Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of mouth size (HP:0011337)

..Starting node
..Narrow mouth (HP:0000160)

Term ID:

160

Name:

Narrow mouth

Synonym:

Microstomia; Narrow mouth; Small mouth; Small oral aperture

Definition:

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

Comments:

Reference:

HP:0000160

Genes and Diseases:

Child Nodes:

Sister Nodes:

Wide mouth (HP:0000154)

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:0000160	HP:0000160	Narrow mouth	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0000160	HP:0000160	Narrow mouth	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0000160	HP:0000160	Narrow mouth	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		19
HP:0000160	HP:0000160	Narrow mouth	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0000160	HP:0000160	Narrow mouth	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000160	HP:0000160	Narrow mouth	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0000160	HP:0000160	Narrow mouth	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0000160	HP:0000160	Narrow mouth	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000160	HP:0000160	Narrow mouth	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0000160	HP:0000160	Narrow mouth	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0000160	HP:0000160	Narrow mouth	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0000160	HP:0000160	Narrow mouth	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0000160	HP:0000160	Narrow mouth	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:0000160	HP:0000160	Narrow mouth	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0000160	HP:0000160	Narrow mouth	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000160	HP:0000160	Narrow mouth	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0000160	HP:0000160	Narrow mouth	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0000160	HP:0000160	Narrow mouth	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0000160	HP:0000160	Narrow mouth	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000160	HP:0000160	Narrow mouth	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent		13
HP:0000160	HP:0000160	Narrow mouth	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0000160	HP:0000160	Narrow mouth	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0000160	HP:0000160	Narrow mouth	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000160	HP:0000160	Narrow mouth	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0000160	HP:0000160	Narrow mouth	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000160	HP:0000160	Narrow mouth	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000160	HP:0000160	Narrow mouth	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional		34
HP:0000160	HP:0000160	Narrow mouth	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare		34
HP:0000160	HP:0000160	Narrow mouth	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0000160	HP:0000160	Narrow mouth	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0000160	HP:0000160	Narrow mouth	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000160	HP:0000160	Narrow mouth	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000160	HP:0000160	Narrow mouth	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0000160	HP:0000160	Narrow mouth	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		11
HP:0000160	HP:0000160	Narrow mouth	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000160	HP:0000160	Narrow mouth	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000160	HP:0000160	Narrow mouth	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000160	HP:0000160	Narrow mouth	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0000160	HP:0000160	Narrow mouth	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000160	HP:0000160	Narrow mouth	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0000160	HP:0000160	Narrow mouth	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000160	HP:0000160	Narrow mouth	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000160	HP:0000160	Narrow mouth	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000160	HP:0000160	Narrow mouth	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0000160	HP:0000160	Narrow mouth	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	HP:0003593 - Infantile onset	27
HP:0000160	HP:0000160	Narrow mouth	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000160	HP:0000160	Narrow mouth	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:0000160	HP:0000160	Narrow mouth	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0000160	HP:0000160	Narrow mouth	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040283 - Occasional		6
HP:0000160	HP:0000160	Narrow mouth	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000160	HP:0000160	Narrow mouth	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0000160	HP:0000160	Narrow mouth	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0000160	HP:0000160	Narrow mouth	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000160	HP:0000160	Narrow mouth	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0000160	HP:0000160	Narrow mouth	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0000160	HP:0000160	Narrow mouth	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0000160	HP:0000160	Narrow mouth	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0000160	HP:0000160	Narrow mouth	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0000160	HP:0000160	Narrow mouth	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0000160	HP:0000160	Narrow mouth	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0000160	HP:0000160	Narrow mouth	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0000160	HP:0000160	Narrow mouth	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0000160	HP:0000160	Narrow mouth	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000160	HP:0000160	Narrow mouth	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040283 - Occasional		24
HP:0000160	HP:0000160	Narrow mouth	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0000160	HP:0000160	Narrow mouth	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0000160	HP:0000160	Narrow mouth	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000160	HP:0000160	Narrow mouth	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0000160	HP:0000160	Narrow mouth	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0000160	HP:0000160	Narrow mouth	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000160	HP:0000160	Narrow mouth	0	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:0000160	HP:0000160	Narrow mouth	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000160	HP:0000160	Narrow mouth	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0000160	HP:0000160	Narrow mouth	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0000160	HP:0000160	Narrow mouth	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000160	HP:0000160	Narrow mouth	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0000160	HP:0000160	Narrow mouth	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000160	HP:0000160	Narrow mouth	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0000160	HP:0000160	Narrow mouth	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000160	HP:0000160	Narrow mouth	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000160	HP:0000160	Narrow mouth	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0000160	HP:0000160	Narrow mouth	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0000160	HP:0000160	Narrow mouth	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000160	HP:0000160	Narrow mouth	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0000160	HP:0000160	Narrow mouth	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent		1361
HP:0000160	HP:0000160	Narrow mouth	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0000160	HP:0000160	Narrow mouth	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000160	HP:0000160	Narrow mouth	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000160	HP:0000160	Narrow mouth	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0000160	HP:0000160	Narrow mouth	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent		493
