wide mouth	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011337	HP:0000154	Wide mouth	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		219
HP:0011337	HP:0000154	Wide mouth	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011337	HP:0000154	Wide mouth	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		25
HP:0011337	HP:0000160	Narrow mouth	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0011337	HP:0000160	Narrow mouth	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011337	HP:0000154	Wide mouth	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011337	HP:0000160	Narrow mouth	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011337	HP:0000154	Wide mouth	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0011337	HP:0000154	Wide mouth	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0011337	HP:0000154	Wide mouth	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		4
HP:0011337	HP:0000160	Narrow mouth	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0011337	HP:0000154	Wide mouth	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0011337	HP:0000154	Wide mouth	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0011337	HP:0000154	Wide mouth	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0011337	HP:0000160	Narrow mouth	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0011337	HP:0000160	Narrow mouth	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0011337	HP:0000154	Wide mouth	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	HP:0040283 - Occasional		61
HP:0011337	HP:0000160	Narrow mouth	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011337	HP:0000154	Wide mouth	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0011337	HP:0000160	Narrow mouth	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011337	HP:0000160	Narrow mouth	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011337	HP:0000154	Wide mouth	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0011337	HP:0000160	Narrow mouth	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0011337	HP:0000154	Wide mouth	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0011337	HP:0000160	Narrow mouth	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0011337	HP:0000160	Narrow mouth	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent		13
HP:0011337	HP:0000160	Narrow mouth	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0011337	HP:0000160	Narrow mouth	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0011337	HP:0000160	Narrow mouth	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011337	HP:0000160	Narrow mouth	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0011337	HP:0000154	Wide mouth	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0011337	HP:0000154	Wide mouth	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0011337	HP:0000160	Narrow mouth	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011337	HP:0000154	Wide mouth	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011337	HP:0000160	Narrow mouth	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional		34
HP:0011337	HP:0000160	Narrow mouth	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare		34
HP:0011337	HP:0000160	Narrow mouth	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0011337	HP:0000160	Narrow mouth	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0011337	HP:0000160	Narrow mouth	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011337	HP:0000160	Narrow mouth	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0011337	HP:0000160	Narrow mouth	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0011337	HP:0000160	Narrow mouth	1	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		11
HP:0011337	HP:0000154	Wide mouth	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0011337	HP:0000154	Wide mouth	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011337	HP:0000154	Wide mouth	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011337	HP:0000154	Wide mouth	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011337	HP:0000160	Narrow mouth	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0011337	HP:0000160	Narrow mouth	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0011337	HP:0000160	Narrow mouth	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0011337	HP:0000160	Narrow mouth	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0011337	HP:0000154	Wide mouth	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011337	HP:0000160	Narrow mouth	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0011337	HP:0000160	Narrow mouth	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0011337	HP:0000154	Wide mouth	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0011337	HP:0000160	Narrow mouth	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011337	HP:0000160	Narrow mouth	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011337	HP:0000154	Wide mouth	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0011337	HP:0000160	Narrow mouth	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0011337	HP:0000160	Narrow mouth	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0011337	HP:0000160	Narrow mouth	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	HP:0003593 - Infantile onset	27
HP:0011337	HP:0000160	Narrow mouth	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0011337	HP:0000160	Narrow mouth	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011337	HP:0000160	Narrow mouth	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0011337	HP:0000160	Narrow mouth	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040283 - Occasional		6
HP:0011337	HP:0000160	Narrow mouth	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011337	HP:0000154	Wide mouth	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0011337	HP:0000160	Narrow mouth	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0011337	HP:0000160	Narrow mouth	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0011337	HP:0000160	Narrow mouth	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0011337	HP:0000160	Narrow mouth	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0011337	HP:0000160	Narrow mouth	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0011337	HP:0000160	Narrow mouth	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0011337	HP:0000160	Narrow mouth	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011337	HP:0000160	Narrow mouth	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011337	HP:0000160	Narrow mouth	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0011337	HP:0000160	Narrow mouth	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011337	HP:0000160	Narrow mouth	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0011337	HP:0000160	Narrow mouth	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011337	HP:0000160	Narrow mouth	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011337	HP:0000160	Narrow mouth	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040283 - Occasional		24