HP:0000160	HP:0000160	Narrow mouth	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0000160	HP:0000160	Narrow mouth	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0000160	HP:0000160	Narrow mouth	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.		263
HP:0000160	HP:0000160	Narrow mouth	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0000160	HP:0000160	Narrow mouth	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000160	HP:0000160	Narrow mouth	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000160	HP:0000160	Narrow mouth	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0000160	HP:0000160	Narrow mouth	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000160	HP:0000160	Narrow mouth	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000160	HP:0000160	Narrow mouth	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000160	HP:0000160	Narrow mouth	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000160	HP:0000160	Narrow mouth	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0000160	HP:0000160	Narrow mouth	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0000160	HP:0000160	Narrow mouth	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000160	HP:0000160	Narrow mouth	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000160	HP:0000160	Narrow mouth	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0000160	HP:0000160	Narrow mouth	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0000160	HP:0000160	Narrow mouth	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0000160	HP:0000160	Narrow mouth	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0000160	HP:0000160	Narrow mouth	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0000160	HP:0000160	Narrow mouth	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0000160	HP:0000160	Narrow mouth	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0000160	HP:0000160	Narrow mouth	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000160	HP:0000160	Narrow mouth	0	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:0000160	HP:0000160	Narrow mouth	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000160	HP:0000160	Narrow mouth	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000160	HP:0000160	Narrow mouth	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0000160	HP:0000160	Narrow mouth	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0000160	HP:0000160	Narrow mouth	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000160	HP:0000160	Narrow mouth	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000160	HP:0000160	Narrow mouth	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0000160	HP:0000160	Narrow mouth	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000160	HP:0000160	Narrow mouth	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0000160	HP:0000160	Narrow mouth	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000160	HP:0000160	Narrow mouth	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0000160	HP:0000160	Narrow mouth	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0000160	HP:0000160	Narrow mouth	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0000160	HP:0000160	Narrow mouth	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent		12
HP:0000160	HP:0000160	Narrow mouth	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000160	HP:0000160	Narrow mouth	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000160	HP:0000160	Narrow mouth	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000160	HP:0000160	Narrow mouth	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000160	HP:0000160	Narrow mouth	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000160	HP:0000160	Narrow mouth	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000160	HP:0000160	Narrow mouth	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0000160	HP:0000160	Narrow mouth	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0000160	HP:0000160	Narrow mouth	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0000160	HP:0000160	Narrow mouth	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.		950
HP:0000160	HP:0000160	Narrow mouth	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0000160	HP:0000160	Narrow mouth	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000160	HP:0000160	Narrow mouth	0	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:0000160	HP:0000160	Narrow mouth	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000160	HP:0000160	Narrow mouth	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0000160	HP:0000160	Narrow mouth	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0000160	HP:0000160	Narrow mouth	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000160	HP:0000160	Narrow mouth	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000160	HP:0000160	Narrow mouth	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0000160	HP:0000160	Narrow mouth	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		66
HP:0000160	HP:0000160	Narrow mouth	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0000160	HP:0000160	Narrow mouth	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0000160	HP:0000160	Narrow mouth	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0000160	HP:0000160	Narrow mouth	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		166
HP:0000160	HP:0000160	Narrow mouth	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0000160	HP:0000160	Narrow mouth	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000160	HP:0000160	Narrow mouth	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		48
HP:0000160	HP:0000160	Narrow mouth	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0000160	HP:0000160	Narrow mouth	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000160	HP:0000160	Narrow mouth	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0000160	HP:0000160	Narrow mouth	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0000160	HP:0000160	Narrow mouth	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0000160	HP:0000160	Narrow mouth	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000160	HP:0000160	Narrow mouth	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000160	HP:0000160	Narrow mouth	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0000160	HP:0000160	Narrow mouth	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000160	HP:0000160	Narrow mouth	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000160	HP:0000160	Narrow mouth	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000160	HP:0000160	Narrow mouth	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000160	HP:0000160	Narrow mouth	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000160	HP:0000160	Narrow mouth	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000160	HP:0000160	Narrow mouth	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000160	HP:0000160	Narrow mouth	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0000160	HP:0000160	Narrow mouth	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent		231
HP:0000160	HP:0000160	Narrow mouth	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent		59
HP:0000160	HP:0000160	Narrow mouth	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000160	HP:0000160	Narrow mouth	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000160	HP:0000160	Narrow mouth	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000160	HP:0000160	Narrow mouth	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0000160	HP:0000160	Narrow mouth	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0000160	HP:0000160	Narrow mouth	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000160	HP:0000160	Narrow mouth	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000160	HP:0000160	Narrow mouth	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000160	HP:0000160	Narrow mouth	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0000160	HP:0000160	Narrow mouth	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		12
HP:0000160	HP:0000160	Narrow mouth	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000160	HP:0000160	Narrow mouth	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000160	HP:0000160	Narrow mouth	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000160	HP:0000160	Narrow mouth	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0000160	HP:0000160	Narrow mouth	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0000160	HP:0000160	Narrow mouth	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0000160	HP:0000160	Narrow mouth	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000160	HP:0000160	Narrow mouth	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0000160	HP:0000160	Narrow mouth	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000160	HP:0000160	Narrow mouth	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0000160	HP:0000160	Narrow mouth	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000160	HP:0000160	Narrow mouth	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000160	HP:0000160	Narrow mouth	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0000160	HP:0000160	Narrow mouth	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000160	HP:0000160	Narrow mouth	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0000160	HP:0000160	Narrow mouth	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000160	HP:0000160	Narrow mouth	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0000160	HP:0000160	Narrow mouth	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0000160	HP:0000160	Narrow mouth	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0000160	HP:0000160	Narrow mouth	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0000160	HP:0000160	Narrow mouth	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0000160	HP:0000160	Narrow mouth	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000160	HP:0000160	Narrow mouth	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent		445
HP:0000160	HP:0000160	Narrow mouth	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0000160	HP:0000160	Narrow mouth	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0000160	HP:0000160	Narrow mouth	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent		69
HP:0000160	HP:0000160	Narrow mouth	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0000160	HP:0000160	Narrow mouth	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000160	HP:0000160	Narrow mouth	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000160	HP:0000160	Narrow mouth	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000160	HP:0000160	Narrow mouth	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000160	HP:0000160	Narrow mouth	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000160	HP:0000160	Narrow mouth	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	.		113
HP:0000160	HP:0000160	Narrow mouth	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000160	HP:0000160	Narrow mouth	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional		1200
HP:0000160	HP:0000160	Narrow mouth	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0000160	HP:0000160	Narrow mouth	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0000160	HP:0000160	Narrow mouth	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000160	HP:0000160	Narrow mouth	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000160	HP:0000160	Narrow mouth	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000160	HP:0000160	Narrow mouth	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000160	HP:0000160	Narrow mouth	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000160	HP:0000160	Narrow mouth	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000160	HP:0000160	Narrow mouth	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000160	HP:0000160	Narrow mouth	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000160	HP:0000160	Narrow mouth	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000160	HP:0000160	Narrow mouth	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0000160	HP:0000160	Narrow mouth	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000160	HP:0000160	Narrow mouth	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0000160	HP:0000160	Narrow mouth	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000160	HP:0000160	Narrow mouth	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000160	HP:0000160	Narrow mouth	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000160	HP:0000160	Narrow mouth	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0000160	HP:0000160	Narrow mouth	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0000160	HP:0000160	Narrow mouth	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.		12
HP:0000160	HP:0000160	Narrow mouth	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000160	HP:0000160	Narrow mouth	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000160	HP:0000160	Narrow mouth	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0000160	HP:0000160	Narrow mouth	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0000160	HP:0000160	Narrow mouth	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0000160	HP:0000160	Narrow mouth	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0000160	HP:0000160	Narrow mouth	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0000160	HP:0000160	Narrow mouth	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000160	HP:0000160	Narrow mouth	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000160	HP:0000160	Narrow mouth	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0000160	HP:0000160	Narrow mouth	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000160	HP:0000160	Narrow mouth	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0000160	HP:0000160	Narrow mouth	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0000160	HP:0000160	Narrow mouth	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0000160	HP:0000160	Narrow mouth	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0000160	HP:0000160	Narrow mouth	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0000160	HP:0000160	Narrow mouth	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0000160	HP:0000160	Narrow mouth	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		37
HP:0000160	HP:0000160	Narrow mouth	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	HP:0040284 - Very rare		43
HP:0000160	HP:0000160	Narrow mouth	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		43
HP:0000160	HP:0000160	Narrow mouth	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0000160	HP:0000160	Narrow mouth	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0000160	HP:0000160	Narrow mouth	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040283 - Occasional		54
HP:0000160	HP:0000160	Narrow mouth	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0000160	HP:0000160	Narrow mouth	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000160	HP:0000160	Narrow mouth	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0000160	HP:0000160	Narrow mouth	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0000160	HP:0000160	Narrow mouth	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0000160	HP:0000160	Narrow mouth	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000160	HP:0000160	Narrow mouth	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0000160	HP:0000160	Narrow mouth	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000160	HP:0000160	Narrow mouth	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000160	HP:0000160	Narrow mouth	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000160	HP:0000160	Narrow mouth	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent		12
HP:0000160	HP:0000160	Narrow mouth	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent		14
HP:0000160	HP:0000160	Narrow mouth	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0000160	HP:0000160	Narrow mouth	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000160	HP:0000160	Narrow mouth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0000160	HP:0000160	Narrow mouth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0000160	HP:0000160	Narrow mouth	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0000160	HP:0000160	Narrow mouth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0000160	HP:0000160	Narrow mouth	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83