HP:0011337	HP:0000160	Narrow mouth	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0011337	HP:0000160	Narrow mouth	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011337	HP:0000160	Narrow mouth	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011337	HP:0000154	Wide mouth	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0011337	HP:0000154	Wide mouth	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0011337	HP:0000154	Wide mouth	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0011337	HP:0000160	Narrow mouth	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0011337	HP:0000160	Narrow mouth	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0011337	HP:0000154	Wide mouth	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011337	HP:0000154	Wide mouth	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0011337	HP:0000160	Narrow mouth	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0011337	HP:0000154	Wide mouth	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0011337	HP:0000160	Narrow mouth	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011337	HP:0000160	Narrow mouth	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011337	HP:0000154	Wide mouth	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0011337	HP:0000154	Wide mouth	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011337	HP:0000154	Wide mouth	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional		144
HP:0011337	HP:0000154	Wide mouth	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011337	HP:0000160	Narrow mouth	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0011337	HP:0000160	Narrow mouth	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0011337	HP:0000154	Wide mouth	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0011337	HP:0000160	Narrow mouth	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0011337	HP:0000160	Narrow mouth	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0011337	HP:0000160	Narrow mouth	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0011337	HP:0000154	Wide mouth	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0011337	HP:0000160	Narrow mouth	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011337	HP:0000154	Wide mouth	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent		18
HP:0011337	HP:0000154	Wide mouth	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0011337	HP:0000154	Wide mouth	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011337	HP:0000160	Narrow mouth	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011337	HP:0000160	Narrow mouth	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0011337	HP:0000154	Wide mouth	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0011337	HP:0000160	Narrow mouth	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0011337	HP:0000160	Narrow mouth	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0011337	HP:0000160	Narrow mouth	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0011337	HP:0000160	Narrow mouth	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent		1361
HP:0011337	HP:0000160	Narrow mouth	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0011337	HP:0000160	Narrow mouth	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0011337	HP:0000160	Narrow mouth	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011337	HP:0000160	Narrow mouth	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0011337	HP:0000154	Wide mouth	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0011337	HP:0000160	Narrow mouth	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent		493
HP:0011337	HP:0000160	Narrow mouth	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0011337	HP:0000160	Narrow mouth	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0011337	HP:0000160	Narrow mouth	1	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.		263
HP:0011337	HP:0000160	Narrow mouth	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0011337	HP:0000154	Wide mouth	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0011337	HP:0000154	Wide mouth	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.		33
HP:0011337	HP:0000154	Wide mouth	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0011337	HP:0000160	Narrow mouth	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0011337	HP:0000160	Narrow mouth	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0011337	HP:0000160	Narrow mouth	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0011337	HP:0000154	Wide mouth	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0011337	HP:0000160	Narrow mouth	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0011337	HP:0000160	Narrow mouth	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0011337	HP:0000160	Narrow mouth	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0011337	HP:0000160	Narrow mouth	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011337	HP:0000154	Wide mouth	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011337	HP:0000154	Wide mouth	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011337	HP:0000154	Wide mouth	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011337	HP:0000160	Narrow mouth	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0011337	HP:0000154	Wide mouth	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0011337	HP:0000154	Wide mouth	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011337	HP:0000154	Wide mouth	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011337	HP:0000160	Narrow mouth	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0011337	HP:0000160	Narrow mouth	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0011337	HP:0000154	Wide mouth	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011337	HP:0000154	Wide mouth	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011337	HP:0000154	Wide mouth	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011337	HP:0000154	Wide mouth	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011337	HP:0000160	Narrow mouth	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011337	HP:0000154	Wide mouth	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011337	HP:0000154	Wide mouth	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011337	HP:0000154	Wide mouth	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011337	HP:0000154	Wide mouth	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040283 - Occasional		2
HP:0011337	HP:0000160	Narrow mouth	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011337	HP:0000154	Wide mouth	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011337	HP:0000160	Narrow mouth	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0011337	HP:0000160	Narrow mouth	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0011337	HP:0000154	Wide mouth	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011337	HP:0000154	Wide mouth	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011337	HP:0000160	Narrow mouth	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0011337	HP:0000160	Narrow mouth	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0011337	HP:0000160	Narrow mouth	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0011337	HP:0000160	Narrow mouth	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0011337	HP:0000160	Narrow mouth	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0011337	HP:0000154	Wide mouth	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0011337	HP:0000160	Narrow mouth	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011337	HP:0000160	Narrow mouth	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0011337	HP:0000160	Narrow mouth	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0011337	HP:0000154	Wide mouth	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional		115