Genes (221) :ADAMTS3 AKT1 AKT3 ALDH18A1 AMMECR1 APC ARVCF ASXL1 ATAD3A ATP6V0A2 AUTS2 B3GAT3 B4GALT7 BBS7 BCL11B BCR BIN1 BMP2 BMPR1A BPNT2 BPTF BRPF1 CA2 CACNA1C CAMTA1 CANT1 CASZ1 CAV1 CCBE1 CCND2 CDC45 CDC6 CDK13 CDT1 CENPT CEP57 CHD7 CHRNG CHST14 CHST3 CHSY1 CLCF1 CLCN3 COG1 COG7 COL11A1 COL11A2 COL2A1 COL3A1 COL7A1 COMT CREBBP CRKL CRLF1 CTCF DCHS1 DCPS DHCR24 DLK1 DONSON DSE ECEL1 EDN1 EIF4A3 EP300 EXTL3 FAM20C FAT4 FBN1 FBXO11 FGFR2 FLNA FREM2 GABRD GBA1 GJA1 GLB1 GMNN GNAI3 GNB2 GP1BB GRB10 GSC H3-3A HEATR3 HIRA HIVEP2 HSPG2 HUWE1 IARS2 IGF1R ITGA3 JMJD1C KARS1 KAT6A KCNAB2 KIF7 LEMD2 LGI3 LMNA LMX1B LTBP3 LUZP1 MADD MAF MAPK1 MAPK8IP3 MAPRE2 MCM5 MDM2 MECP2 MED12 MED12L MEG3 MMP1 MMP23B MTX2 MUSK MYBPC1 MYH3 MYL11 NALCN NEB NFIA NFIX NONO NOTCH2 ORC1 ORC4 ORC6 OSGEP OTX2 PAFAH1B1 PAX3 PCGF2 PDPN PHACTR1 PIEZO2 PIGA PIGF PIGN PIK3CA PIK3R2 PLCB4 POGZ POLD1 POLR1B POLR1C POLR1D POLR3A POR POU4F1 PPP1R15B PQBP1 PRDM16 PRKCZ PRRX1 PTCH1 PTEN RAB3GAP1 RECQL4 RERE RIPK4 RLIM RNF2 RPL10 RREB1 RSPO2 RTL1 RTTN RYR1 SATB2 SCARF2 SCN1A SCNM1 SCYL2 SEC24C SEMA3E SEPTIN9 SETBP1 SH2B1 SIN3A SKI SKIC3 SLC25A24 SMAD4 SMS SON SOX6 SOX9 SP7 SPEG SPEN STXBP1 SUPT16H SYNGAP1 TAF6 TBC1D20 TBX1 TBX4 TCOF1 TLK2 TNNI2 TNNT3 TP63 TPM2 TRIP4 TRMT10A TRMT5 TTN TUBB TWIST1 TXNL4A UBE3B UBE4B UFD1 WNT3 YWHAE ZBTB20 ZMIZ1 ZMPSTE24

Diseases (219) :ORPHA:2136 OMIM:615109 ORPHA:83473 OMIM:219150 OMIM:300990 ORPHA:261584 ORPHA:567 OMIM:605039 OMIM:618810 OMIM:219200 ORPHA:352490 OMIM:615834 OMIM:245600 ORPHA:75496 OMIM:130070 OMIM:615984 OMIM:618092 ORPHA:261330 ORPHA:169186 ORPHA:261295 ORPHA:79076 OMIM:614078 OMIM:617755 OMIM:617333 ORPHA:2785 OMIM:620029 OMIM:614756 ORPHA:314647 OMIM:251450 ORPHA:1606 OMIM:606721 OMIM:235510 ORPHA:2554 OMIM:617063 OMIM:617360 OMIM:613804 OMIM:618702 OMIM:614114 ORPHA:138 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:363417 ORPHA:1545 OMIM:619512 ORPHA:263508 ORPHA:79333 OMIM:608779 ORPHA:2021 OMIM:228520 OMIM:132450 ORPHA:286 ORPHA:89842 ORPHA:79408 OMIM:226600 OMIM:180849 OMIM:272430 ORPHA:363611 OMIM:615502 ORPHA:314679 OMIM:616459 ORPHA:35107 ORPHA:96334 ORPHA:96184 OMIM:251230 OMIM:615539 OMIM:615065 ORPHA:137888 OMIM:268305 ORPHA:508533 OMIM:259775 OMIM:616006 ORPHA:969 OMIM:102370 OMIM:618089 OMIM:123790 ORPHA:1555 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:617666 OMIM:608013 OMIM:257850 OMIM:230600 OMIM:602483 OMIM:619503 ORPHA:96182 OMIM:602471 OMIM:619720 OMIM:620072 OMIM:616977 OMIM:224410 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:309590 ORPHA:436174 OMIM:616007 OMIM:270450 OMIM:614748 OMIM:619147 OMIM:616268 OMIM:200990 OMIM:619322 OMIM:620007 ORPHA:740 ORPHA:1662 ORPHA:495818 OMIM:619004 ORPHA:1272 OMIM:601088 OMIM:618443 OMIM:616734 OMIM:617564 OMIM:618681 OMIM:300260 OMIM:300895 OMIM:618872 OMIM:619127 OMIM:208150 ORPHA:1146 OMIM:618524 OMIM:193700 OMIM:618436 ORPHA:2053 OMIM:619110 OMIM:256030 OMIM:613735 ORPHA:447980 ORPHA:420179 OMIM:614753 OMIM:300967 ORPHA:955 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 ORPHA:990 ORPHA:217385 ORPHA:1529 OMIM:618371 OMIM:618298 OMIM:248700 ORPHA:2461 OMIM:300868 OMIM:619356 ORPHA:280633 OMIM:615108 OMIM:614669 ORPHA:468678 OMIM:615381 ORPHA:861 OMIM:264090 ORPHA:3455 ORPHA:95699 OMIM:616817 ORPHA:391408 ORPHA:93946 OMIM:309500 OMIM:202650 ORPHA:77301 OMIM:158350 OMIM:600118 ORPHA:1225 OMIM:218600 ORPHA:1234 OMIM:300978 OMIM:619460 OMIM:300998 ORPHA:459070 ORPHA:3301 ORPHA:468631 OMIM:614833 ORPHA:324581 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:600920 OMIM:619317 OMIM:620107 OMIM:618766 OMIM:162100 ORPHA:2901 OMIM:616078 ORPHA:261222 ORPHA:94065 OMIM:613406 OMIM:222470 OMIM:612289 OMIM:139210 ORPHA:2588 ORPHA:3063 OMIM:617140 OMIM:618971 OMIM:114290 OMIM:613849 OMIM:615959 OMIM:619480 ORPHA:544254 OMIM:617126 OMIM:615663 ORPHA:261279 OMIM:154500 OMIM:618050 OMIM:601680 OMIM:618435 OMIM:129400 OMIM:108120 OMIM:616866 OMIM:616539 OMIM:156610 OMIM:617746 OMIM:608572 OMIM:244450 OMIM:259050 OMIM:618659 ORPHA:90154 OMIM:608612 OMIM:275210

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

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