HP:0011337	HP:0000154	Wide mouth	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0011337	HP:0000160	Narrow mouth	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011337	HP:0000154	Wide mouth	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0011337	HP:0000154	Wide mouth	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0011337	HP:0000160	Narrow mouth	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0011337	HP:0000160	Narrow mouth	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0011337	HP:0000160	Narrow mouth	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011337	HP:0000154	Wide mouth	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011337	HP:0000160	Narrow mouth	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011337	HP:0000154	Wide mouth	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011337	HP:0000154	Wide mouth	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011337	HP:0000160	Narrow mouth	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0011337	HP:0000154	Wide mouth	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0011337	HP:0000154	Wide mouth	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0011337	HP:0000154	Wide mouth	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0011337	HP:0000154	Wide mouth	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011337	HP:0000154	Wide mouth	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011337	HP:0000154	Wide mouth	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011337	HP:0000154	Wide mouth	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011337	HP:0000154	Wide mouth	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0011337	HP:0000154	Wide mouth	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011337	HP:0000154	Wide mouth	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0011337	HP:0000154	Wide mouth	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0011337	HP:0000160	Narrow mouth	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011337	HP:0000154	Wide mouth	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011337	HP:0000154	Wide mouth	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011337	HP:0000154	Wide mouth	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011337	HP:0000154	Wide mouth	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent		16
HP:0011337	HP:0000154	Wide mouth	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0011337	HP:0000160	Narrow mouth	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0011337	HP:0000160	Narrow mouth	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0011337	HP:0000154	Wide mouth	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0011337	HP:0000154	Wide mouth	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0011337	HP:0000160	Narrow mouth	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011337	HP:0000160	Narrow mouth	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0011337	HP:0000160	Narrow mouth	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent		12
HP:0011337	HP:0000160	Narrow mouth	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011337	HP:0000160	Narrow mouth	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011337	HP:0000160	Narrow mouth	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0011337	HP:0000160	Narrow mouth	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011337	HP:0000154	Wide mouth	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3	.		134
HP:0011337	HP:0000154	Wide mouth	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0011337	HP:0000160	Narrow mouth	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011337	HP:0000154	Wide mouth	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011337	HP:0000160	Narrow mouth	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0011337	HP:0000160	Narrow mouth	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0011337	HP:0000154	Wide mouth	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0011337	HP:0000160	Narrow mouth	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0011337	HP:0000160	Narrow mouth	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011337	HP:0000160	Narrow mouth	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.		950
HP:0011337	HP:0000154	Wide mouth	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0011337	HP:0000160	Narrow mouth	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0011337	HP:0000154	Wide mouth	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011337	HP:0000160	Narrow mouth	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011337	HP:0000154	Wide mouth	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011337	HP:0000154	Wide mouth	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent		74
HP:0011337	HP:0000154	Wide mouth	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.		74
HP:0011337	HP:0000160	Narrow mouth	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011337	HP:0000160	Narrow mouth	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011337	HP:0000154	Wide mouth	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011337	HP:0000154	Wide mouth	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0011337	HP:0000154	Wide mouth	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0011337	HP:0000154	Wide mouth	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011337	HP:0000160	Narrow mouth	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0011337	HP:0000160	Narrow mouth	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011337	HP:0000160	Narrow mouth	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011337	HP:0000154	Wide mouth	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0011337	HP:0000154	Wide mouth	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0011337	HP:0000160	Narrow mouth	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011337	HP:0000160	Narrow mouth	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0011337	HP:0000160	Narrow mouth	1	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		66
HP:0011337	HP:0000160	Narrow mouth	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0011337	HP:0000160	Narrow mouth	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0011337	HP:0000160	Narrow mouth	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0011337	HP:0000160	Narrow mouth	1	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		166
HP:0011337	HP:0000160	Narrow mouth	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0011337	HP:0000160	Narrow mouth	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0011337	HP:0000154	Wide mouth	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0011337	HP:0000160	Narrow mouth	1	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		48
HP:0011337	HP:0000160	Narrow mouth	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0011337	HP:0000154	Wide mouth	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0011337	HP:0000154	Wide mouth	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0011337	HP:0000160	Narrow mouth	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0011337	HP:0000154	Wide mouth	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0011337	HP:0000160	Narrow mouth	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0011337	HP:0000160	Narrow mouth	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0011337	HP:0000160	Narrow mouth	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0011337	HP:0000160	Narrow mouth	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0011337	HP:0000154	Wide mouth	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011337	HP:0000154	Wide mouth	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0011337	HP:0000160	Narrow mouth	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011337	HP:0000154	Wide mouth	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011337	HP:0000160	Narrow mouth	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0011337	HP:0000154	Wide mouth	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011337	HP:0000154	Wide mouth	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0011337	HP:0000154	Wide mouth	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0011337	HP:0000154	Wide mouth	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent		2
HP:0011337	HP:0000154	Wide mouth	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0011337	HP:0000154	Wide mouth	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0011337	HP:0000160	Narrow mouth	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0011337	HP:0000160	Narrow mouth	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0011337	HP:0000160	Narrow mouth	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0011337	HP:0000160	Narrow mouth	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0011337	HP:0000160	Narrow mouth	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0011337	HP:0000160	Narrow mouth	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0011337	HP:0000160	Narrow mouth	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0011337	HP:0000160	Narrow mouth	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0011337	HP:0000154	Wide mouth	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011337	HP:0000154	Wide mouth	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0011337	HP:0000154	Wide mouth	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0011337	HP:0000160	Narrow mouth	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent		231
HP:0011337	HP:0000160	Narrow mouth	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent		59
HP:0011337	HP:0000160	Narrow mouth	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011337	HP:0000160	Narrow mouth	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011337	HP:0000154	Wide mouth	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011337	HP:0000160	Narrow mouth	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0011337	HP:0000160	Narrow mouth	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0011337	HP:0000160	Narrow mouth	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0011337	HP:0000160	Narrow mouth	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0011337	HP:0000154	Wide mouth	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011337	HP:0000160	Narrow mouth	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011337	HP:0000154	Wide mouth	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0011337	HP:0000154	Wide mouth	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0011337	HP:0000154	Wide mouth	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011337	HP:0000160	Narrow mouth	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011337	HP:0000154	Wide mouth	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011337	HP:0000160	Narrow mouth	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0011337	HP:0000154	Wide mouth	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent		162
HP:0011337	HP:0000160	Narrow mouth	1	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		12
HP:0011337	HP:0000160	Narrow mouth	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0011337	HP:0000160	Narrow mouth	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0011337	HP:0000154	Wide mouth	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0011337	HP:0000160	Narrow mouth	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0011337	HP:0000154	Wide mouth	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0011337	HP:0000160	Narrow mouth	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0011337	HP:0000160	Narrow mouth	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0011337	HP:0000154	Wide mouth	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0011337	HP:0000154	Wide mouth	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0011337	HP:0000160	Narrow mouth	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0011337	HP:0000154	Wide mouth	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0011337	HP:0000160	Narrow mouth	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0011337	HP:0000160	Narrow mouth	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0011337	HP:0000160	Narrow mouth	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011337	HP:0000160	Narrow mouth	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0011337	HP:0000160	Narrow mouth	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0011337	HP:0000154	Wide mouth	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0011337	HP:0000160	Narrow mouth	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0011337	HP:0000160	Narrow mouth	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011337	HP:0000160	Narrow mouth	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0011337	HP:0000160	Narrow mouth	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011337	HP:0000160	Narrow mouth	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0011337	HP:0000160	Narrow mouth	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011337	HP:0000154	Wide mouth	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011337	HP:0000160	Narrow mouth	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0011337	HP:0000160	Narrow mouth	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0011337	HP:0000154	Wide mouth	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional		54
HP:0011337	HP:0000160	Narrow mouth	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011337	HP:0000154	Wide mouth	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent		6
HP:0011337	HP:0000160	Narrow mouth	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011337	HP:0000160	Narrow mouth	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0011337	HP:0000154	Wide mouth	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011337	HP:0000160	Narrow mouth	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011337	HP:0000154	Wide mouth	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011337	HP:0000154	Wide mouth	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional		150
HP:0011337	HP:0000154	Wide mouth	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011337	HP:0000160	Narrow mouth	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0011337	HP:0000160	Narrow mouth	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent		445
HP:0011337	HP:0000160	Narrow mouth	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0011337	HP:0000154	Wide mouth	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent		69
HP:0011337	HP:0000160	Narrow mouth	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011337	HP:0000154	Wide mouth	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011337	HP:0000160	Narrow mouth	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011337	HP:0000154	Wide mouth	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011337	HP:0000154	Wide mouth	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent		120
HP:0011337	HP:0000154	Wide mouth	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011337	HP:0000160	Narrow mouth	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011337	HP:0000160	Narrow mouth	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0011337	HP:0000154	Wide mouth	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0011337	HP:0000160	Narrow mouth	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011337	HP:0000160	Narrow mouth	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0011337	HP:0000160	Narrow mouth	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011337	HP:0000160	Narrow mouth	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011337	HP:0000160	Narrow mouth	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0011337	HP:0000160	Narrow mouth	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	.		113
HP:0011337	HP:0000160	Narrow mouth	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0011337	HP:0000160	Narrow mouth	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional		1200
HP:0011337	HP:0000154	Wide mouth	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0011337	HP:0000160	Narrow mouth	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0011337	HP:0000160	Narrow mouth	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0011337	HP:0000160	Narrow mouth	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0011337	HP:0000160	Narrow mouth	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011337	HP:0000160	Narrow mouth	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011337	HP:0000154	Wide mouth	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0011337	HP:0000160	Narrow mouth	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011337	HP:0000160	Narrow mouth	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0011337	HP:0000154	Wide mouth	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0011337	HP:0000154	Wide mouth	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0011337	HP:0000160	Narrow mouth	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011337	HP:0000160	Narrow mouth	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0011337	HP:0000160	Narrow mouth	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0011337	HP:0000160	Narrow mouth	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0011337	HP:0000154	Wide mouth	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0011337	HP:0000160	Narrow mouth	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011337	HP:0000154	Wide mouth	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0011337	HP:0000154	Wide mouth	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0011337	HP:0000154	Wide mouth	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0011337	HP:0000154	Wide mouth	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0011337	HP:0000154	Wide mouth	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0011337	HP:0000160	Narrow mouth	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011337	HP:0000154	Wide mouth	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent		134
HP:0011337	HP:0000160	Narrow mouth	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0011337	HP:0000160	Narrow mouth	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011337	HP:0000160	Narrow mouth	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0011337	HP:0000160	Narrow mouth	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011337	HP:0000154	Wide mouth	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011337	HP:0000154	Wide mouth	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011337	HP:0000160	Narrow mouth	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011337	HP:0000154	Wide mouth	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0011337	HP:0000154	Wide mouth	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0011337	HP:0000160	Narrow mouth	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011337	HP:0000160	Narrow mouth	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0011337	HP:0000154	Wide mouth	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011337	HP:0000154	Wide mouth	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011337	HP:0000154	Wide mouth	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011337	HP:0000154	Wide mouth	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		617
HP:0011337	HP:0000154	Wide mouth	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0011337	HP:0000154	Wide mouth	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		87
HP:0011337	HP:0000154	Wide mouth	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011337	HP:0000154	Wide mouth	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		1
HP:0011337	HP:0000154	Wide mouth	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011337	HP:0000154	Wide mouth	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		47
HP:0011337	HP:0000154	Wide mouth	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011337	HP:0000160	Narrow mouth	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0011337	HP:0000154	Wide mouth	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0011337	HP:0000154	Wide mouth	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011337	HP:0000154	Wide mouth	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		37
HP:0011337	HP:0000154	Wide mouth	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0011337	HP:0000160	Narrow mouth	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.		12
HP:0011337	HP:0000154	Wide mouth	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011337	HP:0000154	Wide mouth	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		14
HP:0011337	HP:0000154	Wide mouth	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0011337	HP:0000160	Narrow mouth	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011337	HP:0000160	Narrow mouth	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011337	HP:0000160	Narrow mouth	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0011337	HP:0000160	Narrow mouth	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0011337	HP:0000160	Narrow mouth	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0011337	HP:0000160	Narrow mouth	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0011337	HP:0000154	Wide mouth	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011337	HP:0000154	Wide mouth	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011337	HP:0000154	Wide mouth	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0011337	HP:0000154	Wide mouth	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0011337	HP:0000154	Wide mouth	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0011337	HP:0000154	Wide mouth	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0011337	HP:0000154	Wide mouth	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0011337	HP:0000154	Wide mouth	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0011337	HP:0000154	Wide mouth	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent		9
HP:0011337	HP:0000154	Wide mouth	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0011337	HP:0000154	Wide mouth	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0011337	HP:0000154	Wide mouth	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0011337	HP:0000160	Narrow mouth	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011337	HP:0000154	Wide mouth	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0011337	HP:0000160	Narrow mouth	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0011337	HP:0000154	Wide mouth	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0011337	HP:0000160	Narrow mouth	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011337	HP:0000154	Wide mouth	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0011337	HP:0000154	Wide mouth	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011337	HP:0000160	Narrow mouth	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011337	HP:0000154	Wide mouth	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000160	Narrow mouth	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0011337	HP:0000160	Narrow mouth	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0011337	HP:0000154	Wide mouth	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011337	HP:0000154	Wide mouth	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011337	HP:0000154	Wide mouth	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0011337	HP:0000160	Narrow mouth	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0011337	HP:0000154	Wide mouth	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0011337	HP:0000160	Narrow mouth	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0011337	HP:0000154	Wide mouth	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011337	HP:0000160	Narrow mouth	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0011337	HP:0000154	Wide mouth	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent		6
HP:0011337	HP:0000154	Wide mouth	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011337	HP:0000154	Wide mouth	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.		166
HP:0011337	HP:0000154	Wide mouth	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0011337	HP:0000160	Narrow mouth	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0011337	HP:0000160	Narrow mouth	1	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		37
HP:0011337	HP:0000160	Narrow mouth	1	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	HP:0040284 - Very rare		43
HP:0011337	HP:0000160	Narrow mouth	1	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		43
HP:0011337	HP:0000160	Narrow mouth	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011337	HP:0000160	Narrow mouth	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0011337	HP:0000160	Narrow mouth	1	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		54
HP:0011337	HP:0000154	Wide mouth	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011337	HP:0000154	Wide mouth	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0011337	HP:0000160	Narrow mouth	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0011337	HP:0000160	Narrow mouth	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011337	HP:0000160	Narrow mouth	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0011337	HP:0000154	Wide mouth	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0011337	HP:0000160	Narrow mouth	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0011337	HP:0000160	Narrow mouth	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0011337	HP:0000160	Narrow mouth	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0011337	HP:0000154	Wide mouth	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0011337	HP:0000154	Wide mouth	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0011337	HP:0000154	Wide mouth	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0011337	HP:0000154	Wide mouth	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.		7
HP:0011337	HP:0000160	Narrow mouth	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0011337	HP:0000154	Wide mouth	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011337	HP:0000154	Wide mouth	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040281 - Very frequent		7
HP:0011337	HP:0000154	Wide mouth	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011337	HP:0000154	Wide mouth	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0011337	HP:0000154	Wide mouth	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		278
HP:0011337	HP:0000154	Wide mouth	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0011337	HP:0000154	Wide mouth	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0011337	HP:0000160	Narrow mouth	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011337	HP:0000154	Wide mouth	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0011337	HP:0000160	Narrow mouth	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011337	HP:0000160	Narrow mouth	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011337	HP:0000154	Wide mouth	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011337	HP:0000154	Wide mouth	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0011337	HP:0000154	Wide mouth	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0011337	HP:0000154	Wide mouth	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0011337	HP:0000154	Wide mouth	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011337	HP:0000160	Narrow mouth	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent		12
HP:0011337	HP:0000160	Narrow mouth	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent		14
HP:0011337	HP:0000160	Narrow mouth	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011337	HP:0000154	Wide mouth	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011337	HP:0000160	Narrow mouth	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011337	HP:0000160	Narrow mouth	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0011337	HP:0000160	Narrow mouth	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0011337	HP:0000160	Narrow mouth	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0011337	HP:0000160	Narrow mouth	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011337	HP:0000160	Narrow mouth	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011337	HP:0000154	Wide mouth	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0011337	HP:0000154	Wide mouth	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0011337	HP:0000154	Wide mouth	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0011337	HP:0000154	Wide mouth	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011337	HP:0000154	Wide mouth	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional		5